ClinVar Miner

List of variants studied for autosomal recessive nonsyndromic hearing loss 16 by Center of Genomic medicine, Geneva, University Hospital of Geneva

Included ClinVar conditions (2):
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Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_153700.2(STRC):c.4425G>C (p.Trp1475Cys) rs727503443 0.00001
NM_153700.2(STRC):c.4837G>T (p.Glu1613Ter) rs769443188 0.00001
NC_000015.9:g.(43851199_43890333)_(43897676_43924279)del
NC_000015.9:g.(43851199_43890333)_(43940820_44038794)del
NC_000015.9:g.(43851199_43890391)_(?_44038820)del
NM_153700.2(STRC):c.4917_4918delinsCT (p.Leu1640Phe) rs727503441

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