ClinVar Miner

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

Submission 1 (likely pathogenic) minimum review status: Submission 1 (likely pathogenic) method:
Submission 2 (uncertain significance) minimum review status: Submission 2 (uncertain significance) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 9
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HGVS dbSNP
NM_001009944.3(PKD1):c.12003+14_12003+33del rs1567148835
NM_001009944.3(PKD1):c.12465T>G (p.Phe4155Leu)
NM_001009944.3(PKD1):c.1831C>T (p.Arg611Trp) rs1555458413
NM_001009944.3(PKD1):c.2180T>C (p.Leu727Pro) rs1616940
NM_001009944.3(PKD1):c.3496G>A (p.Gly1166Ser) rs573566419
NM_001009944.3(PKD1):c.6643C>T (p.Arg2215Trp) rs752793757
NM_001009944.3(PKD1):c.7483T>A (p.Cys2495Ser)
NM_001009944.3(PKD1):c.8284_8295del (p.Ile2762_Arg2765del) rs1596527370
NM_001009944.3(PKD1):c.8293C>T (p.Arg2765Cys) rs144979397

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