ClinVar Miner

List of variants in gene PKD1 reported as uncertain significance for Seizures; Hemivertebrae; Polycystic kidney dysplasia; Secundum atrial septal defect; Missing ribs; Dry skin; Abnormality of the nail; Abnormal cortical gyration; Hyperechogenic kidneys; Periventricular gray matter heterotopia; Plantar crease between first and second toes; Overlapping fingers

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 1
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HGVS dbSNP
NM_001009944.3(PKD1):c.226C>T (p.His76Tyr) rs932577597

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