ClinVar Miner

List of variants reported as benign for cystic kidney disease

Included ClinVar conditions (50):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 493
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HGVS dbSNP gnomAD frequency
NM_138694.4(PKHD1):c.*374T>C rs2784201 0.99624
NM_001009944.3(PKD1):c.2216G>A (p.Arg739Gln) rs40433 0.96687
NM_138694.4(PKHD1):c.1185T>C (p.Asp395=) rs1896976 0.96234
NM_138694.4(PKHD1):c.2279+57A>G rs9395759 0.96175
NM_138694.4(PKHD1):c.5608T>G (p.Leu1870Val) rs2435322 0.95778
NM_138694.4(PKHD1):c.*2564A>G rs1414504 0.88144
NM_001009944.3(PKD1):c.1119C>T (p.Leu373=) rs35842 0.83599
NM_138694.4(PKHD1):c.8798-19A>C rs1326605 0.73187
NM_173543.3(DZIP1L):c.1633A>G (p.Thr545Ala) rs446644 0.71390
NM_173543.3(DZIP1L):c.1778G>A (p.Arg593His) rs374045 0.71372
NM_138694.4(PKHD1):c.*3026A>G rs2784199 0.70489
NM_138694.4(PKHD1):c.5909-46A>G rs1266889 0.70194
NM_003361.4(UMOD):c.522C>T (p.Cys174=) rs7193058 0.69325
NM_000297.4(PKD2):c.844-22G>A rs2725221 0.66782
NM_173543.3(DZIP1L):c.1933A>G (p.Lys645Glu) rs442800 0.65135
NM_138694.4(PKHD1):c.10156+22412C>T rs9349593 0.65024
NM_001009944.3(PKD1):c.8161+21T>C rs4786209 0.64655
NM_138694.4(PKHD1):c.8108-217C>T rs9474105 0.60763
NM_001204286.1(MUC1):c.93G>A (p.Thr31=) rs4072037 0.58553
NM_138694.4(PKHD1):c.8303-65C>A rs7765455 0.57777
NM_173543.3(DZIP1L):c.961C>T (p.Arg321Trp) rs2724693 0.56621
NM_138694.4(PKHD1):c.12143A>G (p.Gln4048Arg) rs9381994 0.52715
NM_138694.4(PKHD1):c.11696A>G (p.Gln3899Arg) rs4715227 0.52431
NM_138694.4(PKHD1):c.7587G>A (p.Gly2529=) rs12210295 0.49949
NM_138694.4(PKHD1):c.3629-32A>G rs2499480 0.46280
NM_138694.4(PKHD1):c.8302+12T>A rs1571084 0.45597
NM_138694.4(PKHD1):c.8302+89A>T rs1571083 0.45590
NM_138694.4(PKHD1):c.8173+144G>A rs9474104 0.45513
NM_138694.4(PKHD1):c.282-41A>G rs1892274 0.43840
NM_138694.4(PKHD1):c.-84-47T>C rs9370097 0.43816
NM_138694.4(PKHD1):c.2278C>T (p.Arg760Cys) rs9370096 0.41404
NM_138694.4(PKHD1):c.667+57G>A rs17576809 0.41111
NM_138694.4(PKHD1):c.3785C>T (p.Ala1262Val) rs9296669 0.41087
NM_138694.4(PKHD1):c.2407+50C>T rs10948667 0.41035
NM_138694.4(PKHD1):c.602+67A>G rs3936986 0.41008
NM_138694.4(PKHD1):c.7215+102T>A rs4711985 0.39765
NM_138694.4(PKHD1):c.7734-4T>C rs7452724 0.39369
NM_138694.4(PKHD1):c.7733+63C>T rs9382043 0.39367
NM_138694.4(PKHD1):c.7733+33C>T rs9382044 0.39361
NM_138694.4(PKHD1):c.7764A>G (p.Leu2588=) rs9349603 0.39323
NM_138694.4(PKHD1):c.8441-32G>C rs3920621 0.33143
NM_138694.4(PKHD1):c.9998+49A>G rs2397060 0.32325
NM_001009944.3(PKD1):c.12276A>G (p.Ala4092=) rs3087632 0.32172
NM_138694.4(PKHD1):c.9998+175T>C rs35999523 0.30649
NM_138694.4(PKHD1):c.9237G>A (p.Ala3079=) rs765525 0.30589
