Unique variants in the HBG2 gene

Information The variants shown are described using the NM_000184.2 transcript reference sequence.

80 entries on 1 page. Showing entries 1 - 80.
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Effect     

Reported     

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     
+?/. 1 2 c.198G>Y Hb F-Clarke r.(?) p.Lys66Asn - VUS g.5275639C>R g.5254409C>R - - HBG2_000590 - data from Globin Gene Server (HbVar-602), OMIM:var0005, ExPASy_003155, PubMed: Kutlar - rs34019507 Germline - - - - - HbVar - Belinda Giardine and Ross Hardison
+?/. 1 1 c.25A>R Hb F-Albaicin r.(?) p.Lys9Glu - VUS g.5275934T>Y g.5254704T>Y - - HBG2_000571 - 1 more item - rs35521813 Germline - - - - - HbVar - Belinda Giardine and Ross Hardison
+?/. 1 - c.54G>Y Hb F-Clamart r.(?) p.Lys18Asn - VUS g.5275905C>R g.5254675C>R - - HBG2_000611 - data from Globin Gene Server (HbVar-872), OMIM:var0048, PubMed: Wajcman H - rs35621390 Germline - - - - - HbVar - Belinda Giardine and Ross Hardison
+?/. 1 - c.60T>R Hb F-Ouled Rabah r.(?) p.Asn20Lys - VUS g.5275899A>Y g.5254669A>Y - - HBG2_000610 - data from Globin Gene Server (HbVar-852), OMIM:var0049, PubMed: Wajcman H - rs34018799 Germline - - - - - HbVar - Belinda Giardine and Ross Hardison
+?/. 1 _1 c.-255C>G nd-HPFH r.(?) p.(?) - VUS g.5276213G>C g.5254983G>C -202 (C->G) Ggamma - HBG2_000613 - data from Globin Gene Server (HbVar-1006), OMIM:var0026, PubMed: Huisman, PubMed: Collins - rs35617911 Germline - - - - - HbVar - Belinda Giardine and Ross Hardison
+?/. 1 _1 c.-250C>T - r.(?) p.(?) - VUS g.5276208G>A g.5254978G>A G Gamma -197 C>T - HBG2_001650 - data from Globin Gene Server (HbVar-2709), Barnaby C (E-6612-2010); - rs281864523 Germline - - - - - HbVar - Belinda Giardine and Ross Hardison
+?/. 1 _1 c.-228T>C nd-HPFH r.(?) p.(?) - VUS g.5276186A>G g.5254956A>G -175 (T->C) Ggamma - HBG2_000614 - data from Globin Gene Server (HbVar-1012), OMIM:var0027, PubMed: Friedman - rs63750654 Germline - - - - - HbVar - Belinda Giardine and Ross Hardison
+?/. 1 _1 c.-167C>A Algerian nd-HPFH r.(?) p.(?) - VUS g.5276125G>T g.5254895G>T -114(C->A)Ggamma - HBG2_000620 - data from Globin Gene Server (HbVar-1163), OMIM:var0046, PubMed: Zertal-Zidani - rs34809449 Germline - - - - - HbVar - Belinda Giardine and Ross Hardison
+?/. 1 _1 c.-167C>G Australian nd-HPFH r.(?) p.(?) - VUS g.5276125G>C g.5254895G>C -114 (C->G) Ggamma - HBG2_000615 - data from Globin Gene Server (HbVar-1016), PubMed: Motum PI - rs34809449 Germline - - - - - HbVar - Belinda Giardine and Ross Hardison
+?/. 1 _1 c.-167C>T Japanese nd-HPFH r.(?) p.(?) - VUS g.5276125G>A g.5254895G>A -114 (C->T) Ggamma - HBG2_000616 - data from Globin Gene Server (HbVar-1017), OMIM:var0035, PubMed: Fucharoen - rs34809449 Germline - - - - - HbVar - Belinda Giardine and Ross Hardison
