ClinVar Miner

List of variants studied for Hearing loss, autosomal dominant 74

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Total variants: 14
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HGVS dbSNP gnomAD frequency
NM_001191057.4(PDE1C):c.1773C>T (p.Asn591=) rs1860790 0.96972
NM_001191057.4(PDE1C):c.1203+28A>G rs2270218 0.75344
NM_001322059.2(PDE1C):c.471G>A (p.Glu157=) rs977626 0.43760
NM_001191057.4(PDE1C):c.1782C>T (p.Ala594=) rs2302450 0.23084
NM_001191057.4(PDE1C):c.1830T>C (p.Gly610=) rs3213709 0.19854
NM_001191057.4(PDE1C):c.525C>T (p.Ser175=) rs76290787 0.00897
NM_001191057.4(PDE1C):c.778G>T (p.Ala260Ser) rs775633137 0.00004
NM_001191057.4(PDE1C):c.1071G>T (p.Gln357His)
NM_001191057.4(PDE1C):c.1083-7T>C
NM_001191057.4(PDE1C):c.134G>A (p.Arg45Gln)
NM_001191057.4(PDE1C):c.1900C>T (p.Gln634Ter)
NM_001191057.4(PDE1C):c.2061C>A (p.Tyr687Ter)
NM_001191057.4(PDE1C):c.376C>G (p.Arg126Gly)
NM_001322059.2(PDE1C):c.206A>T (p.His69Leu)

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