ClinVar Miner

List of variants in gene GJB1 studied for not specified

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Total variants: 31
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HGVS dbSNP gnomAD frequency
NM_000166.6(GJB1):c.-17+116C>T rs111853447 0.02274
NM_000166.6(GJB1):c.-77G>A rs190676487 0.00500
NM_000166.6(GJB1):c.704T>G (p.Phe235Cys) rs104894825 0.00295
NM_000166.6(GJB1):c.235C>T (p.Leu79=) rs144717157 0.00186
NM_000166.6(GJB1):c.497T>G (p.Val166Gly) rs199626569 0.00109
NM_000166.6(GJB1):c.507C>T (p.Asp169=) rs373334326 0.00022
NM_000166.6(GJB1):c.30C>T (p.Leu10=) rs183702021 0.00018
NM_000166.6(GJB1):c.688C>T (p.Arg230Cys) rs587781246 0.00014
NM_000166.6(GJB1):c.-101C>T rs961829342 0.00008
NM_000166.6(GJB1):c.441C>T (p.Ala147=) rs765686240 0.00006
NM_000166.6(GJB1):c.677A>G (p.Asn226Ser) rs781312706 0.00004
NM_000166.6(GJB1):c.297A>G (p.Gln99=) rs1213746899 0.00003
NM_000166.6(GJB1):c.689G>T (p.Arg230Leu) rs780335726 0.00003
NM_000166.6(GJB1):c.78G>A (p.Ser26=) rs749174507 0.00003
NM_000166.6(GJB1):c.-27C>T rs879254157 0.00002
NM_000166.6(GJB1):c.699G>A (p.Ser233=) rs769112084 0.00002
NM_000166.6(GJB1):c.*15C>T rs1057520778
NM_000166.6(GJB1):c.148T>C (p.Ser50Pro) rs913934445
NM_000166.6(GJB1):c.271G>C (p.Val91Leu) rs756928158
NM_000166.6(GJB1):c.364_372del (p.Arg122_Lys124del) rs1555937156
NM_000166.6(GJB1):c.52A>G (p.Thr18Ala) rs1555937012
NM_000166.6(GJB1):c.533A>G (p.Asp178Gly) rs1555937224
NM_000166.6(GJB1):c.559A>G (p.Lys187Glu) rs1555937244
NM_000166.6(GJB1):c.563CCGTCTTCA[1] (p.188TVF[1]) rs116840823
NM_000166.6(GJB1):c.571A>T (p.Thr191Ser) rs1555937248
NM_000166.6(GJB1):c.574G>T (p.Val192Phe) rs771579861
NM_000166.6(GJB1):c.594T>A (p.Ser198=) rs768342461
NM_000166.6(GJB1):c.629T>A (p.Val210Glu) rs1555937274
NM_000166.6(GJB1):c.658C>G (p.Arg220Gly) rs104894814
NM_000166.6(GJB1):c.705C>A (p.Phe235Leu) rs760150310
NM_001097642.3(GJB1):c.-16-697G>A rs6525485

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