ClinVar Miner

List of variants in gene PKD1 reported as benign by Molecular Genetics of Inherited Kidney Disorders Laboratory, Garvan Institute of Medical Research

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Gene type:
ClinVar version:
Total variants: 66
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HGVS dbSNP gnomAD frequency
NM_001009944.3(PKD1):c.8161+21T>C rs4786209 0.64655
NM_001009944.3(PKD1):c.12276A>G (p.Ala4092=) rs3087632 0.32172
NM_001009944.3(PKD1):c.12133A>G (p.Ile4045Val) rs10960 0.30294
NM_001009944.3(PKD1):c.7165T>C (p.Leu2389=) rs2457533 0.27959
NM_001009944.3(PKD1):c.1850-4A>G rs35929659 0.26721
NM_001009944.3(PKD1):c.8949-17A>G rs9928278 0.26586
NM_001009944.3(PKD1):c.7863+47T>G rs28610092 0.26045
NM_001009944.3(PKD1):c.8016+26T>C rs9934488 0.25952
NM_001009944.3(PKD1):c.9195G>C (p.Val3065=) rs9935834 0.25891
NM_001009944.3(PKD1):c.5172C>T (p.Ala1724=) rs9935526 0.25800
NM_001009944.3(PKD1):c.7441C>T (p.Leu2481=) rs2003782 0.25615
NM_001009944.3(PKD1):c.4665A>C (p.Ala1555=) rs71385734 0.24531
NM_001009944.3(PKD1):c.9196T>C (p.Phe3066Leu) rs9925969 0.23746
NM_001009944.3(PKD1):c.9330T>C (p.Pro3110=) rs12926160 0.22231
NM_001009944.3(PKD1):c.3063T>C (p.Gly1021=) rs2369068 0.20812
NM_001009944.3(PKD1):c.7913A>G (p.His2638Arg) rs9936785 0.19138
NM_001009944.3(PKD1):c.7708T>C (p.Leu2570=) rs28575767 0.18662
NM_001009944.3(PKD1):c.8161+38G>A rs57922772 0.17977
NM_001009944.3(PKD1):c.9569-13T>C rs11248911 0.16978
NM_001009944.3(PKD1):c.1119= (p.Leu373=) rs35842 0.16401
NM_001009944.3(PKD1):c.3372C>T (p.Ala1124=) rs75510884 0.14645
NM_001009944.3(PKD1):c.3375C>T (p.Ser1125=) rs74331768 0.14545
NM_001009944.3(PKD1):c.10535C>T (p.Ala3512Val) rs34197769 0.09456
NM_001009944.3(PKD1):c.4195T>C (p.Trp1399Arg) rs116092985 0.07036
NM_001009944.3(PKD1):c.4674G>A (p.Thr1558=) rs79884128 0.06100
NM_001009944.3(PKD1):c.12176C>T (p.Ala4059Val) rs3209986 0.05783
NM_001009944.3(PKD1):c.11269+128C>T rs12918803 0.05740
NM_001009944.3(PKD1):c.12409C>T (p.Leu4137=) rs79899502 0.05705
NM_001009944.3(PKD1):c.2700G>A (p.Pro900=) rs35667726 0.05044
NM_001009944.3(PKD1):c.2730C>T (p.Asp910=) rs35965348 0.05024
NM_001009944.3(PKD1):c.3296-56C>T rs34048412 0.05015
NM_001009944.3(PKD1):c.1607-27C>T rs4787158 0.04125
NM_001009944.3(PKD1):c.1023C>T (p.Ala341=) rs11643513 0.03937
NM_001009944.3(PKD1):c.3111A>G (p.Leu1037=) rs2099534 0.03878
NM_001009944.3(PKD1):c.6915+77A>T rs200363107 0.03507
NM_001009944.3(PKD1):c.2216= (p.Arg739=) rs40433 0.03313
NM_001009944.3(PKD1):c.5763G>A (p.Leu1921=) rs2575313 0.03243
NM_001009944.3(PKD1):c.7066-55T>A rs4018161 0.02701
NM_001009944.3(PKD1):c.10768C>T (p.Leu3590=) rs116114803 0.02380
NM_001009944.3(PKD1):c.6927C>T (p.Gly2309=) rs189277711 0.01413
NM_001009944.3(PKD1):c.7489+41G>A rs187691000 0.01291
NM_001009944.3(PKD1):c.8161+29G>A rs375810914 0.01280
NM_001009944.3(PKD1):c.10051-25G>A rs150399422 0.00935
NM_001009944.3(PKD1):c.8948+80A>G rs182818590 0.00849
NM_001009944.3(PKD1):c.9270C>T (p.Val3090=) rs149056734 0.00736
NM_001009944.3(PKD1):c.8187G>A (p.Ser2729=) rs28674911 0.00534
NM_001009944.3(PKD1):c.9957C>T (p.Ser3319=) rs141101590 0.00388
NM_001009944.3(PKD1):c.276G>A (p.Ala92=) rs374518168 0.00354
NM_001009944.3(PKD1):c.11976C>G (p.Ala3992=) rs112387277 0.00329
NM_001009944.3(PKD1):c.7065+20C>T rs181822446 0.00247
NM_001009944.3(PKD1):c.11376G>C (p.Ser3792=) rs201509188 0.00075
NM_001009944.3(PKD1):c.8235T>G (p.Ser2745=) rs556575921 0.00020
NM_001009944.3(PKD1):c.1488G>T (p.Leu496=) rs1184979922 0.00001
NM_001009944.3(PKD1):c.10050+54A>G rs56149818
NM_001009944.3(PKD1):c.10221-80del rs113824832
NM_001009944.3(PKD1):c.11916C>T (p.Arg3972=) rs77634115
NM_001009944.3(PKD1):c.12004-34C>A rs117865497
NM_001009944.3(PKD1):c.12138+22del rs199701927
NM_001009944.3(PKD1):c.12139-23C>A rs140765983
NM_001009944.3(PKD1):c.12630T>C (p.Pro4210=) rs7203729
NM_001009944.3(PKD1):c.1849+14TGGTGGG[2] rs56173969
NM_001009944.3(PKD1):c.2986-15C>T rs2855349
NM_001009944.3(PKD1):c.4452G>A (p.Pro1484=) rs201988915
NM_001009944.3(PKD1):c.7734C>T (p.Asn2578=) rs776513110
NM_001009944.3(PKD1):c.8161+70C>A rs566524677
NM_001009944.3(PKD1):c.8162-37C>T rs9938566

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