ClinVar Miner

List of variants in gene PDE1C studied for auditory system disorder

Included ClinVar conditions (325):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 8
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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)

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