All variants in the HBB gene

Information The variants shown are described using the NM_000518.4 transcript reference sequence.

20937 entries on 210 pages. Showing entries 1 - 100.
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Effect     

Exon     

AscendingDNA change (cDNA)     

Haplotype     

RNA change     

Protein     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Owner     
+?/. 2 c.112T>M Hb Rothschild r.(?) p.Trp38Arg - VUS g.5248010A>K g.5226780A>K - - HBB_000755 - data from Globin Gene Server (HbVar-303), OMIM:var0241, ExPASy_002925, PubMed: Danish, PubMed: Craik, PubMed: Gacon - rs33994623 Germline - - - 0 - HbVar - Belinda Giardine and Ross Hardison
+?/. - c.112T>M Hb C-Rothschild r.(?) p.(Trp38Arg) - VUS g.5248010A>K g.5226780A>K [19G>A;112T>M] - HBB_000755 - data from Globin Gene Server (HbVar-689), - - Germline - - - 0 - HbVar - Belinda Giardine and Ross Hardison
?/. - c.112T>M Hb Rothschild r.(?) p.(Trp38Arg) - VUS g.5248010A>K g.5226780A>K CD 37 TGG>AGG or CGG - HBB_000755 β-chain variant IthaNet-811, IthaNet-928 - - SUMMARY record - - - 0 - IthaNet - Petros Kountouris
+?/. 2 c.123G>Y Hb Austin r.(?) p.Arg41Ser - VUS g.5247999C>R g.5226769C>R - - HBB_000763 - data from Globin Gene Server (HbVar-311), OMIM:var0014, PubMed: Moo-Penn WF - rs33918778 Germline - - - 0 - HbVar - Belinda Giardine and Ross Hardison
?/. - c.123G>Y Hb Austin r.(?) p.(Arg41Ser) - VUS g.5247999C>R g.5226769C>R CD 40 AGG>AGC or AGT - HBB_000763 β-chain variant IthaNet-941 - - SUMMARY record - - - 0 - IthaNet - Petros Kountouris
+?/. 2 c.174C>R Hb G-Ferrara r.(?) p.Asn58Lys - VUS g.5247948G>Y g.5226718G>Y - - HBB_000796 - data from Globin Gene Server (HbVar-344), OMIM:var0082, ExPASy_002948, PubMed: Giardina B - rs35278874 Germline - - - 0 - HbVar - Belinda Giardine and Ross Hardison
?/. - c.174C>R Hb G-Ferrara r.(?) p.(Asn58Lys) - VUS g.5247948G>Y g.5226718G>Y CD 57 AAC>AAA or AAG - HBB_000796 β-chain variant IthaNet-993 - - SUMMARY record - - - 0 - IthaNet - Petros Kountouris
+?/. 2 c.180G>Y Hb J-Lome r.(?) p.Lys60Asn - VUS g.5247942C>R g.5226712C>R - - HBB_001307 - data from Globin Gene Server (HbVar-1185), OMIM:var0134, PubMed: Naritomi, PubMed: Sugihara, PubMed: Chen, PubMed: Oshima - rs34621955 Germline - - - 0 - HbVar - Belinda Giardine and Ross Hardison
?/. - c.180G>Y Hb J-Lome r.(?) p.(Lys60Asn) - VUS g.5247942C>R g.5226712C>R CD 59 AAG>AAC or AAT - HBB_001307 β-chain variant IthaNet-998 - - SUMMARY record - - - 0 - IthaNet - Petros Kountouris
+?/. 2 c.186G>Y Hb Hikari r.(?) p.Lys62Asn - VUS g.5247936C>R g.5226706C>R - - HBB_000805 - data from Globin Gene Server (HbVar-354), OMIM:var0106, ExPASy_002954, PubMed: Nakatsuji T - rs34446260 Germline - - - 0 - HbVar - Belinda Giardine and Ross Hardison
?/. - c.186G>Y Hb Hikari r.(?) p.(Lys62Asn) - VUS g.5247936C>R g.5226706C>R CD 61 AAG>AAC or AAT [Lys>Asn] - HBB_000805 β-chain variant IthaNet-1005 - - SUMMARY record - - - 0 - IthaNet - Petros Kountouris
+?/. 2 c.198G>Y Hb J-Sicilia r.(?) p.Lys66Asn - VUS g.5247924C>R g.5226694C>R - - HBB_000814 - data from Globin Gene Server (HbVar-363), OMIM:var0137, ExPASy_002959, PubMed: Ricco G - rs35747961 Germline - - - 0 - HbVar - Belinda Giardine and Ross Hardison
