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: 27
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HGVS dbSNP
NM_000296.3(PKD1):c.11710-1G>A rs867092741
NM_000296.3(PKD1):c.11909delC (p.Pro3970Argfs) rs1555445123
NM_000296.3(PKD1):c.1198C>T (p.Arg400Ter)
NM_000296.3(PKD1):c.12351C>A (p.Tyr4117Ter)
NM_000296.3(PKD1):c.1307_1308delGT (p.Cys436Serfs) rs1555458891
NM_000296.3(PKD1):c.2152C>T (p.Gln718Ter) rs1555458032
NM_000296.3(PKD1):c.2932C>T (p.Gln978Ter) rs1555457446
NM_000296.3(PKD1):c.3285C>A (p.Tyr1095Ter) rs558648661
NM_000296.3(PKD1):c.4177C>T (p.Gln1393Ter)
NM_000296.3(PKD1):c.4258G>T (p.Glu1420Ter) rs1555456139
NM_000296.3(PKD1):c.5014_5015delAG (p.Arg1672Glyfs) rs1555455457
NM_000296.3(PKD1):c.6583_6589delTGCCAGC (p.Cys2195Glyfs) rs1555454353
NM_000296.3(PKD1):c.6736C>T (p.Gln2246Ter)
NM_000296.3(PKD1):c.6806C>G (p.Ser2269Ter)
NM_000296.3(PKD1):c.7666C>T (p.Gln2556Ter)
NM_000296.3(PKD1):c.7987C>T (p.Gln2663Ter)
NM_000296.3(PKD1):c.8560C>T (p.Gln2854Ter)
NM_000296.3(PKD1):c.8590G>T (p.Glu2864Ter)
NM_000296.3(PKD1):c.8905C>T (p.Gln2969Ter) rs200520583
NM_000296.3(PKD1):c.9994delG (p.Val3332Leufs) rs1555449235
NM_000296.3:c.1400_1410delGGATCGGCTTC
NM_000296.3:c.1772delC
NM_000296.3:c.3932delC
NM_000296.3:c.5552_5553delAT
NM_000296.3:c.7751_7754delTCAC
NM_001009944.2(PKD1):c.12010C>T (p.Gln4004Ter) rs766551411
NM_001009944.2(PKD1):c.6487C>T (p.Arg2163Ter) rs1555454411

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