ClinVar Miner

List of variants in gene PKD1 reported as benign for Polycystic kidney disease, adult type

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Gene type:
ClinVar version:
Total variants: 188
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HGVS dbSNP gnomAD frequency
NM_001009944.3(PKD1):c.2216G>A (p.Arg739Gln) rs40433 0.96736
NM_001009944.3(PKD1):c.1119C>T (p.Leu373=) rs35842 0.83599
NM_001009944.3(PKD1):c.8161+21T>C rs4786209 0.64337
NM_001009944.3(PKD1):c.12276A>G (p.Ala4092=) rs3087632 0.30741
NM_001009944.3(PKD1):c.12133A>G (p.Ile4045Val) rs10960 0.30294
NM_001009944.3(PKD1):c.7165T>C (p.Leu2389=) rs2457533 0.26954
NM_001009944.3(PKD1):c.8949-17A>G rs9928278 0.26586
NM_001009944.3(PKD1):c.8016+26T>C rs9934488 0.25952
NM_001009944.3(PKD1):c.1850-4A>G rs35929659 0.25570
NM_001009944.3(PKD1):c.9195G>C (p.Val3065=) rs9935834 0.24772
NM_001009944.3(PKD1):c.5172C>T (p.Ala1724=) rs9935526 0.24705
NM_001009944.3(PKD1):c.7441C>T (p.Leu2481=) rs2003782 0.24536
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.3275T>C (p.Met1092Thr) rs2549677 0.19794
NM_001009944.3(PKD1):c.3063T>C (p.Gly1021=) rs2369068 0.19706
NM_001009944.3(PKD1):c.7708T>C (p.Leu2570=) rs28575767 0.18662
NM_001009944.3(PKD1):c.7913A>G (p.His2638Arg) rs9936785 0.18159
NM_001009944.3(PKD1):c.8161+38G>A rs57922772 0.17977
NM_001009944.3(PKD1):c.9569-13T>C rs11248911 0.16122
NM_001009944.3(PKD1):c.3375C>T (p.Ser1125=) rs74331768 0.14545
NM_001009944.3(PKD1):c.3372C>T (p.Ala1124=) rs75510884 0.13957
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.11016+42_11016+43del rs36224524 0.06371
NM_001009944.3(PKD1):c.4674G>A (p.Thr1558=) rs79884128 0.06100
NM_001009944.3(PKD1):c.12176C>T (p.Ala4059Val) rs3209986 0.05767
NM_001009944.3(PKD1):c.12409C>T (p.Leu4137=) rs79899502 0.05695
NM_001009944.3(PKD1):c.8898G>C (p.Glu2966Asp) rs13337123 0.05219
NM_001009944.3(PKD1):c.2700G>A (p.Pro900=) rs35667726 0.05004
NM_001009944.3(PKD1):c.2730C>T (p.Asp910=) rs35965348 0.04987
NM_001009944.3(PKD1):c.8644T>A (p.Trp2882Arg) rs13333553 0.04733
NM_001009944.3(PKD1):c.5827G>A (p.Val1943Ile) rs137978188 0.04174
NM_001009944.3(PKD1):c.1607-27C>T rs4787158 0.04125
NM_001009944.3(PKD1):c.10225G>C (p.Val3409Leu) rs61747420 0.03980
NM_001009944.3(PKD1):c.1023C>T (p.Ala341=) rs11643513 0.03868
NM_001009944.3(PKD1):c.3111A>G (p.Leu1037=) rs2099534 0.03768
NM_001009944.3(PKD1):c.5454G>A (p.Ala1818=) rs143916489 0.03762
NM_001009944.3(PKD1):c.10822-14C>T rs7192711 0.03494
NM_001009944.3(PKD1):c.8913T>C (p.Ala2971=) rs9926309 0.03447
NM_001009944.3(PKD1):c.8949-20G>A rs9936029 0.03318
NM_001009944.3(PKD1):c.5763G>A (p.Leu1921=) rs2575313 0.03147
NM_001009944.3(PKD1):c.1714C>T (p.Pro572Ser) rs149022148 0.03132
NM_001009944.3(PKD1):c.8948+17A>G rs9928442 0.02972
NM_001009944.3(PKD1):c.10368C>T (p.Ala3456=) rs7194935 0.02958