NM_138694.4(PKHD1):c.8643-72C>T rs9370049 0.30583
NM_001009944.3(PKD1):c.12133A>G (p.Ile4045Val) rs10960 0.30294
NM_138694.4(PKHD1):c.234C>T (p.Asp78=) rs9474143 0.29769
NM_001009944.3(PKD1):c.7165T>C (p.Leu2389=) rs2457533 0.27959
NM_138694.4(PKHD1):c.527+19T>C rs9474140 0.27509
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_000297.4(PKD2):c.*1237G>A rs10965 0.25694
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_000297.4(PKD2):c.83G>C (p.Arg28Pro) rs1805044 0.23760
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 0.20904
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_138694.4(PKHD1):c.8441-68T>C rs7775050 0.19022
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_003361.4(UMOD):c.792G>A (p.Val264=) rs13335818 0.15554
NM_003361.4(UMOD):c.885G>A (p.Gly295=) rs28544423 0.15053
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_138694.4(PKHD1):c.11786-30C>T rs9395699 0.14058
NM_000297.4(PKD2):c.*256C>T rs2728121 0.13098
NM_138694.4(PKHD1):c.1234-10T>A rs4715272 0.12902
NM_138694.4(PKHD1):c.*2208A>G rs2784200 0.12333
NM_000297.4(PKD2):c.1094+92A>G rs17013735 0.10175
NM_001009944.3(PKD1):c.10535C>T (p.Ala3512Val) rs34197769 0.09456
NM_138694.4(PKHD1):c.214C>T (p.Leu72=) rs6901799 0.09338
NM_000297.4(PKD2):c.420G>A (p.Gly140=) rs2728118 0.08616
NM_000297.4(PKD2):c.*1030G>A rs2725202 0.08186
NM_138694.4(PKHD1):c.2046A>C (p.Pro682=) rs4715271 0.07716
NM_001009944.3(PKD1):c.4195T>C (p.Trp1399Arg) rs116092985 0.07036
NM_138694.4(PKHD1):c.10521C>T (p.His3507=) rs34460237 0.06613
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.8898G>C (p.Glu2966Asp) rs13337123 0.05636
NM_138694.4(PKHD1):c.8643-24A>G rs2766125 0.05514
NM_138694.4(PKHD1):c.8798-19del rs112525785 0.05493
NM_138694.4(PKHD1):c.8174-49G>C rs12527920 0.05408
NM_138694.4(PKHD1):c.8173+37G>A rs12523900 0.05319
NM_138694.4(PKHD1):c.8302+18A>G rs12529717 0.05228
NM_001009944.3(PKD1):c.8644T>A (p.Trp2882Arg) rs13333553 0.05104
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_138694.4(PKHD1):c.1587T>C (p.Asn529=) rs62406036 0.05014
NM_138694.4(PKHD1):c.2489A>G (p.Asn830Ser) rs62406032 0.05010
NM_138694.4(PKHD1):c.11509G>A (p.Val3837Ile) rs9474034 0.04948
NM_138694.4(PKHD1):c.11507-21A>G rs2174860 0.04499
NM_138694.4(PKHD1):c.11714T>A (p.Ile3905Asn) rs2661488 0.04490
NM_001009944.3(PKD1):c.10225G>C (p.Val3409Leu) rs61747420 0.04243
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.1023C>T (p.Ala341=) rs11643513 0.03937
NM_138694.4(PKHD1):c.3756G>C (p.Leu1252=) rs9689306 0.03897
NM_001009944.3(PKD1):c.3111A>G (p.Leu1037=) rs2099534 0.03878
NM_001009944.3(PKD1):c.5454G>A (p.Ala1818=) rs143916489 0.03762
