ClinVar Miner

List of variants in gene GJB2 reported as pathogenic for Nonsyndromic hearing loss and deafness

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Total variants: 40
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HGVS dbSNP
NM_004004.5(GJB2):c.139G>T (p.Glu47Ter) rs104894398
NM_004004.5(GJB2):c.167delT (p.Leu56Argfs) rs80338942
NM_004004.5(GJB2):c.169C>T (p.Gln57Ter) rs111033297
NM_004004.5(GJB2):c.1A>G (p.Met1Val) rs111033293
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.230G>A (p.Trp77Ter) rs104894395
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.269dupT (p.Val91Serfs) rs730880338
NM_004004.5(GJB2):c.283G>A (p.Val95Met) rs111033299
NM_004004.5(GJB2):c.298C>T (p.His100Tyr) rs143343083
NM_004004.5(GJB2):c.299_300delAT (p.His100Argfs) rs111033204
NM_004004.5(GJB2):c.313_326delAAGTTCATCAAGGG (p.Lys105Glyfs) rs111033253
NM_004004.5(GJB2):c.31_68del38 (p.Gly11Leufs) rs397516873
NM_004004.5(GJB2):c.334_335delAA (p.Lys112Glufs) rs756484720
NM_004004.5(GJB2):c.358_360delGAG (p.Glu120del) rs80338947
NM_004004.5(GJB2):c.35delG (p.Gly12Valfs) rs80338939
NM_004004.5(GJB2):c.416G>A (p.Ser139Asn) rs76434661
NM_004004.5(GJB2):c.426C>A (p.Phe142Leu) rs397516877
NM_004004.5(GJB2):c.44A>C (p.Lys15Thr) rs111033217
NM_004004.5(GJB2):c.523_533delCCCAACACTGT (p.Pro175Glyfs) rs876657693
NM_004004.5(GJB2):c.551G>C (p.Arg184Pro) rs80338950
NM_004004.5(GJB2):c.564_565delGA (p.Lys188Asnfs) rs770116143
NM_004004.5(GJB2):c.592_600delGTGTCTGGAinsCAGTGTTCATGACATTC (p.Val198Glnfs) rs111033335
NM_004004.5(GJB2):c.596C>T (p.Ser199Phe) rs771748289
NM_004004.5(GJB2):c.617A>G (p.Asn206Ser) rs111033294
NM_004004.5(GJB2):c.94C>T (p.Arg32Cys) rs371024165
NM_004004.5(GJB2):c.95G>A (p.Arg32His) rs111033190
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.35dup (p.Val13Cysfs) rs80338939
NM_004004.6(GJB2):c.370C>T (p.Gln124Ter) rs397516874
NM_004004.6(GJB2):c.427C>T (p.Arg143Trp) rs80338948
NM_004004.6(GJB2):c.71G>A (p.Trp24Ter) rs104894396

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