ClinVar Miner

List of variants reported as pathogenic for Autosomal recessive nonsyndromic hearing loss 1A by Center of Genomic medicine, Geneva, University Hospital of Geneva

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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_004004.6(GJB2):c.139G>T (p.Glu47Ter)	rs104894398	0.00013
NM_004004.6(GJB2):c.35del (p.Gly12fs)	rs80338939

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