+?/. 1 _1 c.-163A>C Czech nd-HPFH r.(?) p.(?) - VUS g.5276121T>G g.5254891T>G -110 (A->C) Ggamma - HBG2_000617 - data from Globin Gene Server (HbVar-1019), PubMed: Indrak K - rs35232648 Germline - - - - - HbVar - Belinda Giardine and Ross Hardison
+/. 1 - c.190C> T - r.(?) p.(His64Tyr) - pathogenic g.5275647G>A - - - HBG2_000589 - - - - De novo - - - - - Sha Hong
+?/. 1 - c.4G>A Hb F-Montchat r.(?) p.(Gly2Ser) - VUS g.5275955C>T g.5254725C>T - - HBG2_001771 - data from Globin Gene Server (HbVar-2850), FRANCINA A.; JOLY P. (E-4142-2010);HbVar A-2391-2010; - - Germline - - - - - HbVar - Belinda Giardine and Ross Hardison
+?/. 1 1 c.4G>T Hb F-Malaysia r.(?) p.(Gly2Cys) - VUS g.5275955C>A g.5254725C>A - - HBG2_000568 - data from Globin Gene Server (HbVar-580), OMIM:var0013, ExPASy_003123, PubMed: Eng - rs36006195 Germline - - - - - HbVar - Belinda Giardine and Ross Hardison
+?/. 1 - c.5G>A Hb F-Hayward r.(?) p.(Gly2Asp) - VUS g.5275954C>T g.5254724C>T - - HBG2_001988 - Hbvar-?, PubMed: Cui J - - Germline - - - - - HbVar - Belinda Giardine and Ross Hardison
+?/. 1 1 c.17A>G Hb F-Meinohama r.(?) p.(Glu6Gly) - VUS g.5275942T>C g.5254712T>C - - HBG2_000569 - data from Globin Gene Server (HbVar-581), OMIM:var0016, ExPASy_003126, PubMed: Ohta - rs34263826 Germline - - - - - HbVar - Belinda Giardine and Ross Hardison
+?/. 1 - c.19G>A Hb F-Texas-II r.(?) p.(Glu7Lys) - VUS g.5275940C>T g.5254710C>T - - HBG2_000607 - data from Globin Gene Server (HbVar-640), PubMed: Larkin - rs281864893 Germline - - - - - HbVar - Belinda Giardine and Ross Hardison
+?/. 1 1 c.22G>A Hb F-Auckland r.(?) p.(Asp8Asn) - VUS g.5275937C>T g.5254707C>T - - HBG2_000570 - data from Globin Gene Server (HbVar-582), OMIM:var0002, ExPASy_003129, PubMed: Chen, PubMed: Carrell - rs34501593 Germline - - - - - HbVar - Belinda Giardine and Ross Hardison
+?/. 1 - c.38C>A Hb F-Alexandra r.(?) p.(Thr13Lys) - VUS g.5275921G>T g.5254691G>T - - HBG2_000608 - data from Globin Gene Server (HbVar-641), PubMed: Loukopoulos, PubMed: Vella - rs281864890 Germline - - - - - HbVar - Belinda Giardine and Ross Hardison
+?/. 1 1 c.38C>G Hb F-Heather r.(?) p.(Thr13Arg) - VUS g.5275921G>C g.5254691G>C - - HBG2_000572 - 1 more item - rs281864890 Germline - - - - - HbVar - Belinda Giardine and Ross Hardison
+?/. 1 1 c.46T>C Hb F-Catalonia r.(?) p.(Trp16Arg) - VUS g.5275913A>G g.5254683A>G - - HBG2_000573 - data from Globin Gene Server (HbVar-585), OMIM:var0036, ExPASy_003131, PubMed: Plaseska - rs34438981 Germline - - - - - HbVar - Belinda Giardine and Ross Hardison