?/. - c.198G>Y Hb J-Sicilia r.(?) p.(Lys66Asn) - VUS g.5247924C>R g.5226694C>R CD 65 AAG>AAC or AAT - HBB_000814 β-chain variant IthaNet-1017 - - SUMMARY record - - - 0 - IthaNet - Petros Kountouris
+?/. 2 c.243C>R Hb G-Szuhu r.(?) p.Asn81Lys - VUS g.5247879G>Y g.5226649G>Y - - HBB_000853 - data from Globin Gene Server (HbVar-402), OMIM:var0087, ExPASy_002984, PubMed: Schilliro, PubMed: Kaufman, PubMed: Blackwell - rs35890380 Germline - - - 0 - HbVar - Belinda Giardine and Ross Hardison
?/. - c.243C>R Hb G-Szuhu r.(?) p.(Asn81Lys) - VUS g.5247879G>Y g.5226649G>Y CD 80 AAC>AAA or AAG (Hb Gifu) - HBB_000853 β-chain variant IthaNet-1068 - - SUMMARY record - - - 0 - IthaNet - Petros Kountouris
+?/. 2 c.249G>Y Hb Providence r.(?) p.Lys83Asn - VUS g.5247873C>R g.5226643C>R - - HBB_000856 - data from Globin Gene Server (HbVar-405), OMIM:var0227, ExPASy_012664, PubMed: Charache, PubMed: Bonaventura, PubMed: Moo-Penn - rs33991993 Germline - - - 0 - HbVar - Belinda Giardine and Ross Hardison
+?/. - c.249G>Y Hb S-Providence r.(?) p.(=) - VUS g.5247873C>R g.5226643C>R [20A>T;249G>Y] - HBB_000856 - data from Globin Gene Server (HbVar-686), OMIM:var0246, PubMed: Gale RE - - Germline - - - 0 - HbVar - Belinda Giardine and Ross Hardison
?/. - c.249G>Y Hb Providence;Hb S-Providence r.(?) p.(Lys83Asn) - VUS g.5247873C>R g.5226643C>R CD 82 AAG>AAT or AAC - HBB_000856 β-chain variant IthaNet-1076, IthaNet-818 - - SUMMARY record - - - 0 - IthaNet - Petros Kountouris
+?/. 2 c.273G>Y Hb Pierre-Benite r.(?) p.Glu91Asp - VUS g.5247849C>R g.5226619C>R - - HBB_000877 - data from Globin Gene Server (HbVar-426), OMIM:var0221, ExPASy_002997, PubMed: Baklouti F - rs35002698 Germline - - - 0 - HbVar - Belinda Giardine and Ross Hardison
?/. - c.273G>Y Hb Pierre-Bénite r.(?) p.(Glu91Asp) - VUS g.5247849C>R g.5226619C>R CD 90 GAG>GAC or GAT - HBB_000877 β-chain variant IthaNet-1099 - - SUMMARY record - - - 0 - IthaNet - Petros Kountouris
+?/. 2 c.279C>R Hb Saint Etienne r.(?) p.His93Gln - VUS g.5247843G>Y g.5226613G>Y - - HBB_000883 - data from Globin Gene Server (HbVar-432), OMIM:var0118, ExPASy_003004, PubMed: de, BI4639022:4639022} - rs34083951 Germline - - - 0 - HbVar - Belinda Giardine and Ross Hardison
+/. - c.279C>R Hb Saint Etienne r.(?) p.(His93Arg) - pathogenic g.5247843G>Y g.5226613G>Y CD 92 CAC>CAA or CAG [His>Gln] (Hb Istanbul) - HBB_000883 β-chain variant, Haemolytic anaemia IthaNet-1109 - - SUMMARY record - - - 0 - IthaNet - Petros Kountouris
+?/. 2 c.288G>Y Hb Detroit r.(?) p.Lys96Asn - VUS g.5247834C>R g.5226604C>R - - HBB_000892 - data from Globin Gene Server (HbVar-441), OMIM:var0067, ExPASy_003010, PubMed: Moo-Penn WF - rs36038739 Germline - - - 0 - HbVar - Belinda Giardine and Ross Hardison
?/. - c.288G>Y Hb Detroit r.(?) p.(Lys96Asn) - VUS g.5247834C>R g.5226604C>R CD 95 AAG>AAC or AAT - HBB_000892 β-chain variant IthaNet-1121 - - SUMMARY record - - - 0 - IthaNet - Petros Kountouris
+?/. 2 c.294C>R Hb Malmo r.(?) p.His98Gln - VUS g.5247828G>Y g.5226598G>Y - - HBB_000895 - data from Globin Gene Server (HbVar-444), OMIM:var0169, ExPASy_003015, PubMed: Giordano, PubMed: Landin, PubMed: Colgan - rs34515413 Germline - - - 0 - HbVar - Belinda Giardine and Ross Hardison
