ClinVar Miner

List of variants in gene PKD1 reported as pathogenic by Fulgent Genetics,Fulgent Genetics

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Total variants: 6
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HGVS dbSNP
NM_001009944.3(PKD1):c.12031C>T (p.Gln4011Ter) rs1555444985
NM_001009944.3(PKD1):c.2534T>C (p.Leu845Ser) rs199476100
NM_001009944.3(PKD1):c.6031C>T (p.Gln2011Ter) rs1555454739
NM_001009944.3(PKD1):c.7288C>T (p.Arg2430Ter)
NM_001009944.3(PKD1):c.7327G>T (p.Gly2443Ter) rs1567186165
NM_001009944.3(PKD1):c.8311G>A (p.Glu2771Lys) rs1057518897

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