ClinVar Miner

List of variants reported as pathogenic for Autosomal recessive nonsyndromic hearing loss 104

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_004004.6(GJB2):c.-23+1G>A	rs80338940	0.00017
NM_001286445.3(RIPOR2):c.189-1G>A	rs875989828
NM_004004.6(GJB2):c.35del (p.Gly12fs)	rs80338939

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