ClinVar Miner

List of variants in gene GJB2 reported by OMIM

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Total variants: 42
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HGVS dbSNP
NM_004004.5(GJB2):c.-260C>T rs886037626
NM_004004.5(GJB2):c.131G>A (p.Trp44Ter) rs104894413
NM_004004.5(GJB2):c.131G>C (p.Trp44Ser) rs104894413
NM_004004.5(GJB2):c.132G>C (p.Trp44Cys) rs104894407
NM_004004.5(GJB2):c.134G>A (p.Gly45Glu) rs72561723
NM_004004.5(GJB2):c.139G>T (p.Glu47Ter) rs104894398
NM_004004.5(GJB2):c.148G>A (p.Asp50Asn) rs28931594
NM_004004.5(GJB2):c.148G>T (p.Asp50Tyr) rs28931594
NM_004004.5(GJB2):c.162C>A (p.Asn54Lys) rs104894412
NM_004004.5(GJB2):c.167delT (p.Leu56Argfs) rs80338942
NM_004004.5(GJB2):c.175G>A (p.Gly59Ser) rs104894410
NM_004004.5(GJB2):c.176G>C (p.Gly59Ala) rs104894404
NM_004004.5(GJB2):c.193T>C (p.Tyr65His) rs886037849
NM_004004.5(GJB2):c.196G>C (p.Asp66His) rs104894403
NM_004004.5(GJB2):c.218A>G (p.His73Arg) rs121912968
NM_004004.5(GJB2):c.223C>T (p.Arg75Trp) rs104894402
NM_004004.5(GJB2):c.224G>A (p.Arg75Gln) rs28931593
NM_004004.5(GJB2):c.229T>C (p.Trp77Arg) rs104894397
NM_004004.5(GJB2):c.231G>A (p.Trp77Ter) rs80338944
NM_004004.5(GJB2):c.235delC (p.Leu79Cysfs) rs80338943
NM_004004.5(GJB2):c.250G>A (p.Val84Met) rs104894409
NM_004004.5(GJB2):c.250G>C (p.Val84Leu) rs104894409
NM_004004.5(GJB2):c.269T>C (p.Leu90Pro) rs80338945
NM_004004.5(GJB2):c.313_326delAAGTTCATCAAGGG (p.Lys105Glyfs) rs111033253
NM_004004.5(GJB2):c.34G>C (p.Gly12Arg) rs104894408
NM_004004.5(GJB2):c.358_360delGAG (p.Glu120del) rs80338947
NM_004004.5(GJB2):c.35delG (p.Gly12Valfs) rs80338939
NM_004004.5(GJB2):c.476A>T (p.Asp159Val) rs28931592
NM_004004.5(GJB2):c.50C>T (p.Ser17Phe) rs28929485
NM_004004.5(GJB2):c.51_62delCACCAGCATTGGinsA (p.Thr18Lysfs) rs886037624
NM_004004.5(GJB2):c.535G>A (p.Asp179Asn) rs28931595
NM_004004.5(GJB2):c.551G>A (p.Arg184Gln) rs80338950
NM_004004.5(GJB2):c.551G>C (p.Arg184Pro) rs80338950
NM_004004.5(GJB2):c.605G>T (p.Cys202Phe) rs104894406
NM_004004.5(GJB2):c.[134G>A;408C>A]
NM_004004.6(GJB2):c.-23+1G>A rs80338940
NM_004004.6(GJB2):c.101T>C (p.Met34Thr) rs35887622
NM_004004.6(GJB2):c.109G>A (p.Val37Ile) rs72474224
NM_004004.6(GJB2):c.280_284dup (p.Ala96Thrfs) rs886037625
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.71G>A (p.Trp24Ter) rs104894396

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