ClinVar Miner

List of variants in gene GJB1 reported by Athena Diagnostics Inc

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Gene type:
ClinVar version:
Total variants: 83
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HGVS dbSNP gnomAD frequency
NM_000166.6(GJB1):c.-77G>A rs190676487 0.00500
NM_000166.6(GJB1):c.497T>G (p.Val166Gly) rs199626569 0.00109
NM_000166.6(GJB1):c.-6G>A rs201344743 0.00043
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.-101C>T rs961829342 0.00008
NM_000166.6(GJB1):c.671G>A (p.Arg224His) rs201697702 0.00006
NM_000166.6(GJB1):c.319C>T (p.Arg107Trp) rs863224973 0.00005
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.830G>A (p.Ser277Asn) rs748095080 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.305A>G (p.Glu102Gly) rs779696968 0.00001
NM_000166.6(GJB1):c.490C>T (p.Arg164Trp) rs139643362 0.00001
NM_000166.6(GJB1):c.793C>T (p.Arg265Cys) rs1324941945 0.00001
NM_000166.6(GJB1):c.-103C>T rs863224971
NM_000166.6(GJB1):c.-17+10C>A rs2092541241
NM_000166.6(GJB1):c.-17G>A rs879254047
NM_000166.6(GJB1):c.-45G>T
NM_000166.6(GJB1):c.109G>T (p.Val37Leu) rs1057518946
NM_000166.6(GJB1):c.112G>A (p.Val38Met) rs879254012
NM_000166.6(GJB1):c.118G>A (p.Ala40Thr) rs1602348782
NM_000166.6(GJB1):c.147T>C (p.Ser49=) rs2092542885
NM_000166.6(GJB1):c.148T>C (p.Ser50Pro) rs913934445
NM_000166.6(GJB1):c.149C>G (p.Ser50Cys) rs2092542910
NM_000166.6(GJB1):c.151T>C (p.Phe51Leu) rs876661269
NM_000166.6(GJB1):c.164C>T (p.Thr55Ile) rs104894824
NM_000166.6(GJB1):c.175G>C (p.Gly59Arg) rs1555937077
NM_000166.6(GJB1):c.176G>A (p.Gly59Asp)
NM_000166.6(GJB1):c.187G>A (p.Val63Ile) rs116840818
NM_000166.6(GJB1):c.192C>G (p.Cys64Trp) rs2147945443
NM_000166.6(GJB1):c.194A>G (p.Tyr65Cys) rs104894819
NM_000166.6(GJB1):c.223C>T (p.Arg75Trp) rs116840819
NM_000166.6(GJB1):c.224G>A (p.Arg75Gln) rs863224972
NM_000166.6(GJB1):c.235del (p.Leu79fs) rs2147945607
NM_000166.6(GJB1):c.239A>G (p.Gln80Arg) rs879254097
NM_000166.6(GJB1):c.266T>C (p.Leu89Pro) rs1555937122
NM_000166.6(GJB1):c.268C>A (p.Leu90Ile) rs1299325261
NM_000166.6(GJB1):c.26T>C (p.Leu9Ser) rs1569214971
NM_000166.6(GJB1):c.271G>C (p.Val91Leu) rs756928158
NM_000166.6(GJB1):c.283G>A (p.Val95Met) rs104894821
NM_000166.6(GJB1):c.299A>T (p.His100Leu) rs1602349133
NM_000166.6(GJB1):c.319del (p.Arg107fs) rs1569215212
NM_000166.6(GJB1):c.364_372del (p.Arg122_Lys124del) rs1555937156
NM_000166.6(GJB1):c.386G>A (p.Gly129Glu) rs1602349280
NM_000166.6(GJB1):c.389C>T (p.Thr130Ile) rs1602349283
NM_000166.6(GJB1):c.43C>T (p.Arg15Trp) rs116840815
NM_000166.6(GJB1):c.44G>A (p.Arg15Gln) rs863224974
NM_000166.6(GJB1):c.44G>C (p.Arg15Pro)
NM_000166.6(GJB1):c.462T>A (p.Tyr154Ter)
NM_000166.6(GJB1):c.467T>G (p.Leu156Arg) rs104894818
NM_000166.6(GJB1):c.478T>C (p.Tyr160His) rs1555937197
NM_000166.6(GJB1):c.479A>G (p.Tyr160Cys) rs1602349451
NM_000166.6(GJB1):c.524dup (p.Asn175fs) rs1569215346
NM_000166.6(GJB1):c.533A>G (p.Asp178Gly) rs1555937224
NM_000166.6(GJB1):c.540C>G (p.Phe180Leu) rs771022595
NM_000166.6(GJB1):c.541G>A (p.Val181Met) rs879253909
NM_000166.6(GJB1):c.541G>C (p.Val181Leu) rs879253909
NM_000166.6(GJB1):c.547C>T (p.Arg183Cys) rs863224471
NM_000166.6(GJB1):c.548G>A (p.Arg183His) rs1555937233
NM_000166.6(GJB1):c.556G>A (p.Glu186Lys) rs116840821
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.592T>C (p.Ser198Pro) rs1555937259
NM_000166.6(GJB1):c.602del (p.Cys201fs) rs1569215424
NM_000166.6(GJB1):c.614A>G (p.Asn205Ser) rs104894822
NM_000166.6(GJB1):c.617T>G (p.Val206Gly) rs1569215431
NM_000166.6(GJB1):c.622G>A (p.Glu208Lys) rs1555937270
NM_000166.6(GJB1):c.629T>A (p.Val210Glu) rs1555937274
NM_000166.6(GJB1):c.643C>T (p.Arg215Trp) rs879254099
NM_000166.6(GJB1):c.64C>T (p.Arg22Ter) rs1555937020
NM_000166.6(GJB1):c.658C>T (p.Arg220Ter) rs104894814
NM_000166.6(GJB1):c.65G>A (p.Arg22Gln) rs1060501002
NM_000166.6(GJB1):c.713G>T (p.Arg238Leu) rs776206757
NM_000166.6(GJB1):c.77C>T (p.Ser26Leu) rs587777876
NM_000166.6(GJB1):c.7T>C (p.Trp3Arg) rs1602348537
NM_000166.6(GJB1):c.807_808del (p.Ala271fs) rs1602350012
NM_000166.6(GJB1):c.842dup (p.Ala282fs) rs1569215591
NM_000166.6(GJB1):c.843_846del (p.Cys283fs) rs1602350059

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