?/. - c.294C>R Hb Malmö r.(?) p.(His98Gln) - VUS g.5247828G>Y g.5226598G>Y CD 97 CAC>CAA, also CAC>CAG - HBB_000895 β-chain variant IthaNet-1130 - - SUMMARY record - - - 0 - IthaNet - Petros Kountouris
+?/. 2 c.300T>R Hb Coimbra r.(?) p.Asp100Glu - VUS g.5247822A>Y g.5226592A>Y - - HBB_000909 - data from Globin Gene Server (HbVar-458), OMIM:var0405, ExPASy_003018, Fairbanks VF; HbVar A-2391-2010, PubMed: Tamagnini GP - rs34013622 Germline - - - 0 - HbVar - Belinda Giardine and Ross Hardison
?/. - c.300T>R Hb Coimbra r.(?) p.Asp100Glu) - VUS g.5247822A>Y g.5226592A>Y CD 99 GAT>GAA or GAG - HBB_000909 β-chain variant IthaNet-1141 - - SUMMARY record - - - 0 - IthaNet - Petros Kountouris
+?/. 2 c.306G>Y Hb Potomac r.(?) p.Glu102Asp - VUS g.5247816C>R g.5226586C>R - - HBB_000915 - data from Globin Gene Server (HbVar-464), OMIM:var0225, ExPASy_003021, PubMed: Rubin, PubMed: Charache - rs35209591 Germline - - - 0 - HbVar - Belinda Giardine and Ross Hardison
?/. - c.306G>Y Hb Potomac r.(?) p.(Glu102Asp) - VUS g.5247816C>R g.5226586C>R CD 101 GAG>GAC or GAT - HBB_000915 β-chain variant IthaNet-1149 - - SUMMARY record - - - 0 - IthaNet - Petros Kountouris
+?/. 2 c.309C>R Hb Richmond r.(?) p.Asn103Lys - VUS g.5247813G>Y g.5226583G>Y - - HBB_000916 - data from Globin Gene Server (HbVar-465), OMIM:var0236, PubMed: Winslow, PubMed: Greer, PubMed: Efremov - rs34227486 Germline - - - 0 - HbVar - Belinda Giardine and Ross Hardison
?/. - c.309C>R Hb Richmond r.(?) p.(Asn103Lys) - VUS g.5247813G>Y g.5226583G>Y CD 102 AAC>AAA or AAG - HBB_000916 β-chain variant IthaNet-1154 - - SUMMARY record - - - 0 - IthaNet - Petros Kountouris
+?/. 2 c.315G>Y Hb Camperdown r.(?) p.Arg105Ser - VUS g.5247807C>R g.5226577C>R - - HBB_000922 - data from Globin Gene Server (HbVar-471), OMIM:var0042, ExPASy_003028, PubMed: Jensen, PubMed: Kister, PubMed: Wilkinson - rs33914944 Germline - - - 0 - HbVar - Belinda Giardine and Ross Hardison
+?/. 2 c.315G>Y Hb Duino r.spl? p.? - VUS g.5247807C>R g.5226577C>R [278A>C;315G>Y] - HBB_000922 - data from Globin Gene Server (HbVar-697), OMIM:var0427, PubMed: Wajcman H - - Germline - - - 0 - HbVar - Belinda Giardine and Ross Hardison
?/. - c.315G>Y Hb Camperdown r.spl? p.? - VUS g.5247807C>R g.5226577C>R CD 104 AGG>AGC or AGT - HBB_000922 β-chain variant IthaNet-1162 - - SUMMARY record - - - 0 - IthaNet - Petros Kountouris
-/- - c.316-272G>Y - r.spl? p.? - benign g.5247228C>R g.5225998C>R IVS II-579 G>T/G>C - HBB_004121 - IthaNet-3446 - - SUMMARY record - - - 0 - IthaNet - Petros Kountouris
+?/. 3 c.327C>R Hb Presbyterian r.(?) p.Asn109Lys - VUS g.5246945G>Y g.5225715G>Y - - HBB_000932 - data from Globin Gene Server (HbVar-481), OMIM:var0226, ExPASy_003031, PubMed: Villegas, PubMed: Horst, PubMed: Kohne - rs34933751 Germline - - - 0 - HbVar - Belinda Giardine and Ross Hardison
?/. - c.327C>R Hb Presbyterian r.(?) p.(Asn109Lys) - VUS g.5246945G>Y g.5225715G>Y CD 108 AAC>AAA or AAG - HBB_000932 β-chain variant IthaNet-1174 - - SUMMARY record - - - 0 - IthaNet - Petros Kountouris
