Full data view for gene CLVS2

Information The variants shown are described using the NM_001010852.2 transcript reference sequence.

40 entries on 1 page. Showing entries 1 - 40.
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Effect     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     

Template     

Technique     

Disease     

Reference     

Remarks     

Panel size     

Owner     
?/? c.-36G>A r.(=) p.(=) g.123318887G>A Copied from the Exome Variant Server CLVS2_000001 1/13006 0/8600 1/4406 - - - - - - -
?/? c.197T>G r.(?) p.(Phe66Cys) g.123319119T>G Copied from the Exome Variant Server CLVS2_000002 1/13006 0/8600 1/4406 - - - - - - -
?/? c.262A>C r.(?) p.(Ser88Arg) g.123319184A>C Copied from the Exome Variant Server CLVS2_000003 1/13006 0/8600 1/4406 - - - - - - -
?/? c.346_347insG r.(?) p.(Lys117Glufs*33) g.123319268_123319269insG Copied from the Exome Variant Server CLVS2_000004 34/12516 25/8254 9/4262 - - - - - - -
?/? c.375T>C r.(=) p.(=) g.123319297T>C Copied from the Exome Variant Server CLVS2_000005 1/12988 1/8584 0/4404 - - - - - - -
?/? c.390-48G>A r.(=) p.(=) g.123332082G>A Copied from the Exome Variant Server CLVS2_000006 1/13002 0/8598 1/4404 - - - - - - -
?/? c.390-9C>T r.(=) p.(=) g.123332121C>T Copied from the Exome Variant Server CLVS2_000007 1/13004 1/8598 0/4406 - - - - - - -
?/? c.390-8G>A r.(=) p.(=) g.123332122G>A Copied from the Exome Variant Server CLVS2_000008 3/13004 2/8598 1/4406 - - - - - - -
?/? c.390-6C>T r.(=) p.(=) g.123332124C>T Copied from the Exome Variant Server CLVS2_000009 9/13004 1/8598 8/4406 - - - - - - -
?/? c.462A>G r.(=) p.(=) g.123332202A>G Copied from the Exome Variant Server CLVS2_000010 1/13006 1/8600 0/4406 - - - - - - -
?/? c.514G>T r.(?) p.(Ala172Ser) g.123332254G>T Copied from the Exome Variant Server CLVS2_000011 1/13006 1/8600 0/4406 - - - - - - -
?/? c.533G>A r.(?) p.(Ser178Asn) g.123332273G>A Copied from the Exome Variant Server CLVS2_000012 31/13006 29/8600 2/4406 - - - - - - -
?/? c.564+6A>T r.(=) p.(=) g.123332310A>T Copied from the Exome Variant Server CLVS2_000013 3/13006 2/8600 1/4406 - - - - - - -
?/? c.564+42T>C r.(=) p.(=) g.123332346T>C Copied from the Exome Variant Server CLVS2_000014 1/13004 1/8598 0/4406 - - - - - - -
?/? c.565-43A>G r.(=) p.(=) g.123369724A>G Copied from the Exome Variant Server CLVS2_000015 5/13006 5/8600 0/4406 - - - - - - -
?/? c.579G>A r.(=) p.(=) g.123369781G>A Copied from the Exome Variant Server CLVS2_000016 2/13006 2/8600 0/4406 - - - - - - -
?/? c.636C>T r.(=) p.(=) g.123369838C>T Copied from the Exome Variant Server CLVS2_000017 4/13006 4/8600 0/4406 - - - - - - -
?/? c.637G>A r.(?) p.(Val213Met) g.123369839G>A Copied from the Exome Variant Server CLVS2_000018 1/13006 0/8600 1/4406 - - - - - - -
?/? c.668G>A r.(?) p.(Arg223Gln) g.123369870G>A Copied from the Exome Variant Server CLVS2_000019 1/13006 0/8600 1/4406 - - - - - - -