NM_138694.4(PKHD1):c.11340T>C (p.Pro3780=) rs17667728 0.03744
NM_001009944.3(PKD1):c.6915+77A>T rs200363107 0.03507
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.2216= (p.Arg739=) rs40433 0.03313
NM_001009944.3(PKD1):c.5763G>A (p.Leu1921=) rs2575313 0.03243
NM_138694.4(PKHD1):c.5896C>T (p.Leu1966=) rs1266923 0.03202
NM_001009944.3(PKD1):c.10368C>T (p.Ala3456=) rs7194935 0.03183
NM_001009944.3(PKD1):c.8948+17A>G rs9928442 0.03177
NM_003361.4(UMOD):c.-47T>C rs75645968 0.03162
NM_001009944.3(PKD1):c.1714C>T (p.Pro572Ser) rs149022148 0.03132
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 0.02846
NM_001009944.3(PKD1):c.7066-55T>A rs4018161 0.02701
NM_003361.4(UMOD):c.264C>T (p.Gly88=) rs77875418 0.02558
NM_138694.4(PKHD1):c.1736C>T (p.Thr579Met) rs45500692 0.02436
NM_003361.4(UMOD):c.*104C>T rs111699931 0.02416
NM_000297.4(PKD2):c.568G>A (p.Ala190Thr) rs117078377 0.02396
NM_001009944.3(PKD1):c.10768C>T (p.Leu3590=) rs116114803 0.02380
NM_138694.4(PKHD1):c.*3025C>T rs2771012 0.02192
NM_138694.4(PKHD1):c.1694-32C>G rs12196276 0.02096
NM_138694.4(PKHD1):c.1234-39C>G rs115660674 0.02051
NM_138694.4(PKHD1):c.8950+44A>G rs58823342 0.01939
NM_000297.4(PKD2):c.596-16C>T rs62310565 0.01932
NM_138694.4(PKHD1):c.5236+14A>G rs12210725 0.01912
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_138694.4(PKHD1):c.9577G>A (p.Val3193Ile) rs35445653 0.01835
NM_138694.4(PKHD1):c.8108-16G>C rs73442356 0.01832
NM_003361.4(UMOD):c.*130C>T rs113468667 0.01630
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.7489+30C>T rs142761413 0.01436
NM_001009944.3(PKD1):c.6927C>T (p.Gly2309=) rs189277711 0.01413
NM_001009944.3(PKD1):c.2694A>C (p.Ala898=) rs142357713 0.01372
NM_138694.4(PKHD1):c.11174+11A>G rs115072237 0.01349
NM_001009944.3(PKD1):c.7489+41G>A rs187691000 0.01291
NM_138694.4(PKHD1):c.8673C>G (p.Arg2891=) rs116098879 0.01291
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_138694.4(PKHD1):c.1234-5C>T rs116124750 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_138694.4(PKHD1):c.10585G>C (p.Glu3529Gln) rs145184792 0.01187
NM_138694.4(PKHD1):c.11878G>A (p.Val3960Ile) rs34548196 0.01161
NM_001009944.3(PKD1):c.1539C>T (p.Pro513=) rs550769703 0.01159
NM_138694.4(PKHD1):c.8174-18T>A rs111383080 0.01154
NM_001009944.3(PKD1):c.8020C>T (p.Pro2674Ser) rs144557371 0.01150
NM_138694.4(PKHD1):c.7298A>T (p.Asp2433Val) rs76895755 0.01078
NM_138694.4(PKHD1):c.3876C>T (p.Thr1292=) rs2499482 0.01071
NM_138694.4(PKHD1):c.3686G>C (p.Trp1229Ser) rs2499481 0.01066
NM_001009944.3(PKD1):c.11156+13G>A rs142616270 0.01065
NM_138694.4(PKHD1):c.8606C>A (p.Thr2869Lys) rs142522748 0.01047
NM_000297.4(PKD2):c.710-29G>A rs72873478 0.01046