+?/. 3 c.328G>Y Hb Johnstown r.(?) p.Val110Leu - VUS g.5246944C>R g.5225714C>R - - HBB_000935 - data from Globin Gene Server (HbVar-484), PubMed: Inoue, PubMed: Feliu-Torres, PubMed: Ropero, PubMed: Jones - rs33969677 Germline - - - 0 - HbVar - Belinda Giardine and Ross Hardison
?/. - c.328G>Y Hb Johnstown r.(?) p.(Val110Leu) - VUS g.5246944C>R g.5225714C>R CD 109 GTG>CTG or TTG - HBB_000935 β-chain variant IthaNet-1176 - - SUMMARY record - - - 0 - IthaNet - Petros Kountouris
+?/. 3 c.340G>Y Hb Champagne r.(?) p.Val114Leu - VUS g.5246932C>R g.5225702C>R - - HBB_001288 - data from Globin Gene Server (HbVar-1144), Wajcman H et al.; HbVar A-2391-2010; - rs34400584 Germline - - - 0 - HbVar - Belinda Giardine and Ross Hardison
?/. - c.340G>Y Hb Champagne r.(?) p.(Val114Leu) - VUS g.5246932C>R g.5225702C>R CD 113 GTG>CTG or TTG [Val>Leu] - HBB_001288 β-chain variant IthaNet-1186 - - SUMMARY record - - - 0 - IthaNet - Petros Kountouris
+?/. 3 c.351T>R Hb Hafnia r.(?) p.His117Gln - VUS g.5246921A>Y g.5225691A>Y - - HBB_000947 - data from Globin Gene Server (HbVar-496), OMIM:var0097, ExPASy_003039, PubMed: Blanke S - rs35209776 Germline - - - 0 - HbVar - Belinda Giardine and Ross Hardison
?/. - c.351T>R Hb Hafnia r.(?) p.(His117Gln) - VUS g.5246921A>Y g.5225691A>Y CD 116 CAT>CAA or CAG - HBB_000947 β-chain variant IthaNet-1200 - - SUMMARY record - - - 0 - IthaNet - Petros Kountouris
+?/. 3 c.369C>R^367T>C Hb Bushey r.(?) p.Phe123Leu - VUS g.5246903G>Y^5246905A>G g.5225673G>Y^5225675A>G - - HBB_001118 - data from Globin Gene Server (HbVar-797), OMIM:var0492, PubMed: Wajcman H - - Germline - - - 0 - HbVar - Belinda Giardine and Ross Hardison
+?/. 3 c.399A>Y Hb Yamagata r.(?) p.Lys133Asn - VUS g.5246873T>R g.5225643T>R - - HBB_000992 - data from Globin Gene Server (HbVar-541), OMIM:var0302, ExPASy_003069, PubMed: Han, PubMed: Harano - rs33946775 Germline - - - 0 - HbVar - Belinda Giardine and Ross Hardison
?/. - c.399A>Y Hb Yamagata r.(?) p.(Lys133Asn) - VUS g.5246873T>R g.5225643T>R CD 132 AAA>AAC, also AAA>AAT - HBB_000992 β-chain variant IthaNet-1259 - - SUMMARY record - - - 0 - IthaNet - Petros Kountouris
+?/. 3 c.420T>M Hb Hinsdale r.(?) p.Asn140Lys - VUS g.5246852A>K g.5225622A>K - - HBB_001004 - data from Globin Gene Server (HbVar-553), OMIM:var0108, ExPASy_003078, PubMed: Bonaventura, PubMed: Moo-Penn - rs34240441 Germline - - - 0 - HbVar - Belinda Giardine and Ross Hardison
?/. - c.420T>M Hb Hinsdale r.(?) p.? - VUS g.5246852A>K g.5225622A>K CD 139 AAT>AAC or AAA - HBB_001004 β-chain variant IthaNet-1281 - - SUMMARY record - - - 0 - IthaNet - Petros Kountouris
+?/. 3 c.432C>R Hb Little Rock r.(?) p.His144Gln - VUS g.5246840G>Y g.5225610G>Y - - HBB_001014 - data from Globin Gene Server (HbVar-563), OMIM:var0159, ExPASy_003086, Fairbanks VF; HbVar A-2391-2010, PubMed: Bare GH - rs36020563 Germline - - - 0 - HbVar - Belinda Giardine and Ross Hardison
?/. - c.432C>R Hb Little Rock r.(?) p.(His144Gln) - VUS g.5246840G>Y g.5225610G>Y CD 143 CAC>CAA or CAG - HBB_001014 β-chain variant IthaNet-1301 - - SUMMARY record - - - 0 - IthaNet - Petros Kountouris
?/. - c.435G>Y Hb Andrew-Minneapolis r.(?) p.(Lys145Asn) - VUS g.5246837C>R g.5225607C>R CD 144 AAG>AAT or AAC - HBB_004146 β-chain variant IthaNet-1305 - - SUMMARY record - - - 0 - IthaNet - Petros Kountouris
