ClinVar Miner

List of variants reported as likely pathogenic for Autosomal recessive nonsyndromic hearing loss 1A by Knight Diagnostic Laboratories, Oregon Health and Sciences University

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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_004004.6(GJB2):c.101T>C (p.Met34Thr)	rs35887622	0.00966
NM_004004.6(GJB2):c.416G>A (p.Ser139Asn)	rs76434661	0.00047

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