NM_001009944.3(PKD1):c.2854-5C>T rs114846412 0.02895
NM_001009944.3(PKD1):c.7642G>C (p.Glu2548Gln) rs28369051 0.02881
NM_001009944.3(PKD1):c.2214C>G (p.Pro738=) rs543166733 0.02662
NM_001009944.3(PKD1):c.10768C>T (p.Leu3590=) rs116114803 0.02380
NM_001009944.3(PKD1):c.11961C>T (p.Ala3987=) rs116236042 0.01894
NM_001009944.3(PKD1):c.7077G>C (p.Arg2359=) rs4018162 0.01868
NM_001009944.3(PKD1):c.9669G>A (p.Thr3223=) rs144817614 0.01582
NM_001009944.3(PKD1):c.107C>A (p.Pro36His) rs560049593 0.01538
NM_001009944.3(PKD1):c.6927C>T (p.Gly2309=) rs189277711 0.01413
NM_001009944.3(PKD1):c.7489+30C>T rs142761413 0.01383
NM_001009944.3(PKD1):c.2694A>C (p.Ala898=) rs142357713 0.01325
NM_001009944.3(PKD1):c.8161+29G>A rs375810914 0.01280
NM_001009944.3(PKD1):c.3424C>T (p.Arg1142Trp) rs142202785 0.01272
NM_001009944.3(PKD1):c.3489C>T (p.Phe1163=) rs139744826 0.01269
NM_001009944.3(PKD1):c.*15G>A rs77566834 0.01262
NM_001009944.3(PKD1):c.11682C>T (p.Ser3894=) rs567482892 0.01235
NM_001009944.3(PKD1):c.8679C>G (p.Ser2893=) rs114143642 0.01226
NM_001009944.3(PKD1):c.8123C>T (p.Thr2708Met) rs147350387 0.01193
NM_001009944.3(PKD1):c.1539C>T (p.Pro513=) rs550769703 0.01175
NM_001009944.3(PKD1):c.8020C>T (p.Pro2674Ser) rs144557371 0.01150
NM_001009944.3(PKD1):c.11156+13G>A rs142616270 0.01065
NM_001009944.3(PKD1):c.4302C>T (p.Ile1434=) rs78509585 0.00982
NM_001009944.3(PKD1):c.7863+13T>C rs115024665 0.00963
NM_001009944.3(PKD1):c.10051-25G>A rs150399422 0.00935
NM_001009944.3(PKD1):c.5051C>T (p.Ser1684Leu) rs139520275 0.00926
NM_001009944.3(PKD1):c.1323G>A (p.Gly441=) rs145776888 0.00910
NM_001009944.3(PKD1):c.3935G>A (p.Arg1312Gln) rs142129358 0.00865
NM_001009944.3(PKD1):c.8037A>G (p.Val2679=) rs139752541 0.00850
NM_001009944.3(PKD1):c.6598C>T (p.Arg2200Cys) rs140869992 0.00811
NM_001009944.3(PKD1):c.1710C>T (p.His570=) rs367983387 0.00775
NM_001009944.3(PKD1):c.9270C>T (p.Val3090=) rs149056734 0.00736
NM_001009944.3(PKD1):c.3513C>G (p.Thr1171=) rs143784787 0.00720
NM_001009944.3(PKD1):c.11523C>T (p.Asn3841=) rs113369380 0.00705
NM_001009944.3(PKD1):c.10529C>T (p.Thr3510Met) rs45478794 0.00702
NM_001009944.3(PKD1):c.7066-5G>A rs372745980 0.00669
NM_001009944.3(PKD1):c.8964G>A (p.Ala2988=) rs76184385 0.00641
NM_001009944.3(PKD1):c.4071G>T (p.Leu1357=) rs145737766 0.00637
NM_001009944.3(PKD1):c.8440G>A (p.Gly2814Arg) rs149151043 0.00622
NM_001009944.3(PKD1):c.11537+3_11537+5dup rs201204878 0.00559
NM_001009944.3(PKD1):c.4051C>T (p.Arg1351Trp) rs55840049 0.00551
NM_001009944.3(PKD1):c.8161+8G>A rs199569003 0.00547
NM_001009944.3(PKD1):c.8017-29C>T rs546456429 0.00521
NM_001009944.3(PKD1):c.2853+23C>T rs183977076 0.00520
NM_001009944.3(PKD1):c.5682C>T (p.Ala1894=) rs144634185 0.00512
NM_001009944.3(PKD1):c.4546G>A (p.Ala1516Thr) rs148164067 0.00508
NM_001009944.3(PKD1):c.8439C>T (p.Ser2813=) rs117856830 0.00507