+?/. 1 c.46T>M Hb Belfast r.(?) p.Trp16Arg - VUS g.5248206A>K g.5226976A>K - - HBB_000697 - data from Globin Gene Server (HbVar-245), OMIM:var0019, ExPASy_002879, PubMed: Giampaolo, PubMed: Sansone, PubMed: Galanello - rs33946157 Germline - - - 0 - HbVar - Belinda Giardine and Ross Hardison
?/. - c.46T>M Hb Belfast r.(?) p.(Trp16Arg) - VUS g.5248206A>K g.5226976A>K CD 15 TGG>AGG or CGG - HBB_000697 β-chain variant IthaNet-852 - - SUMMARY record - - - 0 - IthaNet - Petros Kountouris
+?/. 1 c.48G>Y Hb Garston r.(?) p.Trp16Cys - VUS g.5248204C>R g.5226974C>R - - HBB_001807 - data from Globin Gene Server (HbVar-2888), Fraser, L.; Green, B.; Mantio, D. (F-3278-2011);HbVar A-2391-2010; - - Germline - - - 0 - HbVar - Belinda Giardine and Ross Hardison
?/. - c.48G>Y Hb Garston r.(?) p.Trp16Cys) - VUS g.5248204C>R g.5226974C>R CD 15 TGG>TGC or TGT [Trp>Cys] - HBB_001807 β-chain variant IthaNet-2464 - - SUMMARY record - - - 0 - IthaNet - Petros Kountouris
+?/. 1 c.54G>Y Hb J-Amiens r.(?) p.Lys18Asn - VUS g.5248198C>R g.5226968C>R - - HBB_000702 - data from Globin Gene Server (HbVar-250), OMIM:var0120, ExPASy_002883, PubMed: Harano T - rs36006214 Germline - - - 0 - HbVar - Belinda Giardine and Ross Hardison
?/. - c.54G>Y Hb J-Amiens r.(?) p.(Lys18Asn) - VUS g.5248198C>R g.5226968C>R CD 17 AAG>AAC or AAT - HBB_000702 β-chain variant IthaNet-858 - - SUMMARY record - - - 0 - IthaNet - Petros Kountouris
+?/. 1 c.60C>R Hb D-Ouled Rabah r.(?) p.Asn20Lys - VUS g.5248192G>Y g.5226962G>Y - - HBB_000706 - data from Globin Gene Server (HbVar-254), OMIM:var0064, ExPASy_002887, PubMed: Elion J - rs63750840 Germline - - - 0 - HbVar - Belinda Giardine and Ross Hardison
?/. - c.60C>R Hb D-Ouled Rabah r.(?) p.(Asn20His) - VUS g.5248192G>Y g.5226962G>Y CD 19 AAC>AAA or AAG - HBB_000706 β-chain variant IthaNet-863 - - SUMMARY record - - - 0 - IthaNet - Petros Kountouris
+?/. 1 c.81G>Y Hb Marijampolė r.(?) p.Glu27Asp - VUS g.5248171C>R g.5226941C>R - - HBB_001740 - data from Globin Gene Server (HbVar-2818), Fraser l; Green B; Mantio D; HbVar A-2391-2010; - rs281864581 Germline - - - 0 - HbVar - Belinda Giardine and Ross Hardison
?/. - c.81G>Y Hb Marijampolė r.(?) p.(Glu27Asp) - VUS g.5248171C>R g.5226941C>R CD 26 GAG>GAC or GAT [Glu>Asp] - HBB_001740 β-chain variant IthaNet-2403 - - SUMMARY record - - - 0 - IthaNet - Petros Kountouris
+?/. 1 c.9T>R Hb Okayama r.(?) p.His3Gln - VUS g.5248243A>Y g.5227013A>Y - - HBB_000672 - data from Globin Gene Server (HbVar-220), OMIM:var0206, ExPASy_002858, PubMed: Frers, PubMed: Harano - rs713040 Germline - - - 0 - HbVar - Belinda Giardine and Ross Hardison
?/. - c.9T>R Hb Okayama r.(?) p.(=) - VUS g.5248243A>Y g.5227013A>Y CD 2 CAT>CAA or CAG - HBB_000672 β-chain variant IthaNet-800 - - SUMMARY record - - - 0 - IthaNet - Petros Kountouris
+?/. 2 c.? Hb Edmonton r.(?) p.Thr51Lys - VUS g.? - HBB:p.Thr51Lys - HBB_000783 - data from Globin Gene Server (HbVar-331), OMIM:var0073, ExPASy_002941, PubMed: Labossiere A - - Germline - - - 0 - HbVar - Belinda Giardine and Ross Hardison
