ClinVar Miner

List of variants studied for hearing loss, autosomal dominant 76

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Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_001145319.2(PLS1):c.1256+18C>T rs6789958 0.71322
NM_001145319.2(PLS1):c.1128G>A (p.Pro376=) rs6793735 0.70582
NM_001145319.2(PLS1):c.1087C>T (p.Leu363Phe) rs1560070780
NM_001145319.2(PLS1):c.1295A>T (p.Glu432Val)
NM_001145319.2(PLS1):c.1658T>A (p.Val553Asp) rs1283780796
NM_001145319.2(PLS1):c.383T>C (p.Phe128Ser) rs1577876794
NM_001145319.2(PLS1):c.544A>G (p.Ile182Val)
NM_001145319.2(PLS1):c.557dup (p.Leu187fs)
NM_001145319.2(PLS1):c.713T>G (p.Leu238Arg) rs1577888561
NM_001145319.2(PLS1):c.805G>A (p.Glu269Lys) rs1577888985

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