ClinVar Miner

List of variants reported as uncertain significance for hearing loss, autosomal dominant 76

Included ClinVar conditions (1):

Hearing loss, autosomal dominant 76

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Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_001145319.2(PLS1):c.1295A>T (p.Glu432Val)
NM_001145319.2(PLS1):c.1658T>A (p.Val553Asp)	rs1283780796
NM_001145319.2(PLS1):c.544A>G (p.Ile182Val)
NM_001145319.2(PLS1):c.557dup (p.Leu187fs)

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