+?/. 1 1 c.49G>C Hb F-Melbourne r.(?) p.(Gly17Arg) - VUS g.5275910C>G g.5254680C>G - - HBG2_000574 - data from Globin Gene Server (HbVar-586), OMIM:var0017, ExPASy_003132, PubMed: Brennan - rs34907654 Germline - - - - - HbVar - Belinda Giardine and Ross Hardison
+?/. 1 - c.62T>C Hb F-Bron r.(?) p.(Val21Ala) - VUS g.5275897A>G g.5254667A>G - - HBG2_000621 - data from Globin Gene Server (HbVar-2526), PubMed: Lacan - rs63751196 Germline - - - - - HbVar - Belinda Giardine and Ross Hardison
+?/. 1 1 c.64G>A Hb F-Saskatoon r.(?) p.(Glu22Lys) - VUS g.5275895C>T g.5254665C>T - - HBG2_000576 - data from Globin Gene Server (HbVar-588), ExPASy_003133, PubMed: Pobedimskaya - rs33955330 Germline - - - - - HbVar - Belinda Giardine and Ross Hardison
+?/. 1 1 c.64G>C Hb F-Fuchu r.(?) p.(Glu22Gln) - VUS g.5275895C>G g.5254665C>G - - HBG2_000575 - data from Globin Gene Server (HbVar-587), OMIM:var0007, ExPASy_003134, PubMed: Wada - rs33955330 Germline - - - - - HbVar - Belinda Giardine and Ross Hardison
+?/. 1 1 c.68A>G Hb F-Urumqi r.(?) p.(Asp23Gly) - VUS g.5275891T>C g.5254661T>C - - HBG2_000577 - data from Globin Gene Server (HbVar-589), OMIM:var0024, ExPASy_020648, PubMed: Hu - rs281864891 Germline - - - - - HbVar - Belinda Giardine and Ross Hardison
+?/. 1 1 c.68A>T Hb F-Granada r.(?) p.(Asp23Val) - VUS g.5275891T>A g.5254661T>A - - HBG2_000578 - data from Globin Gene Server (HbVar-590), OMIM:var0029, ExPASy_003136, PubMed: de Pablos - rs281864891 Germline - - - - - HbVar - Belinda Giardine and Ross Hardison
+?/. 1 1 c.77G>A Hb F-Cosenza r.(?) p.(Gly26Glu) - VUS g.5275882C>T g.5254652C>T - - HBG2_000579 - data from Globin Gene Server (HbVar-591), OMIM:var0037, ExPASy_003137, PubMed: Qualtieri - rs35687396 Germline - - - - - HbVar - Belinda Giardine and Ross Hardison
+?/. 1 1 c.79G>A Hb F-Oakland r.(?) p.(Glu27Lys) - VUS g.5275880C>T g.5254650C>T - - HBG2_000580 - data from Globin Gene Server (HbVar-592), OMIM:var0019, ExPASy_003139, PubMed: Kleman - rs35654328 Germline - - - - - HbVar - Belinda Giardine and Ross Hardison
+?/. 1 - c.85C>A Hb F-Viseu r.(?) p.(Leu29Met) - VUS g.5275874G>T g.5254644G>T - - HBG2_002000 - Hbvar-?, PubMed: Bento C - - Germline - - - - - HbVar - Belinda Giardine and Ross Hardison
+?/. 1 2 c.103G>A Hb F-Tokyo r.(?) p.(Val35Ile) - VUS g.5275734C>T g.5254504C>T - - HBG2_000581 - data from Globin Gene Server (HbVar-593), OMIM:var0023, ExPASy_003140, PubMed: Chen - rs35885783 Germline - - - - - HbVar - Belinda Giardine and Ross Hardison
+?/. 1 2 c.112T>G Hb F-Cobb II r.(?) p.(Trp38Gly) - VUS g.5275725A>C g.5254495A>C - - HBG2_001833 - data from Globin Gene Server (HbVar-2916), Dr. Philippe JOLY (E-4142-2010); - - Germline - - - - - HbVar - Belinda Giardine and Ross Hardison
+?/. 1 2 c.115A>C Hb F-Bonheiden r.(?) p.(Thr39Pro) - VUS g.5275722T>G g.5254492T>G - - HBG2_000619 - data from Globin Gene Server (HbVar-1152), PubMed: Van den Driessche - rs35799058 Germline - - - - - HbVar - Belinda Giardine and Ross Hardison
