ClinVar Miner

List of variants in gene GJB6 reported as uncertain significance by GeneDx

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Total variants: 31
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HGVS dbSNP gnomAD frequency
NM_001110219.3(GJB6):c.781A>G (p.Ser261Gly) rs143962007 0.00014
NM_001110219.3(GJB6):c.631T>G (p.Cys211Gly) rs141752846 0.00009
NM_001110219.3(GJB6):c.518C>T (p.Pro173Leu) rs200480676 0.00006
NM_001110219.3(GJB6):c.1A>G (p.Met1Val) rs776848994 0.00004
NM_001110219.3(GJB6):c.209C>T (p.Pro70Leu) rs727505123 0.00004
NM_001110219.3(GJB6):c.323G>A (p.Arg108Gln) rs771412904 0.00004
NM_001110219.3(GJB6):c.228del (p.Trp77fs) rs751484173 0.00003
NM_001110219.3(GJB6):c.311G>A (p.Arg104His) rs549918398 0.00003
NM_001110219.3(GJB6):c.371A>G (p.Gln124Arg) rs760079142 0.00002
NM_001110219.3(GJB6):c.179G>T (p.Cys60Phe) rs750540794 0.00001
NM_001110219.3(GJB6):c.215C>T (p.Ser72Phe) rs763435578 0.00001
NM_001110219.3(GJB6):c.349G>C (p.Asp117His) rs757539461 0.00001
NM_001110219.3(GJB6):c.593C>T (p.Ala198Val) rs200881320 0.00001
NM_001110219.3(GJB6):c.61G>A (p.Gly21Arg) rs751440971 0.00001
NM_001110219.3(GJB6):c.766A>G (p.Ile256Val) rs149845267 0.00001
NM_001110219.3(GJB6):c.95G>A (p.Arg32Gln) rs766604251 0.00001
NM_001110219.3(GJB6):c.250G>A (p.Val84Ile)
NM_001110219.3(GJB6):c.257C>A (p.Thr86Asn) rs1593363461
NM_001110219.3(GJB6):c.407_434del (p.Tyr136fs) rs1566538404
NM_001110219.3(GJB6):c.416G>A (p.Ser139Asn)
NM_001110219.3(GJB6):c.466T>G (p.Phe156Val) rs1555343516
NM_001110219.3(GJB6):c.478G>A (p.Gly160Arg)
NM_001110219.3(GJB6):c.516C>A (p.Asp172Glu) rs150583213
NM_001110219.3(GJB6):c.529C>G (p.Leu177Val) rs745637886
NM_001110219.3(GJB6):c.568G>T (p.Val190Leu) rs144174802
NM_001110219.3(GJB6):c.585G>A (p.Met195Ile) rs767980664
NM_001110219.3(GJB6):c.60_61delinsT (p.Lys22fs) rs397517206
NM_001110219.3(GJB6):c.63del (p.Lys22fs) rs770612890
NM_001110219.3(GJB6):c.701A>G (p.His234Arg) rs758984964
NM_001110219.3(GJB6):c.704_714delinsA (p.Ala235fs)
NM_001110219.3(GJB6):c.716G>A (p.Ser239Asn) rs2137331138

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