ClinVar Miner

Variants in gene PKD1 with conflicting interpretations "uncertain significance" and "pathogenic"

Submission 1 (uncertain significance) minimum review status: Submission 1 (uncertain significance) method:
Submission 2 (pathogenic) minimum review status: Submission 2 (pathogenic) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 4
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NM_001009944.3(PKD1):c.12465T>G (p.Phe4155Leu)
NM_001009944.3(PKD1):c.8447T>C (p.Leu2816Pro) rs1567177684
NM_001009944.3(PKD1):c.971G>T (p.Arg324Leu) rs199476099
NM_001009944.3(PKD1):c.974A>G (p.Tyr325Cys) rs1232180956

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