ClinVar Miner

List of variants in gene GJB2 reported as uncertain significance by Counsyl

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Total variants: 44
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HGVS dbSNP
NM_004004.5(GJB2):c.-259C>T rs1417111166
NM_004004.5(GJB2):c.-260C>T rs886037626
NM_004004.6(GJB2):c.*1C>T rs111033327
NM_004004.6(GJB2):c.-22-1G>A rs551625098
NM_004004.6(GJB2):c.-22-2A>G rs201895089
NM_004004.6(GJB2):c.-7G>A rs398123813
NM_004004.6(GJB2):c.133G>A (p.Gly45Arg) rs1326514987
NM_004004.6(GJB2):c.146C>T (p.Ala49Val) rs1057517976
NM_004004.6(GJB2):c.154G>C (p.Val52Leu) rs1555341987
NM_004004.6(GJB2):c.157T>C (p.Cys53Arg) rs1555341986
NM_004004.6(GJB2):c.187G>T (p.Val63Leu) rs370696868
NM_004004.6(GJB2):c.212T>C (p.Ile71Thr) rs1373154561
NM_004004.6(GJB2):c.236T>C (p.Leu79Pro) rs1555341957
NM_004004.6(GJB2):c.241C>G (p.Leu81Val) rs145216882
NM_004004.6(GJB2):c.24G>A (p.Thr8=) rs533231493
NM_004004.6(GJB2):c.257C>T (p.Thr86Met) rs1291519904
NM_004004.6(GJB2):c.263C>G (p.Ala88Gly) rs1555341945
NM_004004.6(GJB2):c.278T>C (p.Met93Thr) rs1461894310
NM_004004.6(GJB2):c.301_303del (p.Glu101del) rs1555341937
NM_004004.6(GJB2):c.318C>A (p.Phe106Leu) rs779358271
NM_004004.6(GJB2):c.331A>G (p.Ile111Val) rs1003660637
NM_004004.6(GJB2):c.339T>G (p.Ser113Arg) rs80338946
NM_004004.6(GJB2):c.358G>A (p.Glu120Lys) rs528216023
NM_004004.6(GJB2):c.35G>A (p.Gly12Asp) rs1801002
NM_004004.6(GJB2):c.380G>T (p.Arg127Leu) rs111033196
NM_004004.6(GJB2):c.415A>T (p.Ser139Cys) rs1555341907
NM_004004.6(GJB2):c.445G>A (p.Ala149Thr) rs111033225
NM_004004.6(GJB2):c.445_486del (p.Ala149_Ser162del) rs1555341874
NM_004004.6(GJB2):c.475G>A (p.Asp159Asn) rs373684994
NM_004004.6(GJB2):c.476A>T (p.Asp159Val) rs28931592
NM_004004.6(GJB2):c.478G>A (p.Gly160Ser) rs34988750
NM_004004.6(GJB2):c.493C>T (p.Arg165Trp) rs376898963
NM_004004.6(GJB2):c.499G>A (p.Val167Met) rs111033360
NM_004004.6(GJB2):c.511G>A (p.Ala171Thr) rs201004645
NM_004004.6(GJB2):c.514T>A (p.Trp172Arg) rs770330002
NM_004004.6(GJB2):c.535G>C (p.Asp179His) rs28931595
NM_004004.6(GJB2):c.571T>C (p.Phe191Leu) rs397516878
NM_004004.6(GJB2):c.60T>G (p.Ile20Met) rs749693224
NM_004004.6(GJB2):c.663G>C (p.Lys221Asn) rs375599392
NM_004004.6(GJB2):c.665C>A (p.Ser222Ter) rs766975999
NM_004004.6(GJB2):c.670A>C (p.Lys224Gln) rs111033194
NM_004004.6(GJB2):c.674C>T (p.Pro225Leu) rs1555341782
NM_004004.6(GJB2):c.677T>G (p.Val226Gly) rs773846324
NM_004004.6(GJB2):c.88A>G (p.Ile30Val) rs374625633

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