ClinVar Miner

List of variants in gene PKD1 studied for Autosomal dominant polycystic kidney disease

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Gene type:
ClinVar version:
Total variants: 259
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HGVS dbSNP gnomAD frequency
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.7863+47T>G rs28610092 0.26045
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.1119= (p.Leu373=) rs35842 0.16401
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.11269+128C>T rs12918803 0.05671
NM_001009944.3(PKD1):c.8898G>C (p.Glu2966Asp) rs13337123 0.05219
NM_001009944.3(PKD1):c.3296-56C>T rs34048412 0.05015
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.1607-27C>T rs4787158 0.04125
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.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 0.03147
NM_001009944.3(PKD1):c.7066-55T>A rs4018161 0.02559
NM_001009944.3(PKD1):c.10768C>T (p.Leu3590=) rs116114803 0.02380
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+41G>A rs187691000 0.01291
NM_001009944.3(PKD1):c.8161+29G>A rs375810914 0.01280
NM_001009944.3(PKD1):c.*15G>A rs77566834 0.01262
NM_001009944.3(PKD1):c.8123C>T (p.Thr2708Met) rs147350387 0.01193
NM_001009944.3(PKD1):c.11156+13G>A rs142616270 0.01065
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.8948+80A>G rs182818590 0.00849
NM_001009944.3(PKD1):c.6598C>T (p.Arg2200Cys) rs140869992 0.00811
NM_001009944.3(PKD1):c.9270C>T (p.Val3090=) rs149056734 0.00736
NM_001009944.3(PKD1):c.10529C>T (p.Thr3510Met) rs45478794 0.00702
NM_001009944.3(PKD1):c.8440G>A (p.Gly2814Arg) rs149151043 0.00622
NM_001009944.3(PKD1):c.8161+8G>A rs199569003 0.00547
NM_001009944.3(PKD1):c.8187G>A (p.Ser2729=) rs28674911 0.00516
NM_001009944.3(PKD1):c.4264G>A (p.Ala1422Thr) rs140980374 0.00485
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.11976C>G (p.Ala3992=) rs112387277 0.00317
NM_001009944.3(PKD1):c.6488G>A (p.Arg2163Gln) rs145217118 0.00290
NM_001009944.3(PKD1):c.7065+20C>T rs181822446 0.00247
NM_001009944.3(PKD1):c.9499A>T (p.Ile3167Phe) rs139945204 0.00125
NM_001009944.3(PKD1):c.11376G>C (p.Ser3792=) rs201509188 0.00075
NM_001009944.3(PKD1):c.8111C>T (p.Ala2704Val) rs200509641 0.00059
NM_001009944.3(PKD1):c.74G>T (p.Gly25Val) rs972049140 0.00046
NM_001009944.3(PKD1):c.10119G>A (p.Ser3373=) rs376838860 0.00038
NM_001009944.3(PKD1):c.8335G>A (p.Glu2779Lys) rs200491536 0.00038
NM_001009944.3(PKD1):c.5783C>G (p.Pro1928Arg) rs201991587 0.00035
NM_001009944.3(PKD1):c.9829C>T (p.Arg3277Cys) rs148812376 0.00032
NM_001009944.3(PKD1):c.6965C>T (p.Thr2322Met) rs564570407 0.00026
