ClinVar Miner

List of variants studied for Autosomal dominant keratitis-ichthyosis-hearing loss syndrome by FAHD UNIT, Department of Genetics, King Faisal Specialist Hospital and Research Centre

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Total variants: 1
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HGVS dbSNP gnomAD frequency
NM_004004.6(GJB2):c.244A>G (p.Ile82Val) rs1566528711

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