ClinVar Miner

List of variants studied for Autosomal recessive nonsyndromic hearing loss 1A by Deafness Molecular Diagnostic Center, Chinese PLA General Hospital

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_004004.6(GJB2):c.157T>A (p.Cys53Ser) rs1555341986
NM_004004.6(GJB2):c.232G>A (p.Ala78Thr) rs1959060696
NM_004004.6(GJB2):c.446C>A (p.Ala149Asp) rs2137307574

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