ClinVar Miner

List of variants studied for familial cystic renal disease by Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center

Included ClinVar conditions (42):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_001009944.3(PKD1):c.11675G>A (p.Arg3892His) rs748887038 0.00040
NM_001009944.3(PKD1):c.8311G>A (p.Glu2771Lys) rs1057518897 0.00001
NM_001009944.3(PKD1):c.1849G>T (p.Gly617Trp)

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