ClinVar Miner

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

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Total variants: 3
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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.139G>T (p.Glu47Ter) rs104894398 0.00013
NM_004004.6(GJB2):c.35del (p.Gly12fs) rs80338939

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