+?/. 1 2 c.121A>G Hb F-Veleta r.(?) p.(Arg41Gly) - VUS g.5275716T>C g.5254486T>C - - HBG2_000583 - data from Globin Gene Server (HbVar-595), OMIM:var0044, ExPASy_003144, PubMed: de Pablos Gallego - rs34532478 Germline - - - - - HbVar - Belinda Giardine and Ross Hardison
+?/. 1 2 c.122G>A Hb F-Austell r.(?) p.(Arg41Lys) - VUS g.5275715C>T g.5254485C>T - - HBG2_000582 - data from Globin Gene Server (HbVar-594), OMIM:var0030, ExPASy_020649, PubMed: Kutlar - rs281864892 Germline - - - - - HbVar - Belinda Giardine and Ross Hardison
+?/. 1 2 c.124T>C Hb F-Avellino r.(?) p.(Phe42Leu) - VUS g.5275713A>G g.5254483A>G - - HBG2_001832 - data from Globin Gene Server (HbVar-2915), B. MASALA (A-2272-2011); - - Germline - - - - - HbVar - Belinda Giardine and Ross Hardison
+?/. 1 2 c.125T>C Hb F-Cincinnati r.(?) p.(Phe42Ser) - VUS g.5275712A>G g.5254482A>G - - HBG2_000584 - data from Globin Gene Server (HbVar-596), OMIM:var0041, ExPASy_003146, PubMed: Kohli-Kumar - rs34878913 Germline - - - - - HbVar - Belinda Giardine and Ross Hardison
+?/. 1 2 c.133A>C Hb F-Lodz r.(?) p.(Ser45Arg) - VUS g.5275704T>G g.5254474T>G - - HBG2_000585 - 1 more item - rs34017450 Germline - - - - - HbVar - Belinda Giardine and Ross Hardison
+?/. 1 2 c.167T>G Hb F-Kingston r.(?) p.(Met56Arg) - VUS g.5275670A>C g.5254440A>C - - HBG2_000586 - data from Globin Gene Server (HbVar-598), OMIM:var0010, ExPASy_003150, PubMed: Pablos, PubMed: GR - rs34915311 Germline - - - - - HbVar - Belinda Giardine and Ross Hardison
+?/. 1 2 c.178A>C Hb F-Sacromonte r.(?) p.(Lys60Gln) - VUS g.5275659T>G g.5254429T>G - - HBG2_000587 - 1 more item - rs28933078 Germline - - - - - HbVar - Belinda Giardine and Ross Hardison
+?/. 1 2 c.178A>G Hb F-Emirates r.(?) p.(Lys60Glu) - VUS g.5275659T>C g.5254429T>C - - HBG2_000588 - data from Globin Gene Server (HbVar-600), OMIM:var0042, ExPASy_003151, PubMed: Abbes - rs28933078 Germline - - - - - HbVar - Belinda Giardine and Ross Hardison
+?/. 1 2 c.179A>G Hb F-Augusta GA r.(?) p.(Lys60Arg) - VUS g.5275658T>C g.5254428T>C - - HBG2_001989 - Hbvar-?, PubMed: Kutlar F - - Germline - - - - - HbVar - Belinda Giardine and Ross Hardison
+?/. 1 2 c.190C>T Hb F-M-Osaka r.(?) p.(His64Tyr) - VUS g.5275647G>A g.5254417G>A - - HBG2_000589 - 1 more item - rs34474104 Germline - - - - - HbVar - Belinda Giardine and Ross Hardison
+?/. 1 2 c.191A>T Hb F-Circleville r.(?) p.(His64Leu) - VUS g.5275646T>A g.5254416T>A - - HBG2_002012 - Hbvar-?, PubMed: Dainer E - - Germline - - - - - HbVar - Belinda Giardine and Ross Hardison
