ClinVar Miner

List of variants reported as likely benign for Autosomal recessive nonsyndromic hearing loss 1A by Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia

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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_004004.6(GJB2):c.*3C>A	rs111033460	0.00155
NM_004004.6(GJB2):c.249C>G (p.Phe83Leu)	rs111033218	0.00150

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