NM_001009944.3(PKD1):c.8293C>T (p.Arg2765Cys) rs144979397 0.00495
NM_001009944.3(PKD1):c.4264G>A (p.Ala1422Thr) rs140980374 0.00485
NM_001009944.3(PKD1):c.11411+18C>T rs183078730 0.00483
NM_001009944.3(PKD1):c.11934C>T (p.Asp3978=) rs202207855 0.00479
NM_001009944.3(PKD1):c.3277C>T (p.His1093Tyr) rs146352591 0.00473
NM_001009944.3(PKD1):c.12198C>T (p.Cys4066=) rs116216040 0.00469
NM_001009944.3(PKD1):c.11537+17C>T rs201660914 0.00458
NM_001009944.3(PKD1):c.12765C>T (p.Pro4255=) rs62038811 0.00429
NM_001009944.3(PKD1):c.7065+21G>A rs9930234 0.00418
NM_001009944.3(PKD1):c.5847C>T (p.Ser1949=) rs80111665 0.00413
NM_001009944.3(PKD1):c.8109C>T (p.Thr2703=) rs149879790 0.00411
NM_001009944.3(PKD1):c.5611G>A (p.Ala1871Thr) rs144137200 0.00389
NM_001009944.3(PKD1):c.276G>A (p.Ala92=) rs374518168 0.00388
NM_001009944.3(PKD1):c.9957C>T (p.Ser3319=) rs141101590 0.00388
NM_001009944.3(PKD1):c.4263C>T (p.Ala1421=) rs149938033 0.00366
NM_001009944.3(PKD1):c.11346C>T (p.Asp3782=) rs145955373 0.00360
NM_001009944.3(PKD1):c.1385+26C>T rs376973904 0.00356
NM_001009944.3(PKD1):c.971G>T (p.Arg324Leu) rs199476099 0.00351
NM_001009944.3(PKD1):c.4845C>T (p.Asn1615=) rs141557400 0.00346
NM_001009944.3(PKD1):c.12826C>T (p.Arg4276Trp) rs114251396 0.00335
NM_001009944.3(PKD1):c.5373C>T (p.Asn1791=) rs143017410 0.00329
NM_001009944.3(PKD1):c.11976C>G (p.Ala3992=) rs112387277 0.00317
NM_001009944.3(PKD1):c.12436G>A (p.Val4146Ile) rs148478410 0.00312
NM_001009944.3(PKD1):c.3296-15G>A rs201704201 0.00306
NM_001009944.3(PKD1):c.6496C>T (p.Arg2166Cys) rs146096401 0.00275
NM_001009944.3(PKD1):c.4495C>T (p.Leu1499=) rs142002333 0.00270
NM_001009944.3(PKD1):c.9795C>T (p.Ser3265=) rs150949575 0.00237
NM_001009944.3(PKD1):c.3930C>T (p.Asp1310=) rs147850232 0.00226
NM_001009944.3(PKD1):c.7863+11C>T rs368629973 0.00214
NM_001009944.3(PKD1):c.837G>A (p.Gly279=) rs372124319 0.00210
NM_001009944.3(PKD1):c.8948+11C>T rs147923678 0.00208
NM_001009944.3(PKD1):c.12664C>T (p.Leu4222=) rs144370969 0.00202
NM_001009944.3(PKD1):c.10406-4C>T rs151095649 0.00198
NM_001009944.3(PKD1):c.5307T>C (p.His1769=) rs575064371 0.00185
NM_001009944.3(PKD1):c.288-21C>T rs187091436 0.00181
NM_001009944.3(PKD1):c.12460C>T (p.Arg4154Cys) rs115538130 0.00178
NM_001009944.3(PKD1):c.3183G>A (p.Glu1061=) rs148727945 0.00165
NM_001009944.3(PKD1):c.6297G>T (p.Gly2099=) rs137925121 0.00162
NM_001009944.3(PKD1):c.4917C>T (p.Gly1639=) rs148852027 0.00153
NM_001009944.3(PKD1):c.7636C>T (p.His2546Tyr) rs200037070 0.00145
NM_001009944.3(PKD1):c.2235C>G (p.Ala745=) rs533569454 0.00144
NM_001009944.3(PKD1):c.11538-11C>T rs377692278 0.00137
NM_001009944.3(PKD1):c.8364G>A (p.Ser2788=) rs145176597 0.00128
NM_001009944.3(PKD1):c.12816C>T (p.Ser4272=) rs199569478 0.00115
NM_001009944.3(PKD1):c.8298C>T (p.Ser2766=) rs145850037 0.00102
