ClinVar Miner

List of variants studied for Autosomal recessive nonsyndromic hearing loss 18A by Laboratory of Prof. Karen Avraham, Tel Aviv University

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_153676.4(USH1C):c.403G>A (p.Val135Ile) rs145013633 0.00234
NM_173477.5(USH1G):c.955A>G (p.Arg319Gly) rs780717575 0.00007
NM_153676.4(USH1C):c.38T>C (p.Val13Ala)

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