NM_001009944.3(PKD1):c.3679G>T (p.Ala1227Ser) rs150710956 0.00022
NM_001009944.3(PKD1):c.10619G>C (p.Gly3540Ala) rs201409107 0.00018
NM_001009944.3(PKD1):c.*8T>G rs767068030 0.00017
NM_001009944.3(PKD1):c.4073C>T (p.Ala1358Val) rs376991027 0.00015
NM_001009944.3(PKD1):c.1673C>T (p.Thr558Met) rs781572938 0.00009
NM_001009944.3(PKD1):c.8235T>G (p.Ser2745=) rs556575921 0.00009
NM_001009944.3(PKD1):c.9620C>T (p.Thr3207Met) rs200214266 0.00006
NM_001009944.3(PKD1):c.1202-10C>T rs529554291 0.00005
NM_001009944.3(PKD1):c.4049C>T (p.Thr1350Met) rs777460980 0.00003
NM_001009944.3(PKD1):c.6605C>T (p.Ala2202Val) rs764264106 0.00003
NM_001009944.3(PKD1):c.7940C>T (p.Thr2647Met) rs748496650 0.00003
NM_001009944.3(PKD1):c.7222C>T (p.Arg2408Cys) rs538769374 0.00002
NM_001009944.3(PKD1):c.12632A>C (p.Glu4211Ala) rs2091400377 0.00001
NM_001009944.3(PKD1):c.1488G>T (p.Leu496=) rs1184979922 0.00001
NM_001009944.3(PKD1):c.1643C>T (p.Ala548Val) rs768613812 0.00001
NM_001009944.3(PKD1):c.167T>C (p.Leu56Pro) rs2092940195 0.00001
NM_001009944.3(PKD1):c.2878G>A (p.Gly960Ser) rs1163700577 0.00001
NM_001009944.3(PKD1):c.3643C>G (p.Leu1215Val) rs144338515 0.00001
NM_001009944.3(PKD1):c.3865G>A (p.Val1289Met) rs541552030 0.00001
NM_001009944.3(PKD1):c.3962C>T (p.Pro1321Leu) rs779379060 0.00001
NM_001009944.3(PKD1):c.6637C>T (p.Arg2213Trp) rs757222149 0.00001
NM_001009944.3(PKD1):c.8279T>C (p.Met2760Thr) rs879809222 0.00001
NM_001009944.3(PKD1):c.8311G>A (p.Glu2771Lys) rs1057518897 0.00001
NM_001009944.3(PKD1):c.9505C>T (p.Arg3169Trp) rs765180455 0.00001
NM_001009944.3(PKD1):c.-39G>T
NM_001009944.3(PKD1):c.10036A>T (p.Met3346Leu) rs2092006341
NM_001009944.3(PKD1):c.10050+54A>G rs56149818
NM_001009944.3(PKD1):c.10118C>A (p.Ser3373Ter) rs373222937
NM_001009944.3(PKD1):c.10167+25_10167+43del rs1197421698
NM_001009944.3(PKD1):c.1021dup (p.Ala341fs) rs2544878096
NM_001009944.3(PKD1):c.10221-80del rs113824832
NM_001009944.3(PKD1):c.10306C>T (p.Gln3436Ter) rs2151726823
NM_001009944.3(PKD1):c.10441del (p.Val3481fs) rs2091884240
NM_001009944.3(PKD1):c.10462C>T (p.Gln3488Ter) rs1385274120
NM_001009944.3(PKD1):c.10698GGCTGT[2] (p.3567AV[2]) rs777460677
NM_001009944.3(PKD1):c.109del (p.Cys37fs) rs2151858299
NM_001009944.3(PKD1):c.11016+1G>A rs2151707040
NM_001009944.3(PKD1):c.11016+2T>C
NM_001009944.3(PKD1):c.11017-10C>A rs555703777
NM_001009944.3(PKD1):c.11017-25A>C rs2151704874
NM_001009944.3(PKD1):c.11017-25A>G rs2151704874
NM_001009944.3(PKD1):c.11172G>C (p.Trp3724Cys) rs866331895
NM_001009944.3(PKD1):c.11270-1G>A rs2151700092
NM_001009944.3(PKD1):c.11270-5T>C
