ClinVar Miner

List of variants in gene PKD1 reported as pathogenic by GeneDx

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Total variants: 14
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HGVS dbSNP
NM_001009944.3(PKD1):c.12278_12279del (p.Leu4093fs) rs1555444648
NM_001009944.3(PKD1):c.12310_12313dup (p.Ile4105fs) rs1555444602
NM_001009944.3(PKD1):c.12712C>T (p.Gln4238Ter) rs1045675831
NM_001009944.3(PKD1):c.1687C>T (p.Gln563Ter) rs1064794207
NM_001009944.3(PKD1):c.1722+2T>C rs886041836
NM_001009944.3(PKD1):c.215+1G>C rs1555462433
NM_001009944.3(PKD1):c.6031C>T (p.Gln2011Ter) rs1555454739
NM_001009944.3(PKD1):c.6398dup (p.Val2134fs) rs1555454467
NM_001009944.3(PKD1):c.6549dup (p.Glu2184Ter) rs1555454373
NM_001009944.3(PKD1):c.6586C>T (p.Gln2196Ter) rs1567192286
NM_001009944.3(PKD1):c.6913C>T (p.Gln2305Ter) rs1064793762
NM_001009944.3(PKD1):c.8369del (p.Pro2790fs) rs1057518604
NM_001009944.3(PKD1):c.8898_8911dup (p.Ala2971fs) rs1555450672
NM_001009944.3(PKD1):c.9829C>T (p.Arg3277Cys) rs148812376

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