+?/. 1 2 c.194G>A Hb F-Turritana r.(?) p.(Gly65Asp) - VUS g.5275643C>T g.5254413C>T - - HBG2_001824 - data from Globin Gene Server (HbVar-2906), Pirastru; HbVar A-2391-2010; - - Germline - - - - - HbVar - Belinda Giardine and Ross Hardison
+?/. 1 2 c.199A>C Hb F-Brooklyn r.(?) p.(Lys67Gln) - VUS g.5275638T>G g.5254408T>G - - HBG2_000592 - data from Globin Gene Server (HbVar-604), OMIM:var0031, ExPASy_003157, PubMed: Plaseska - rs34264694 Germline - - - - - HbVar - Belinda Giardine and Ross Hardison
+?/. 1 2 c.200A>G Hb F-Shanghai r.(?) p.(Lys67Arg) - VUS g.5275637T>C g.5254407T>C - - HBG2_000591 - data from Globin Gene Server (HbVar-603), OMIM:var0022, ExPASy_003156, PubMed: Zeng - rs35481866 Germline - - - - - HbVar - Belinda Giardine and Ross Hardison
+?/. 1 2 c.202G>A Hb F-Heuried r.(?) p.(Val68Met) - VUS g.5275635C>T g.5254405C>T - - HBG2_001845 - 1 more item - - Germline - - - - - HbVar - Belinda Giardine and Ross Hardison
+?/. 1 2 c.217G>C Hb F-Minoo r.(?) p.(Gly73Arg) - VUS g.5275620C>G g.5254390C>G - - HBG2_000593 - data from Globin Gene Server (HbVar-605), OMIM:var0018, ExPASy_020650, PubMed: Wada - rs281860594 Germline - - - - - HbVar - Belinda Giardine and Ross Hardison
+?/. 1 2 c.226A>G Hb F-Coigneres r.(?) p.(Ile76Val) - VUS g.5275611T>C g.5254381T>C - - HBG2_000618 - data from Globin Gene Server (HbVar-1115), Wajcman H (D-2111-2010), PubMed: Wajcman - rs34363111 Germline - - - - - HbVar - Belinda Giardine and Ross Hardison
+?/. 1 2 c.227T>C Hb F-Lesvos r.(?) p.(Ile76Thr) - VUS g.5275610A>G g.5254380A>G - - HBG2_000594 - 1 more item - rs104894225 Germline - - - - - HbVar - Belinda Giardine and Ross Hardison
+?/. 1 2 c.233A>G Hb F-Kennestone r.(?) p.(His78Arg) - VUS g.5275604T>C g.5254374T>C - - HBG2_000595 - data from Globin Gene Server (HbVar-607), OMIM:var0009, ExPASy_003162, PubMed: Nakatsuji - rs34150306 Germline - - - - - HbVar - Belinda Giardine and Ross Hardison
+?/. 1 2 c.238G>C Hb F-Saint-Etienne r.(?) p.(Asp80His) - VUS g.5275599C>G g.5254369C>G - - HBG2_000623 - data from Globin Gene Server (HbVar-2618), Francina A (E-3974-2010); - rs281864470 Germline - - - - - HbVar - Belinda Giardine and Ross Hardison
+?/. 1 2 c.241G>A Hb F-Marietta r.(?) p.(Asp81Asn) - VUS g.5275596C>T g.5254366C>T - - HBG2_000596 - data from Globin Gene Server (HbVar-608), OMIM:var0015, ExPASy_020652, PubMed: Nakatsuji - rs63751148 Germline - - - - - HbVar - Belinda Giardine and Ross Hardison
+?/. 1 2 c.241G>T Hb F-Paulinia r.(?) p.(Asp81Tyr) - VUS g.5275596C>A g.5254366C>A - - HBG2_001713 - data from Globin Gene Server (HbVar-2790), PubMed: Mereu - rs63751148 Germline - - - - - HbVar - Belinda Giardine and Ross Hardison
+?/. 1 2 c.269G>A Hb F-Careggi r.(?) p.(Ser90Asn) - VUS g.5275568C>T g.5254338C>T - - HBG2_002036 - Hbvar-?, Maffei et al; HbVar A-2391-2010; - - Germline - - - - - HbVar - Belinda Giardine and Ross Hardison
