ClinVar Miner

List of variants in gene PKD1 reported as likely pathogenic by GeneDx

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Total variants: 6
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HGVS dbSNP
NM_001009944.3(PKD1):c.10420C>T (p.Gln3474Ter) rs1064794206
NM_001009944.3(PKD1):c.1259A>G (p.Tyr420Cys) rs755878230
NM_001009944.3(PKD1):c.1523G>T (p.Cys508Phe) rs1057518001
NM_001009944.3(PKD1):c.6394_6396TTC[1] (p.Phe2133del) rs1555454460
NM_001009944.3(PKD1):c.9398-1G>A rs1555449642
NM_001009944.3(PKD1):c.9898G>A (p.Gly3300Arg) rs777024498

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