ClinVar Miner

List of variants in gene GJB2 reported as pathogenic by Invitae

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Total variants: 63
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HGVS dbSNP
NM_004004.6(GJB2):c.-23+1G>A rs80338940
NM_004004.6(GJB2):c.109G>A (p.Val37Ile) rs72474224
NM_004004.6(GJB2):c.131G>A (p.Trp44Ter) rs104894413
NM_004004.6(GJB2):c.132G>A (p.Trp44Ter) rs104894407
NM_004004.6(GJB2):c.139G>T (p.Glu47Ter) rs104894398
NM_004004.6(GJB2):c.148G>A (p.Asp50Asn) rs28931594
NM_004004.6(GJB2):c.167del (p.Leu56fs) rs80338942
NM_004004.6(GJB2):c.169C>T (p.Gln57Ter) rs111033297
NM_004004.6(GJB2):c.176_191del (p.Gly59fs) rs750188782
NM_004004.6(GJB2):c.195C>G (p.Tyr65Ter) rs763572195
NM_004004.6(GJB2):c.19C>T (p.Gln7Ter) rs111033451
NM_004004.6(GJB2):c.1A>G (p.Met1Val) rs111033293
NM_004004.6(GJB2):c.200dup (p.His67fs)
NM_004004.6(GJB2):c.229T>C (p.Trp77Arg) rs104894397
NM_004004.6(GJB2):c.230G>A (p.Trp77Ter) rs104894395
NM_004004.6(GJB2):c.231G>A (p.Trp77Ter) rs80338944
NM_004004.6(GJB2):c.235del (p.Leu79fs) rs80338943
NM_004004.6(GJB2):c.238C>T (p.Gln80Ter) rs199883710
NM_004004.6(GJB2):c.239A>C (p.Gln80Pro) rs727504302
NM_004004.6(GJB2):c.239dup (p.Leu81fs) rs1555341954
NM_004004.6(GJB2):c.246C>G (p.Ile82Met) rs781534323
NM_004004.6(GJB2):c.250G>C (p.Val84Leu) rs104894409
NM_004004.6(GJB2):c.250G>T (p.Val84Leu) rs104894409
NM_004004.6(GJB2):c.268del (p.Leu89_Leu90insTer)
NM_004004.6(GJB2):c.269T>C (p.Leu90Pro) rs80338945
NM_004004.6(GJB2):c.269dup (p.Val91fs) rs730880338
NM_004004.6(GJB2):c.283G>A (p.Val95Met) rs111033299
NM_004004.6(GJB2):c.290dup (p.Tyr97Ter) rs786204491
NM_004004.6(GJB2):c.298C>T (p.His100Tyr) rs143343083
NM_004004.6(GJB2):c.298del (p.His100fs) rs775828835
NM_004004.6(GJB2):c.299_300del (p.His100fs) rs111033204
NM_004004.6(GJB2):c.313_326del (p.Lys105fs) rs111033253
NM_004004.6(GJB2):c.32_45del (p.Gly11fs) rs1290698257
NM_004004.6(GJB2):c.334_335del (p.Lys112fs) rs756484720
NM_004004.6(GJB2):c.355GAG[1] (p.Glu120del) rs80338947
NM_004004.6(GJB2):c.35G>T (p.Gly12Val) rs1801002
NM_004004.6(GJB2):c.35del (p.Gly12fs) rs80338939
NM_004004.6(GJB2):c.35dup (p.Val13fs) rs80338939
NM_004004.6(GJB2):c.370C>T (p.Gln124Ter) rs397516874
NM_004004.6(GJB2):c.385G>T (p.Glu129Ter) rs397516875
NM_004004.6(GJB2):c.416G>A (p.Ser139Asn) rs76434661
NM_004004.6(GJB2):c.41dup (p.Asn14fs)
NM_004004.6(GJB2):c.427C>T (p.Arg143Trp) rs80338948
NM_004004.6(GJB2):c.428G>A (p.Arg143Gln) rs104894401
NM_004004.6(GJB2):c.44A>C (p.Lys15Thr) rs111033217
NM_004004.6(GJB2):c.456C>A (p.Tyr152Ter) rs111033420
NM_004004.6(GJB2):c.508_511dup (p.Ala171fs) rs773528125
NM_004004.6(GJB2):c.516G>A (p.Trp172Ter)
NM_004004.6(GJB2):c.523_533del (p.Pro175fs) rs876657693
NM_004004.6(GJB2):c.533T>C (p.Val178Ala) rs568612627
NM_004004.6(GJB2):c.53_63del (p.Thr18fs)
NM_004004.6(GJB2):c.550C>T (p.Arg184Trp) rs998045226
NM_004004.6(GJB2):c.551G>C (p.Arg184Pro) rs80338950
NM_004004.6(GJB2):c.560_605dup (p.Cys202Ter) rs1566528185
NM_004004.6(GJB2):c.576del (p.Val193fs) rs747847191
NM_004004.6(GJB2):c.59T>C (p.Ile20Thr) rs1057517519
NM_004004.6(GJB2):c.617A>G (p.Asn206Ser) rs111033294
NM_004004.6(GJB2):c.632_633del (p.Cys211fs) rs587783646
NM_004004.6(GJB2):c.647_650del (p.Arg216fs) rs587783647
NM_004004.6(GJB2):c.71G>A (p.Trp24Ter) rs104894396
NM_004004.6(GJB2):c.94C>T (p.Arg32Cys) rs371024165
NM_004004.6(GJB2):c.95G>A (p.Arg32His) rs111033190
NM_004004.6(GJB2):c.95G>T (p.Arg32Leu) rs111033190

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