ClinVar Miner

List of variants in gene PKHD1 reported as pathogenic for Polycystic kidney disease; Renal cyst; Ventricular hypertrophy

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 1
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HGVS dbSNP gnomAD frequency
NM_138694.4(PKHD1):c.2810G>A (p.Trp937Ter) rs786204707

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