?/? c.675+5T>G r.spl? p.? g.123369882T>G Copied from the Exome Variant Server CLVS2_000020 1/13006 1/8600 0/4406 - - - - - - -
?/? c.675+21T>C r.(=) p.(=) g.123369898T>C Copied from the Exome Variant Server CLVS2_000021 2/13004 0/8598 2/4406 - - - - - - -
?/? c.675+26C>A r.(=) p.(=) g.123369903C>A Copied from the Exome Variant Server CLVS2_000022 1/13004 0/8598 1/4406 - - - - - - -
?/? c.675+33T>C r.(=) p.(=) g.123369910T>C Copied from the Exome Variant Server CLVS2_000023 11781/13004 7507/8598 4274/4406 - - - - - - -
?/? c.675+45A>G r.(=) p.(=) g.123369922A>G Copied from the Exome Variant Server CLVS2_000024 3/13000 0/8598 3/4402 - - - - - - -
?/? c.675+52A>G r.(=) p.(=) g.123369929A>G Copied from the Exome Variant Server CLVS2_000025 4/7262 0/4614 4/2648 - - - - - - -
?/? c.676-19C>T r.(=) p.(=) g.123376932C>T Copied from the Exome Variant Server CLVS2_000026 2/13006 1/8600 1/4406 - - - - - - -
?/? c.676-16C>A r.(=) p.(=) g.123376935C>A Copied from the Exome Variant Server CLVS2_000027 51/13006 49/8600 2/4406 - - - - - - -
?/? c.676-8A>G r.(=) p.(=) g.123376943A>G Copied from the Exome Variant Server CLVS2_000028 10/13006 10/8600 0/4406 - - - - - - -
?/? c.729G>C r.(?) p.(Glu243Asp) g.123377004G>C Copied from the Exome Variant Server CLVS2_000029 1/13006 1/8600 0/4406 - - - - - - -
?/? c.760C>T r.(?) p.(Pro254Ser) g.123377035C>T Copied from the Exome Variant Server CLVS2_000030 1/13006 1/8600 0/4406 - - - - - - -
?/? c.813C>T r.(=) p.(=) g.123377088C>T Copied from the Exome Variant Server CLVS2_000031 1/13006 1/8600 0/4406 - - - - - - -
?/? c.831T>C r.(=) p.(=) g.123377106T>C Copied from the Exome Variant Server CLVS2_000032 213/13006 0/8600 213/4406 - - - - - - -
?/? c.832G>A r.(?) p.(Val278Ile) g.123377107G>A Copied from the Exome Variant Server CLVS2_000033 1/13006 1/8600 0/4406 - - - - - - -
?/? c.838T>C r.(?) p.(Ser280Pro) g.123377113T>C Copied from the Exome Variant Server CLVS2_000034 1/13006 0/8600 1/4406 - - - - - - -
?/? c.897-41A>G r.(=) p.(=) g.123384778A>G Copied from the Exome Variant Server CLVS2_000035 1/13006 1/8600 0/4406 - - - - - - -
?/? c.903A>G r.(=) p.(=) g.123384825A>G Copied from the Exome Variant Server CLVS2_000036 1/13006 1/8600 0/4406 - - - - - - -
?/? c.922G>T r.(?) p.(Val308Leu) g.123384844G>T Copied from the Exome Variant Server CLVS2_000037 1/13006 1/8600 0/4406 - - - - - - -
?/? c.930A>G r.(=) p.(=) g.123384852A>G Copied from the Exome Variant Server CLVS2_000038 1/13006 0/8600 1/4406 - - - - - - -
?/? c.947A>G r.(?) p.(Glu316Gly) g.123384869A>G Copied from the Exome Variant Server CLVS2_000039 2/13006 1/8600 1/4406 - - - - - - -
?/? c.*22A>G r.(=) p.(=) g.123384928A>G Copied from the Exome Variant Server CLVS2_000040 1/13006 1/8600 0/4406 - - - - - - -
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