+?/. 1 2 c.277C>T Hb F-M-Fort Ripley r.(?) p.(His93Tyr) - VUS g.5275560G>A g.5254330G>A - - HBG2_000597 - 1 more item - rs35103459 Germline - - - - - HbVar - Belinda Giardine and Ross Hardison
+?/. 1 2 c.280T>C Hb F-Monserrato-Sassari r.(?) p.(Cys94Arg) - VUS g.5275557A>G g.5254327A>G - - HBG2_001726 - data from Globin Gene Server (HbVar-2810), Masala B (A-2272-2011), PubMed: Pellegrini - rs281864576 Germline - - - - - HbVar - Belinda Giardine and Ross Hardison
+?/. 1 2 c.283G>A Hb F-Columbus-GA r.(?) p.(Asp95Asn) - VUS g.5275554C>T g.5254324C>T - - HBG2_000598 - data from Globin Gene Server (HbVar-610), OMIM:var0006, ExPASy_003167, PubMed: Nakatsuji - rs35812514 Germline - - - - - HbVar - Belinda Giardine and Ross Hardison
+?/. 1 2 c.293A>G Hb F-Lyon r.(?) p.(His98Arg) - VUS g.5275544T>C g.5254314T>C - - HBG2_000622 - data from Globin Gene Server (HbVar-2617), Francina A (E-3974-2010); - rs281864469 Germline - - - - - HbVar - Belinda Giardine and Ross Hardison
+?/. 1 2 c.304G>A Hb F-La Grange r.(?) p.(Glu102Lys) - VUS g.5275533C>T g.5254303C>T - - HBG2_000599 - data from Globin Gene Server (HbVar-611), OMIM:var0011, ExPASy_003169, PubMed: Nakatsuji - rs34876238 Germline - - - - - HbVar - Belinda Giardine and Ross Hardison
+?/. 1 2 c.304G>C Hb F-Zheijang r.(?) p.(Glu102Gln) - VUS g.5275533C>G g.5254303C>G - - HBG2_001588 - data from Globin Gene Server (HbVar-2653), - rs34876238 Germline - - - - - HbVar - Belinda Giardine and Ross Hardison
+?/. 1 2 c.308A>C Hb F-Sarajevo r.(?) p.(Asn103Thr) - VUS g.5275529T>G g.5254299T>G - - HBG2_000624 - 1 more item - rs281864476 Germline - - - - - HbVar - Belinda Giardine and Ross Hardison
+?/. 1 2 c.315G>C Hb F-Macedonia-II r.(?) p.(Lys105Asn) - VUS g.5275522C>G g.5254292C>G - - HBG2_000600 - data from Globin Gene Server (HbVar-612), OMIM:var0040, ExPASy_003170, PubMed: Plaseska - rs35717854 Germline - - - - - HbVar - Belinda Giardine and Ross Hardison
+?/. 1 3 c.317T>A Hb F-Feldkirch r.(?) p.(Leu106His) - VUS g.5274634A>T g.5253404A>T - - HBG2_001785 - 1 more item - - Germline - - - - - HbVar - Belinda Giardine and Ross Hardison
+?/. 1 3 c.327T>A Hb F-Ube r.(?) p.(Asn109Lys) - VUS g.5274624A>T g.5253394A>T - - HBG2_000609 - data from Globin Gene Server (HbVar-642) - rs281860625 Germline - - - - - HbVar - Belinda Giardine and Ross Hardison
+?/. 1 3 c.353A>G Hb F-Malta-I r.(?) p.(His118Arg) - VUS g.5274598T>C g.5253368T>C - - HBG2_000601 - 1 more item - rs36049074 Germline - - - - - HbVar - Belinda Giardine and Ross Hardison
+?/. 1 3 c.355T>C Hb F-Calabria r.(?) p.(Phe119Leu) - VUS g.5274596A>G g.5253366A>G - - HBG2_000612 - data from Globin Gene Server (HbVar-892), OMIM:var0047, ExPASy_015740, PubMed: Manca - rs35020253 Germline - - - - - HbVar - Belinda Giardine and Ross Hardison