+?/. 2 c.? Hb Bristol r.(?) p.Val68Asp - VUS g.? - HBB:p.[Val68Met or Val68Asp] - HBB_000820 - data from Globin Gene Server (HbVar-369), OMIM:var0030, {EXP:002963 , PubMed: Kano, PubMed: Rees, PubMed: Steadman - - Germline - - - 0 - HbVar - Belinda Giardine and Ross Hardison
+?/. 2 c.? Hb Costa Rica r.(?) p.His78Arg - VUS g.? - HBB:p.His78Arg - HBB_000846 - data from Globin Gene Server (HbVar-395), OMIM:var0469, ExPASy_002980, PubMed: Smetanina, PubMed: Rodriguez Romero - - Germline - - - 0 - HbVar - Belinda Giardine and Ross Hardison
+?/. 3 c.? Hb K-Cameroon r.(?) p.Ala130Asp^Glu - VUS g.? - HBB:p.[Ala130Asp or Ala130Glu] - HBB_000980 - data from Globin Gene Server (HbVar-529), OMIM:var0141 - - Germline - - - 0 - HbVar - Belinda Giardine and Ross Hardison
+?/. 2 c.? Hb Koriyama r.(?) p.Lys96_Leu97insLeuHisCysAspLys - VUS g.? - HBB:p.Lys96_Leu97insLeuHisCysAspLys - HBB_001070 - data from Globin Gene Server (HbVar-737), OMIM:var0152, PubMed: Kawata R - - Germline - - - 0 - HbVar - Belinda Giardine and Ross Hardison
+?/. 3 c.? - r.0? p.0? - VUS g.5246619_5247237del g.5225389_5226007del - - HBB_001269 619 bp deletion beta0 data from Globin Gene Server (HbVar-979), PubMed: Baysal, PubMed: Orkin, PubMed: Orkin - - Germline - - - 0 - HbVar - Belinda Giardine and Ross Hardison
+?/. - c.? - r.0? p.0? - VUS g.5247394_5248786del g.5226164_5227556del - - HBB_001270 1,393 bp deletion beta0 data from Globin Gene Server (HbVar-980), PubMed: Waye, PubMed: Anand, PubMed: Thein, PubMed: Padanilam, PubMed: Gonzalez-Redondo - - Germline - - - 0 - HbVar - Belinda Giardine and Ross Hardison
+?/. - c.? Croatian deletion beta0 r.0? p.0? - VUS g.5247682_5249285del g.5226452_5228055del - - HBB_001271 1,605 bp deletion data from Globin Gene Server (HbVar-981), PubMed: Dimovski AJ - - Germline - - - 0 - HbVar - Belinda Giardine and Ross Hardison
+?/. - c.? Dutch deletion beta r.0? p.0? - VUS g.5238170_5250781del g.5216940_5229551del g.5238164_5250775del - HBB_001272 12,620 bp deletion data from Globin Gene Server (HbVar-987), PubMed: Gilman, PubMed: Gilman, PubMed: Schokker - - Germline - - - 0 - HbVar - Belinda Giardine and Ross Hardison
+?/. - c.? Filipino deletion beta0 r.0? p.0? - VUS g.5134113_5252589del g.5112883_5231359del g.5134112_5252588del - HBB_001273 ~45 kb deletion data from Globin Gene Server (HbVar-989), Seelig HP; Wiemann C (B-1746-2010);HbVar A-2391-2010, PubMed: Eng, PubMed: Waye, PubMed: Harteveld, PubMed: Dimovski - - Germline - - - 0 - HbVar - Belinda Giardine and Ross Hardison
+?/. 2 c.? - r.? p.? - VUS g.5247869_5247870ins(?) - codon 84 (65bp duplication) - HBB_001362 - data from Globin Gene Server (HbVar-2558), Dutly F, Frischknecht H, Kalin M; HbVar A-2391-2010; - - Germline - - - 0 - HbVar - Belinda Giardine and Ross Hardison
+?/. 1 c.? Hb Lepore-Hollandia r.? p.? - VUS g.5248144_5255556del g.5226914_5234326del - - HBB_001451 - data from Globin Gene Server (HbVar-742), OMIM:var0021, PubMed: Waye, PubMed: McDonald - - Germline - - - 0 - HbVar - Belinda Giardine and Ross Hardison
+?/. 1-2 c.? Hb Lepore-Baltimore r.? p.? - VUS g.5247868_5255282del g.5226638_5234052del - - HBB_001453 - data from Globin Gene Server (HbVar-743), OMIM:var0019, PubMed: Ribeiro, PubMed: Miranda, PubMed: Villegas, PubMed: Efremov, PubMed: Ostertag - - Germline - - - 0 - HbVar - Belinda Giardine and Ross Hardison
