ClinVar Miner

List of variants reported as pathogenic for Autosomal recessive nonsyndromic hearing loss 1A by King Laboratory, University of Washington

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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_004004.6(GJB2):c.229T>C (p.Trp77Arg)	rs104894397	0.00011
NM_004004.6(GJB2):c.355GAG[1] (p.Glu120del)	rs80338947

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