+?/. 1 3 c.361A>C Hb F-Caltech r.(?) p.(Lys121Gln) - VUS g.5274590T>G g.5253360T>G - - HBG2_000602 - data from Globin Gene Server (HbVar-614), OMIM:var0003, ExPASy_003172, PubMed: Shelton - rs34703519 Germline - - - - - HbVar - Belinda Giardine and Ross Hardison
+?/. 1 3 c.364G>A Hb F-Carlton r.(?) p.(Glu122Lys) - VUS g.5274587C>T g.5253357C>T - - HBG2_000603 - data from Globin Gene Server (HbVar-615), OMIM:var0004, ExPASy_020653, PubMed: Brennan - rs63750021 Germline - - - - - HbVar - Belinda Giardine and Ross Hardison
+?/. 1 3 c.377A>C Hb F-Port Royal r.(?) p.(Glu126Ala) - VUS g.5274574T>G g.5253344T>G - - HBG2_000604 - 1 more item - rs34997902 Germline - - - - - HbVar - Belinda Giardine and Ross Hardison
+?/. 1 3 c.391T>G Hb F-Poole r.(?) p.(Trp131Gly) - VUS g.5274560A>C g.5253330A>C - - HBG2_000605 - data from Globin Gene Server (HbVar-617), OMIM:var0020, ExPASy_003176, PubMed: Lee-Potter - rs35826780 Germline - - - - - HbVar - Belinda Giardine and Ross Hardison
+?/. 1 3 c.410G>A Hb F-Privas r.(?) p.(Gly137Glu) - VUS g.5274541C>T g.5253311C>T - - HBG2_001772 - data from Globin Gene Server (HbVar-2851), FRANCINA A.; JOLY P. (E-4142-2010);HbVar A-2391-2010; - - Germline - - - - - HbVar - Belinda Giardine and Ross Hardison
+?/. 1 3 c.439C>T Hb F-Onoda r.(?) p.(His147Tyr) - VUS g.5274512G>A g.5253282G>A - - HBG2_000606 - data from Globin Gene Server (HbVar-618), OMIM:var0032, ExPASy_003179, PubMed: Harano - rs34807671 Germline - - - - - HbVar - Belinda Giardine and Ross Hardison
+?/. 1 3 c.440A>G Hb F-Istambul r.(?) p.(His147Arg) - VUS g.5274511T>C g.5253281T>C - - HBG2_001725 - data from Globin Gene Server (HbVar-2809), Brintrup J (G-1990-2010);Joly P; HbVar A-2391-2010; - rs281864575 Germline - - - - - HbVar - Belinda Giardine and Ross Hardison
-/. 1 - c.*54_*55insA - r.(=) p.(=) - benign g.5274452_5274453insT g.5253222_5253223insT HBG2(NM_000184.3):c.*54_*55insA - HBG1_003005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-/. 1 - c.*3821C>T - r.(=) p.(=) - benign g.5270686G>A g.5249456G>A HBG1(NM_000559.2):c.227C>T (p.T76I) - HBG1_000639 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-/. 1 - c.*4921del - r.(?) p.(=) - benign g.5269586del g.5248356del HBG1(NM_000559.2):c.*3delT - HBG1_003003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-/. 1 - c.*4923A>T - r.(=) p.(=) - benign g.5269584T>A g.5248354T>A HBG1(NM_000559.2):c.*5A>T - HBG1_003002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-/. 1 - c.*4925dup - r.(?) p.(=) - benign g.5269582dup g.5248352dup HBG1(NM_000559.2):c.*6_*7insT - HBG1_003001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
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