ClinVar Miner

List of variants in gene PKD1 reported by Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre

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Total variants: 46
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HGVS dbSNP gnomAD frequency
NM_001009944.3(PKD1):c.10405+7T>C rs201762369 0.00016
NM_001009944.3(PKD1):c.4759C>T (p.Arg1587Cys) rs773407492 0.00016
NM_001009944.3(PKD1):c.8464G>A (p.Val2822Met) rs201289693 0.00010
NM_001009944.3(PKD1):c.7516G>A (p.Ala2506Thr) rs755942659 0.00005
NM_001009944.3(PKD1):c.9454C>T (p.Arg3152Trp) rs776866974 0.00003
NM_001009944.3(PKD1):c.9058G>A (p.Glu3020Lys) rs746423125 0.00002
NM_001009944.3(PKD1):c.12013C>T (p.Gln4005Ter) rs1567148587 0.00001
NM_001009944.3(PKD1):c.340T>G (p.Leu114Val) rs980956715 0.00001
NM_001009944.3(PKD1):c.6679C>T (p.His2227Tyr) rs1257476353 0.00001
NM_001009944.3(PKD1):c.7390C>T (p.Arg2464Cys) rs762786891 0.00001
NM_001009944.3(PKD1):c.10219del (p.Ser3407fs) rs2151728391
NM_001009944.3(PKD1):c.10233G>T (p.Trp3411Cys)
NM_001009944.3(PKD1):c.10358dup (p.Ser3454fs) rs2151726623
NM_001009944.3(PKD1):c.10419C>G (p.Ile3473Met) rs2091884870
NM_001009944.3(PKD1):c.10441dup (p.Val3481fs) rs2091884240
NM_001009944.3(PKD1):c.11717G>A (p.Cys3906Tyr) rs369291413
NM_001009944.3(PKD1):c.1217G>A (p.Cys406Tyr) rs2544876485
NM_001009944.3(PKD1):c.1312dup (p.Ala438fs) rs2544876023
NM_001009944.3(PKD1):c.1585G>A (p.Val529Ile)
NM_001009944.3(PKD1):c.1653_1654dup (p.Asp552fs) rs2151819777
NM_001009944.3(PKD1):c.2020_2025dup (p.Gly674_Leu675dup) rs1567212718
NM_001009944.3(PKD1):c.2093_2097+2del
NM_001009944.3(PKD1):c.2269C>T (p.Gln757Ter) rs775710328
NM_001009944.3(PKD1):c.2438G>T (p.Cys813Phe) rs2092598008
NM_001009944.3(PKD1):c.2484C>A (p.Tyr828Ter) rs1402606705
NM_001009944.3(PKD1):c.3542A>G (p.Tyr1181Cys) rs1458516705
NM_001009944.3(PKD1):c.4049C>A (p.Thr1350Lys)
NM_001009944.3(PKD1):c.4070del (p.Leu1357fs) rs1596560540
NM_001009944.3(PKD1):c.4183G>A (p.Gly1395Arg)
NM_001009944.3(PKD1):c.4346ACA[1] (p.Asn1450del) rs2092482302
NM_001009944.3(PKD1):c.5255G>A (p.Trp1752Ter)
NM_001009944.3(PKD1):c.5462C>T (p.Ser1821Phe) rs2092450904
NM_001009944.3(PKD1):c.5517G>A (p.Trp1839Ter)
NM_001009944.3(PKD1):c.5744C>T (p.Ser1915Leu) rs760842136
NM_001009944.3(PKD1):c.5995G>A (p.Gly1999Ser) rs2092437527
NM_001009944.3(PKD1):c.6000_6001del (p.Arg2001fs) rs2544806868
NM_001009944.3(PKD1):c.6236T>C (p.Phe2079Ser)
NM_001009944.3(PKD1):c.6282G>A (p.Trp2094Ter) rs2151788870
NM_001009944.3(PKD1):c.6583_6589del (p.Cys2195fs) rs1555454353
NM_001009944.3(PKD1):c.6994_7000dup (p.Val2334fs) rs1555453872
NM_001009944.3(PKD1):c.7075del (p.Arg2359fs) rs2092358825
NM_001009944.3(PKD1):c.7115C>G (p.Ser2372Cys) rs2544784984
NM_001009944.3(PKD1):c.755dup (p.Pro253fs) rs1352019198
NM_001009944.3(PKD1):c.9148G>A (p.Ala3050Thr)
NM_001009944.3(PKD1):c.9377C>T (p.Thr3126Ile) rs1567173560
NM_001009944.3(PKD1):c.9889G>A (p.Val3297Met) rs775497330

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