+?/. 1-2 c.? Hb Lepore-Boston-Washington r.? p.? - VUS g.5247800_5255214del g.5226570_5233984del - - HBB_001455 - data from Globin Gene Server (HbVar-744), OMIM:var0020, PubMed: Fioretti, PubMed: Labie, PubMed: Ribeiro - - Germline - - - 0 - HbVar - Belinda Giardine and Ross Hardison
+?/. 1-2 c.? Hb Parchman r.? p.? - VUS g.? - g.[5248185_5255597del(;)5247861_5255275del] - HBB_001457 - data from Globin Gene Server (HbVar-745), OMIM:var0022, PubMed: Adams JG 3d - - Germline - - - 0 - HbVar - Belinda Giardine and Ross Hardison
+?/. 1-2 c.? Hb Kenya r.? p.? - VUS g.5247862_5270653del g.5226632_5249423del g.5247861_5270652del - HBB_001466 - data from Globin Gene Server (HbVar-751), OMIM:var0025, Fairbanks VF (HbVar A-2391-2010), PubMed: Rai, PubMed: Waye, PubMed: Ojwang, PubMed: Nute - - Germline - - - 0 - HbVar - Belinda Giardine and Ross Hardison
+?/. 1-3 c.? HPFH-1; Black r.? p.? - VUS g.5174451_5259368del g.5153221_5238138del - - HBB_001468 - data from Globin Gene Server (HbVar-1021), PubMed: Huisman, PubMed: Adams, PubMed: Martinez, PubMed: Feingold, PubMed: Jagadeeswaran - - Germline - - - 0 - HbVar - Belinda Giardine and Ross Hardison
+?/. 1-3 c.? HPFH-2; Ghanaian r.? p.? - VUS g.5179668_5263979del g.5158438_5242749del - - HBB_001470 - data from Globin Gene Server (HbVar-1022), PubMed: Collins, PubMed: Ringelhann, PubMed: Bakioglu, PubMed: Kutlar, PubMed: Tuan - - Germline - - - 0 - HbVar - Belinda Giardine and Ross Hardison
+?/. 1-3 c.? HPFH-3; Indian r.? p.? - VUS g.5215690_5265457del g.5194460_5244227del g.5215689_5265456del - HBB_001472 - data from Globin Gene Server (HbVar-1023), PubMed: Henthorn, PubMed: Schroeder, PubMed: Kutlar - - Germline - - - 0 - HbVar - Belinda Giardine and Ross Hardison
+?/. 1-3 c.? Indian GgammaAgamma(deltabeta)0-Thal r.? p.? - VUS g.5235676_5268337del g.5214446_5247107del - - HBB_001474 - data from Globin Gene Server (HbVar-1028), PubMed: Gilman, PubMed: Mishima - - Germline - - - 0 - HbVar - Belinda Giardine and Ross Hardison
+?/. 1-3 c.? - r.? p.? - VUS g.5153698_5267363del g.5132468_5246133del - - HBB_001476 - data from Globin Gene Server (HbVar-1029), PubMed: Shiokawa, PubMed: Matsunaga - - Germline - - - 0 - HbVar - Belinda Giardine and Ross Hardison
+?/. 1-3 c.? Sicilian (deltabeta)0-Thal r.? p.? - VUS g.5241108_5254510del g.5219878_5233280del - - HBB_001478 - data from Globin Gene Server (HbVar-1035), PubMed: Craig, PubMed: Ottolenghi, PubMed: Fritsch, PubMed: Henthorn - - Germline - - - 0 - HbVar - Belinda Giardine and Ross Hardison
+?/. 1-3 c.? Turkish Ggamma(Agammadeltabeta)0-Thal r.? p.? - VUS g.5237182_5273437del g.5215952_5252207del g.5237181_5273436del - HBB_001481 - data from Globin Gene Server (HbVar-1042), PubMed: Dincol, PubMed: Orkin, PubMed: Orkin, PubMed: Fritsch, PubMed: Tuan, PubMed: Henthorn - - Germline - - - 0 - HbVar - Belinda Giardine and Ross Hardison
+?/. 1-3 c.? Black Ggamma(Agammadeltabeta)0-Thal r.? p.? - VUS g.5233957_5269806del g.5212727_5248576del - - HBB_001484 - data from Globin Gene Server (HbVar-1045), PubMed: Henthorn, PubMed: Henthorn - - Germline - - - 0 - HbVar - Belinda Giardine and Ross Hardison
