ClinVar Miner

List of variants in gene GJB2 reported as pathogenic for GJB2-Related Disorders

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_004004.6(GJB2):c.109G>A (p.Val37Ile) rs72474224 0.00354
NM_004004.6(GJB2):c.167del (p.Leu56fs) rs80338942 0.00058
NM_004004.6(GJB2):c.250G>C (p.Val84Leu) rs104894409

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