NM_001009944.3(PKD1):c.11289del (p.Gly3764fs)
NM_001009944.3(PKD1):c.11379del (p.Thr3794fs) rs1567153758
NM_001009944.3(PKD1):c.11452G>T (p.Gly3818Cys) rs2151698069
NM_001009944.3(PKD1):c.11457C>A (p.Tyr3819Ter) rs199476098
NM_001009944.3(PKD1):c.11530G>C (p.Asp3844His) rs2151697614
NM_001009944.3(PKD1):c.11539A>C (p.Ser3847Arg) rs2091581338
NM_001009944.3(PKD1):c.11712+1G>C rs2091571329
NM_001009944.3(PKD1):c.11713-1G>A rs867092741
NM_001009944.3(PKD1):c.11746G>T (p.Val3916Leu)
NM_001009944.3(PKD1):c.11916C>T (p.Arg3972=) rs77634115
NM_001009944.3(PKD1):c.11996dup (p.Leu3999fs)
NM_001009944.3(PKD1):c.12003+13C>T
NM_001009944.3(PKD1):c.12003+1G>T
NM_001009944.3(PKD1):c.12004-34C>A rs117865497
NM_001009944.3(PKD1):c.12010C>T (p.Gln4004Ter) rs766551411
NM_001009944.3(PKD1):c.1202-9G>A rs1596588606
NM_001009944.3(PKD1):c.12138+22del rs199701927
NM_001009944.3(PKD1):c.12138+5G>A
NM_001009944.3(PKD1):c.12139-12C>T
NM_001009944.3(PKD1):c.12139-23C>A rs140765983
NM_001009944.3(PKD1):c.12167G>A (p.Trp4056Ter) rs2151682538
NM_001009944.3(PKD1):c.12310del (p.Val4104fs)
NM_001009944.3(PKD1):c.1232_1251dup (p.His418fs) rs2092661595
NM_001009944.3(PKD1):c.12391_12393del (p.Glu4131del) rs1555444468
NM_001009944.3(PKD1):c.12448C>T (p.Arg4150Cys) rs1282668884
NM_001009944.3(PKD1):c.12596dup (p.Ser4200fs)
NM_001009944.3(PKD1):c.12630T>C (p.Pro4210=) rs7203729
NM_001009944.3(PKD1):c.12682dup (p.Arg4228fs) rs2544576934
NM_001009944.3(PKD1):c.12683G>C (p.Arg4228Pro) rs1064797205
NM_001009944.3(PKD1):c.12725_12735dup (p.Leu4246fs) rs2151675632
NM_001009944.3(PKD1):c.1295C>T (p.Ala432Val) rs1060499699
NM_001009944.3(PKD1):c.1353dup (p.Val452fs) rs2151822325
NM_001009944.3(PKD1):c.1396G>A (p.Val466Met) rs2855341
NM_001009944.3(PKD1):c.1398_1403del (p.Trp467_Ile468del) rs2151820984
NM_001009944.3(PKD1):c.1491dup (p.Gly498fs) rs2092648005
NM_001009944.3(PKD1):c.1583A>G (p.Tyr528Cys) rs750798165
NM_001009944.3(PKD1):c.1617G>C (p.Gln539His) rs1382845038
NM_001009944.3(PKD1):c.1723-1G>A rs1596582948
NM_001009944.3(PKD1):c.176_206del (p.Leu59fs) rs2092939869
NM_001009944.3(PKD1):c.1849+14TGGTGGG[2] rs56173969
NM_001009944.3(PKD1):c.1991C>T (p.Ala664Val) rs781018494
NM_001009944.3(PKD1):c.2069T>A (p.Val690Asp)
NM_001009944.3(PKD1):c.215+2T>G rs2544960078
NM_001009944.3(PKD1):c.2180T>C (p.Leu727Pro) rs1616940
NM_001009944.3(PKD1):c.2289_2299del (p.Cys767fs) rs2092600667
NM_001009944.3(PKD1):c.2552_2553del (p.Ser851fs) rs2544853323
NM_001009944.3(PKD1):c.2573C>T (p.Thr858Met)
NM_001009944.3(PKD1):c.2681_2690del (p.Leu893_Phe894insTer) rs2151813077
