ClinVar Miner

List of variants studied for Autosomal recessive nonsyndromic hearing loss 1A by Lifecell International Pvt. Ltd

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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.71G>A (p.Trp24Ter) rs104894396 0.00002
NM_004004.6(GJB2):c.505T>C (p.Cys169Arg) rs760489970

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