NM_001009944.3(PKD1):c.10678G>A (p.Gly3560Arg) rs79000340 0.00097
NM_001009944.3(PKD1):c.2109C>T (p.His703=) rs527655141 0.00097
NM_001009944.3(PKD1):c.6078C>T (p.Val2026=) rs147253810 0.00085
NM_001009944.3(PKD1):c.9569-11C>T rs188641836 0.00064
NM_001009944.3(PKD1):c.3444G>A (p.Pro1148=) rs117955701 0.00061
NM_001009944.3(PKD1):c.5318C>T (p.Thr1773Ile) rs140162759 0.00058
NM_001009944.3(PKD1):c.9713-4C>T rs200434097 0.00058
NM_001009944.3(PKD1):c.9156C>T (p.Gly3052=) rs371368338 0.00056
NM_001009944.3(PKD1):c.5598C>T (p.Leu1866=) rs200853000 0.00046
NM_001009944.3(PKD1):c.10119G>A (p.Ser3373=) rs376838860 0.00038
NM_001009944.3(PKD1):c.9678C>T (p.Asn3226=) rs138332867 0.00036
NM_001009944.3(PKD1):c.7490-10C>T rs201304767 0.00032
NM_001009944.3(PKD1):c.11652C>T (p.Ser3884=) rs377436997 0.00031
NM_001009944.3(PKD1):c.10654G>T (p.Ala3552Ser) rs141670808 0.00026
NM_001009944.3(PKD1):c.6331G>A (p.Glu2111Lys) rs138672759 0.00024
NM_001009944.3(PKD1):c.8162-12G>A rs375993328 0.00022
NM_001009944.3(PKD1):c.288-20G>A rs572319823 0.00021
NM_001009944.3(PKD1):c.5457C>T (p.Ala1819=) rs532521117 0.00021
NM_001009944.3(PKD1):c.3600G>A (p.Ala1200=) rs372882189 0.00019
NM_001009944.3(PKD1):c.8640G>A (p.Ser2880=) rs199988586 0.00014
NM_001009944.3(PKD1):c.288-32A>G rs56205732 0.00013
NM_001009944.3(PKD1):c.9022G>A (p.Val3008Met) rs117896488 0.00010
NM_001009944.3(PKD1):c.8235T>G (p.Ser2745=) rs556575921 0.00009
NM_001009944.3(PKD1):c.6878C>T (p.Pro2293Leu) rs530832015 0.00008
NM_001009944.3(PKD1):c.11577G>T (p.Pro3859=) rs374609310 0.00007
NM_001009944.3(PKD1):c.5772C>T (p.Gly1924=) rs541661201 0.00007
NM_001009944.3(PKD1):c.10239C>T (p.Ser3413=) rs150310430 0.00003
NM_001009944.3(PKD1):c.6771G>A (p.Val2257=) rs770172913 0.00001
NM_001009944.3(PKD1):c.8949-4C>T rs956501802 0.00001
NM_001009944.3(PKD1):c.10051-12C>T
NM_001009944.3(PKD1):c.11316C>G (p.Ala3772=) rs201085734
NM_001009944.3(PKD1):c.11412-7C>T rs553377243
NM_001009944.3(PKD1):c.11916C>G (p.Arg3972=) rs77634115
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.12630T>C (p.Pro4210=) rs7203729
NM_001009944.3(PKD1):c.1849+14TGGTGGG[2] rs56173969
NM_001009944.3(PKD1):c.1849+21_1849+34del rs56173969
NM_001009944.3(PKD1):c.216-38G>A rs3874659
NM_001009944.3(PKD1):c.288-11G>C rs750270591
NM_001009944.3(PKD1):c.2986-15C>T rs2855349
NM_001009944.3(PKD1):c.3101A>G (p.Asn1034Ser) rs28681051
NM_001009944.3(PKD1):c.3502C>T (p.Pro1168Ser) rs146887330
NM_001009944.3(PKD1):c.3931G>A (p.Ala1311Thr) rs146169133
NM_001009944.3(PKD1):c.5882C>T (p.Ala1961Val) rs375440448
NM_001009944.3(PKD1):c.7065+105CT[2]
NM_001009944.3(PKD1):c.7341G>T (p.Thr2447=) rs573611925
NM_001009944.3(PKD1):c.7992C>T (p.Ile2664=) rs537012440
NM_001009944.3(PKD1):c.8791+13G>A rs150064577
NM_001009944.3(PKD1):c.8948+12G>A rs369347070

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