ClinVar Miner

List of variants studied for Autosomal recessive nonsyndromic hearing loss 1A by Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics

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Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_004004.6(GJB2):c.-23+1G>A rs80338940 0.00017
NM_004004.6(GJB2):c.231G>A (p.Trp77Ter) rs80338944

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