ClinVar Miner

List of variants studied for Autosomal recessive nonsyndromic hearing loss 1A by Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center

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Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_004004.6(GJB2):c.269T>C (p.Leu90Pro) rs80338945 0.00066
NM_004004.6(GJB2):c.-23+1G>A rs80338940 0.00017
NM_004004.6(GJB2):c.551G>C (p.Arg184Pro) rs80338950 0.00003
NM_004004.6(GJB2):c.506G>A (p.Cys169Tyr) rs774518779 0.00001
NM_004004.6(GJB2):c.35del (p.Gly12fs) rs80338939

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