ClinVar Miner

List of variants in gene GJB2 reported as pathogenic by Fulgent Genetics

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Total variants: 15
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HGVS dbSNP
NM_004004.5(GJB2):c.131G>A (p.Trp44Ter) rs104894413
NM_004004.5(GJB2):c.139G>T (p.Glu47Ter) rs104894398
NM_004004.5(GJB2):c.1A>G (p.Met1Val) rs111033293
NM_004004.5(GJB2):c.231G>A (p.Trp77Ter) rs80338944
NM_004004.5(GJB2):c.269T>C (p.Leu90Pro) rs80338945
NM_004004.5(GJB2):c.283G>A (p.Val95Met) rs111033299
NM_004004.5(GJB2):c.379C>T (p.Arg127Cys) rs727503066
NM_004004.5(GJB2):c.416G>A (p.Ser139Asn) rs76434661
NM_004004.5(GJB2):c.506G>A (p.Cys169Tyr) rs774518779
NM_004004.5(GJB2):c.551G>C (p.Arg184Pro) rs80338950
NM_004004.5(GJB2):c.617A>G (p.Asn206Ser) rs111033294
NM_004004.5(GJB2):c.94C>A (p.Arg32Ser) rs371024165
NM_004004.6(GJB2):c.-23+1G>A rs80338940
NM_004004.6(GJB2):c.427C>T (p.Arg143Trp) rs80338948
NM_004004.6(GJB2):c.71G>A (p.Trp24Ter) rs104894396

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