NM_001009944.3(PKD1):c.2720ACGTGGTGG[1] (p.Asp910_Val912del) rs2092591934
NM_001009944.3(PKD1):c.278T>C (p.Leu93Pro) rs2151826530
NM_001009944.3(PKD1):c.2839C>T (p.Gln947Ter) rs763199691
NM_001009944.3(PKD1):c.2848del (p.Val949_Leu950insTer)
NM_001009944.3(PKD1):c.2853+1G>A rs2151812559
NM_001009944.3(PKD1):c.2879G>A (p.Gly960Asp) rs1567208088
NM_001009944.3(PKD1):c.2986-15C>T rs2855349
NM_001009944.3(PKD1):c.302del (p.Asn101fs) rs2151826161
NM_001009944.3(PKD1):c.3101A>G (p.Asn1034Ser) rs28681051
NM_001009944.3(PKD1):c.3119CGG[1] (p.Ala1041del) rs2151806438
NM_001009944.3(PKD1):c.3202C>T (p.Gln1068Ter) rs2092538738
NM_001009944.3(PKD1):c.3244dup (p.Val1082fs)
NM_001009944.3(PKD1):c.3388_3395dup (p.Val1133fs)
NM_001009944.3(PKD1):c.3502C>T (p.Pro1168Ser) rs146887330
NM_001009944.3(PKD1):c.359+3A>T rs2151826018
NM_001009944.3(PKD1):c.3728G>A (p.Trp1243Ter) rs2092501974
NM_001009944.3(PKD1):c.3746A>C (p.Asp1249Ala) rs2092501507
NM_001009944.3(PKD1):c.3931dup (p.Ala1311fs) rs2151799399
NM_001009944.3(PKD1):c.3955G>C (p.Gly1319Arg) rs747362311
NM_001009944.3(PKD1):c.4452G>A (p.Pro1484=) rs201988915
NM_001009944.3(PKD1):c.4551C>A (p.Tyr1517Ter) rs1238351274
NM_001009944.3(PKD1):c.471_478dup (p.Ser160fs) rs2544882902
NM_001009944.3(PKD1):c.4795dup (p.Tyr1599fs) rs2544818419
NM_001009944.3(PKD1):c.4796dup (p.Tyr1599Ter) rs1596557742
NM_001009944.3(PKD1):c.5065G>T (p.Glu1689Ter) rs534630703
NM_001009944.3(PKD1):c.529+5G>A rs2544882689
NM_001009944.3(PKD1):c.5679G>A (p.Trp1893Ter) rs2151792059
NM_001009944.3(PKD1):c.5861dup (p.Asn1954fs)
NM_001009944.3(PKD1):c.5923C>T (p.Gln1975Ter) rs2092439541
NM_001009944.3(PKD1):c.5964_5965del (p.Arg1990fs) rs2151790507
NM_001009944.3(PKD1):c.6065C>A (p.Ser2022Ter)
NM_001009944.3(PKD1):c.6071del (p.Arg2024fs)
NM_001009944.3(PKD1):c.6210del (p.Cys2071fs) rs2151789316
NM_001009944.3(PKD1):c.6251del (p.Ser2084fs)
NM_001009944.3(PKD1):c.6341A>G (p.Tyr2114Cys) rs2092427197
NM_001009944.3(PKD1):c.6391A>C (p.Ser2131Arg) rs2151788244
NM_001009944.3(PKD1):c.6394TTC[1] (p.Phe2133del) rs1555454460
NM_001009944.3(PKD1):c.640T>A (p.Cys214Ser) rs1567218351
NM_001009944.3(PKD1):c.6487C>T (p.Arg2163Ter) rs1555454411
NM_001009944.3(PKD1):c.6534C>A (p.Cys2178Ter) rs1054011070
NM_001009944.3(PKD1):c.6555C>A (p.Tyr2185Ter) rs755972713
NM_001009944.3(PKD1):c.6557G>C (p.Arg2186Pro) rs1046305889
NM_001009944.3(PKD1):c.662T>C (p.Leu221Pro) rs1567218310
NM_001009944.3(PKD1):c.6741del (p.Asn2248fs)
NM_001009944.3(PKD1):c.6856dup (p.Leu2286fs) rs2544799645
NM_001009944.3(PKD1):c.6915+1G>A rs2151785467
NM_001009944.3(PKD1):c.7065+2T>G rs2151783529
