ClinVar Miner

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

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Gene type:
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Total variants: 17
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HGVS dbSNP
NM_001009944.3(PKD1):c.10420C>T (p.Gln3474Ter) rs1064794206
NM_001009944.3(PKD1):c.12010C>T (p.Gln4004Ter) rs766551411
NM_001009944.3(PKD1):c.12061C>T (p.Arg4021Ter)
NM_001009944.3(PKD1):c.12682C>T (p.Arg4228Ter) rs199476095
NM_001009944.3(PKD1):c.12691C>T (p.Gln4231Ter)
NM_001009944.3(PKD1):c.2085dup (p.Ala696fs) rs1567212531
NM_001009944.3(PKD1):c.2180T>C (p.Leu727Pro)
NM_001009944.3(PKD1):c.2534T>C (p.Leu845Ser) rs199476100
NM_001009944.3(PKD1):c.4070del (p.Leu1357fs)
NM_001009944.3(PKD1):c.4616G>A (p.Trp1539Ter)
NM_001009944.3(PKD1):c.4957C>T (p.Gln1653Ter)
NM_001009944.3(PKD1):c.6199C>T (p.Gln2067Ter) rs1555454604
NM_001009944.3(PKD1):c.6725_6726CA[1] (p.Gln2243fs) rs1567191601
NM_001009944.3(PKD1):c.7204C>T (p.Arg2402Ter) rs1567186946
NM_001009944.3(PKD1):c.7915C>T (p.Arg2639Ter)
NM_001009944.3(PKD1):c.8311G>A (p.Glu2771Lys) rs1057518897
NM_001009944.3(PKD1):c.974A>G (p.Tyr325Cys)

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