+?/. 1-3 c.? Chinese Ggamma(Agammadeltabeta)0-Thal r.? p.? - VUS g.5191148_5270051del g.5169918_5248821del - - HBB_001487 - data from Globin Gene Server (HbVar-1046), PubMed: Mager, PubMed: Jones - - Germline - - - 0 - HbVar - Belinda Giardine and Ross Hardison
+?/. 1-3 c.? HPFH-6 r.? p.? - VUS g.5193974_5273251del g.5172744_5252021del - - HBB_001490 - data from Globin Gene Server (HbVar-1048), PubMed: Kosteas, PubMed: Winichagoon, PubMed: Fucharoen - - Germline - - - 0 - HbVar - Belinda Giardine and Ross Hardison
+?/. 1-3 c.? Spanish (deltabeta)0-Thal r.? p.? - VUS g.5165561_5258471del g.5144331_5237241del - - HBB_001547 - data from Globin Gene Server (HbVar-1030), PubMed: Ottolenghi, PubMed: Camaschella, PubMed: Baiget, PubMed: Feingold - - Germline - - - 0 - HbVar - Belinda Giardine and Ross Hardison
+?/. 1-3 c.? Black (deltabeta)0-Thal r.? p.? - VUS g.5246295_5258116del g.5225065_5236886del - - HBB_001548 - data from Globin Gene Server (HbVar-1031), - - Germline - - - 0 - HbVar - Belinda Giardine and Ross Hardison
+?/. 1-3 c.? German Ggamma(Agammadeltabeta)0-Thal r.? p.? - VUS g.5219206_5272527del g.5197976_5251297del - - HBB_001551 - data from Globin Gene Server (HbVar-1039), PubMed: Anagnou NP - - Germline - - - 0 - HbVar - Belinda Giardine and Ross Hardison
+?/. 1-3 c.? Malay-2 Ggamma(Agammadeltabeta)0-Thal r.? p.? - VUS g.5228697_5271293del g.5207467_5250063del - - HBB_001554 - data from Globin Gene Server (HbVar-1043), PubMed: George E - - Germline - - - 0 - HbVar - Belinda Giardine and Ross Hardison
+?/. 1-2 c.? Anglo-Saxon (epsilon-gamma-delta-beta)0-Thal r.? p.? - VUS g.5247927_5343649del g.5226697_5322419del beta -176(C>T) - HBB_001558 - data from Globin Gene Server (HbVar-1052), PubMed: Orkin, PubMed: Kan - - Germline - - - 0 - HbVar - Belinda Giardine and Ross Hardison
+?/. 1-3 c.? Irish (epsilon-gamma-delta-beta)0-Thal r.? p.? - VUS g.5153536_5356385del g.5132306_5335155del - - HBB_001562 - data from Globin Gene Server (HbVar-1055), PubMed: Fortina P - - Germline - - - 0 - HbVar - Belinda Giardine and Ross Hardison
+?/. 1 c.? Dutch (epsilon-gamma-delta-beta)0-Thal r.? p.? - VUS g.5250662_5350493del g.5229432_5329263del - - HBB_001687 - data from Globin Gene Server (HbVar-1056), PubMed: Van der Ploeg LH - - Germline - - - 0 - HbVar - Belinda Giardine and Ross Hardison
+?/. 1 c.? Hb Ulsan r.? p.? - VUS g.5248192_5275900del g.5226962_5254670del - - HBB_001732 - data from Globin Gene Server (HbVar-2807), PubMed: Kim SY - - Germline - - - 0 - HbVar - Belinda Giardine and Ross Hardison
+?/. 1 c.? Kabylian deletion-insertion r.? p.? - VUS g.5254798_5256837del g.5233568_5235607del - - HBB_001793 - data from Globin Gene Server (HbVar-2875), PubMed: Joly P - - Germline - - - 0 - HbVar - Belinda Giardine and Ross Hardison
+?/. 3 c.? - r.? p.? - VUS g.5239579_5247297del g.5218349_5226067del g.5239577_5247295del - HBB_001794 -7719 bp del data from Globin Gene Server (HbVar-2880), PubMed: Pissard S - - Germline - - - 0 - HbVar - Belinda Giardine and Ross Hardison
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