NM_001009944.3(PKD1):c.7204C>T (p.Arg2402Ter) rs1567186946
NM_001009944.3(PKD1):c.7209+1G>C rs2544784172
NM_001009944.3(PKD1):c.7288C>T (p.Arg2430Ter) rs2432403
NM_001009944.3(PKD1):c.7489+1G>A rs2544779978
NM_001009944.3(PKD1):c.7489+5G>A rs2092337963
NM_001009944.3(PKD1):c.7579_7580del (p.Val2527fs) rs2151772170
NM_001009944.3(PKD1):c.7622del (p.Pro2541fs) rs1555452849
NM_001009944.3(PKD1):c.7721_7724del (p.Leu2574fs) rs2544776290
NM_001009944.3(PKD1):c.7734C>T (p.Asn2578=) rs776513110
NM_001009944.3(PKD1):c.7844T>C (p.Leu2615Pro) rs2151769881
NM_001009944.3(PKD1):c.78del (p.Arg28fs) rs2092941432
NM_001009944.3(PKD1):c.7903G>T (p.Glu2635Ter) rs778979740
NM_001009944.3(PKD1):c.7927C>T (p.Arg2643Cys) rs1452322332
NM_001009944.3(PKD1):c.7969A>C (p.Thr2657Pro) rs557020044
NM_001009944.3(PKD1):c.8017-3C>G rs780785813
NM_001009944.3(PKD1):c.8161+70C>A rs566524677
NM_001009944.3(PKD1):c.8162-37C>T rs9938566
NM_001009944.3(PKD1):c.8207C>G (p.Pro2736Arg) rs760592410
NM_001009944.3(PKD1):c.8224G>A (p.Glu2742Lys) rs202159463
NM_001009944.3(PKD1):c.8282G>C (p.Arg2761Pro) rs145629362
NM_001009944.3(PKD1):c.8291T>C (p.Met2764Thr) rs1596527405
NM_001009944.3(PKD1):c.8363C>G (p.Ser2788Trp) rs761060813
NM_001009944.3(PKD1):c.8410del (p.Cys2804fs)
NM_001009944.3(PKD1):c.8471A>G (p.Gln2824Arg) rs1567177613
NM_001009944.3(PKD1):c.856_862del (p.Ser286_Gly287insTer) rs1555459108
NM_001009944.3(PKD1):c.8603C>G (p.Ser2868Ter) rs901163374
NM_001009944.3(PKD1):c.8631del (p.Asn2878fs) rs2151754452
NM_001009944.3(PKD1):c.8669_8670insTGCCAACTC (p.Ser2896_Val2897insAlaAsnSer)
NM_001009944.3(PKD1):c.8791+40_10050+3del
NM_001009944.3(PKD1):c.9201+3G>C
NM_001009944.3(PKD1):c.9398-2A>G rs2151742515
NM_001009944.3(PKD1):c.9502_9504del (p.Phe3168del) rs2092048798
NM_001009944.3(PKD1):c.9503T>C (p.Phe3168Ser)
NM_001009944.3(PKD1):c.9543G>C (p.Lys3181Asn) rs2092047055
NM_001009944.3(PKD1):c.9561CAA[1] (p.Asn3188del) rs869312944
NM_001009944.3(PKD1):c.9569-1G>C rs2151741177
NM_001009944.3(PKD1):c.9590T>C (p.Leu3197Pro) rs2092039709
NM_001009944.3(PKD1):c.9598G>T (p.Val3200Phe) rs1422698524
NM_001009944.3(PKD1):c.9611A>G (p.Asp3204Gly) rs1596513913
NM_001009944.3(PKD1):c.965_984dup (p.Gly329fs) rs2151823406
NM_001009944.3(PKD1):c.9695A>G (p.Lys3232Arg) rs988225678
NM_001009944.3(PKD1):c.974A>G (p.Tyr325Cys) rs1232180956
NM_001009944.3(PKD1):c.9821dup (p.Thr3276fs)
NM_001009944.3(PKD1):c.9856CTC[1] (p.Leu3287del) rs2092020811
NM_001009944.3(PKD1):c.9874del (p.Leu3292fs) rs2544712716
NM_001009944.3(PKD1):c.9894G>A (p.Trp3298Ter) rs1415277933

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