ClinVar Miner

List of variants in gene PKD1 reported as pathogenic by ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

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Gene type:
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Total variants: 44
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HGVS dbSNP
NM_001009944.3(PKD1):c.10163del (p.Ala3388fs) rs1596503384
NM_001009944.3(PKD1):c.11713-1G>A rs867092741
NM_001009944.3(PKD1):c.11912del (p.Pro3971fs) rs1555445123
NM_001009944.3(PKD1):c.1198C>T (p.Arg400Ter) rs774453006
NM_001009944.3(PKD1):c.12010C>T (p.Gln4004Ter) rs766551411
NM_001009944.3(PKD1):c.12354C>A (p.Tyr4118Ter) rs1188292999
NM_001009944.3(PKD1):c.12381C>G (p.Tyr4127Ter) rs756212622
NM_001009944.3(PKD1):c.1305_1306GT[1] (p.Cys436fs) rs1555458891
NM_001009944.3(PKD1):c.1400_1410del (p.Trp467fs) rs1567215697
NM_001009944.3(PKD1):c.166_167insGCGGGCC (p.Leu56fs) rs1596636668
NM_001009944.3(PKD1):c.1723-1G>A rs1596582948
NM_001009944.3(PKD1):c.1772del (p.Thr591fs) rs1567213901
NM_001009944.3(PKD1):c.1930_1932delinsTG (p.Gly644fs) rs1596580473
NM_001009944.3(PKD1):c.2085del (p.Ala696fs) rs1567212531
NM_001009944.3(PKD1):c.2152C>T (p.Gln718Ter) rs1555458032
NM_001009944.3(PKD1):c.2677_2678del (p.Leu893fs) rs1567210080
NM_001009944.3(PKD1):c.2932C>T (p.Gln978Ter) rs1555457446
NM_001009944.3(PKD1):c.3285C>A (p.Tyr1095Ter) rs558648661
NM_001009944.3(PKD1):c.3346C>T (p.Gln1116Ter) rs1596563657
NM_001009944.3(PKD1):c.3792C>A (p.Tyr1264Ter) rs145263744
NM_001009944.3(PKD1):c.3932del (p.Ala1311fs) rs1567201999
NM_001009944.3(PKD1):c.4177C>T (p.Gln1393Ter) rs1567201083
NM_001009944.3(PKD1):c.4258G>T (p.Glu1420Ter) rs1555456139
NM_001009944.3(PKD1):c.4796dup (p.Tyr1599Ter) rs1596557742
NM_001009944.3(PKD1):c.4797C>A (p.Tyr1599Ter) rs202110519
NM_001009944.3(PKD1):c.5014_5015del (p.Arg1672fs) rs1555455457
NM_001009944.3(PKD1):c.5141del (p.Phe1714fs) rs1596556375
NM_001009944.3(PKD1):c.5552_5553del (p.His1851fs) rs1567196314
NM_001009944.3(PKD1):c.5921del (p.Leu1974fs) rs1596553527
NM_001009944.3(PKD1):c.6487C>T (p.Arg2163Ter) rs1555454411
NM_001009944.3(PKD1):c.6583_6589del (p.Cys2195fs) rs1555454353
NM_001009944.3(PKD1):c.6736C>T (p.Gln2246Ter) rs1567191534
NM_001009944.3(PKD1):c.6795C>A (p.Tyr2265Ter) rs1312494071
NM_001009944.3(PKD1):c.6806C>G (p.Ser2269Ter) rs1567191179
NM_001009944.3(PKD1):c.7666C>T (p.Gln2556Ter) rs1567184366
NM_001009944.3(PKD1):c.7751_7754del (p.Leu2584fs) rs1567183784
NM_001009944.3(PKD1):c.7987C>T (p.Gln2663Ter) rs1567182193
NM_001009944.3(PKD1):c.8239_8242del (p.Met2747fs) rs1596527579
NM_001009944.3(PKD1):c.8560C>T (p.Gln2854Ter) rs1364976535
NM_001009944.3(PKD1):c.8590G>T (p.Glu2864Ter) rs374629549
NM_001009944.3(PKD1):c.8905C>T (p.Gln2969Ter) rs200520583
NM_001009944.3(PKD1):c.9585G>A (p.Trp3195Ter) rs1596514027
NM_001009944.3(PKD1):c.9824dup (p.Thr3276fs) rs1596512769
NM_001009944.3(PKD1):c.9994del (p.Val3332fs) rs1555449235

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