NM_000297.4(PKD2):c.2358+23G>A rs10516804 0.01042
NM_003361.4(UMOD):c.538C>G (p.Leu180Val) rs187555378 0.00991
NM_001009944.3(PKD1):c.5051C>T (p.Ser1684Leu) rs139520275 0.00989
NM_000297.4(PKD2):c.1359A>G (p.Pro453=) rs17013754 0.00985
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.3935G>A (p.Arg1312Gln) rs142129358 0.00924
NM_138694.4(PKHD1):c.391-43T>A rs116414807 0.00920
NM_138694.4(PKHD1):c.888A>T (p.Pro296=) rs76012218 0.00916
NM_001009944.3(PKD1):c.1323G>A (p.Gly441=) rs145776888 0.00910
NM_138694.4(PKHD1):c.7733+43G>A rs141811489 0.00897
NM_001009944.3(PKD1):c.8037A>G (p.Val2679=) rs139752541 0.00890
NM_138694.4(PKHD1):c.3407A>G (p.Tyr1136Cys) rs41273726 0.00885
NM_001009944.3(PKD1):c.8948+80A>G rs182818590 0.00849
NM_138694.4(PKHD1):c.1603-28T>C rs73435705 0.00844
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_138694.4(PKHD1):c.7921A>G (p.Thr2641Ala) rs7766366 0.00773
NM_138694.4(PKHD1):c.7110-7T>A rs113034899 0.00770
NM_138694.4(PKHD1):c.4035C>A (p.Gly1345=) rs140791735 0.00769
NM_001009944.3(PKD1):c.9270C>T (p.Val3090=) rs149056734 0.00736
NM_138694.4(PKHD1):c.10515C>A (p.Ser3505Arg) rs139014478 0.00721
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_138694.4(PKHD1):c.8521A>G (p.Met2841Val) rs113562492 0.00702
NM_003361.4(UMOD):c.-56G>A rs79245268 0.00692
NM_138694.4(PKHD1):c.2027C>G (p.Pro676Arg) rs115045643 0.00681
NM_000297.4(PKD2):c.444C>T (p.Gly148=) rs181704860 0.00680
NM_001009944.3(PKD1):c.7066-5G>A rs372745980 0.00669
NM_138694.4(PKHD1):c.6245C>T (p.Thr2082Ile) rs147487242 0.00646
NM_001009944.3(PKD1):c.8440G>A (p.Gly2814Arg) rs149151043 0.00642
NM_001009944.3(PKD1):c.4071G>T (p.Leu1357=) rs145737766 0.00637
NM_138694.4(PKHD1):c.4343A>G (p.Glu1448Gly) rs116809571 0.00632
NM_001009944.3(PKD1):c.8964G>A (p.Ala2988=) rs76184385 0.00619
NM_138694.4(PKHD1):c.2279+13T>G rs188914598 0.00572
NM_000297.4(PKD2):c.2134T>C (p.Leu712=) rs73841280 0.00563
NM_000296.4(PKD1):c.11534+3_11534+5dup rs201204878 0.00559
NM_001009944.3(PKD1):c.8161+8G>A rs199569003 0.00559
NM_000297.4(PKD2):c.570G>T (p.Ala190=) rs541702320 0.00554
NM_001009944.3(PKD1):c.4051C>T (p.Arg1351Trp) rs55840049 0.00551
NM_138694.4(PKHD1):c.5725C>T (p.Arg1909Trp) rs115338476 0.00551
NM_001009944.3(PKD1):c.8187G>A (p.Ser2729=) rs28674911 0.00534
NM_000297.4(PKD2):c.2119-35T>C rs78885971 0.00524
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.3277C>T (p.His1093Tyr) rs146352591 0.00519
NM_138694.4(PKHD1):c.9829+10T>G rs143526199 0.00518
NM_138694.4(PKHD1):c.1964+17G>T rs201349527 0.00517
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_138694.4(PKHD1):c.6777C>T (p.Phe2259=) rs140065359 0.00482
NM_000297.4(PKD2):c.2398A>C (p.Met800Leu) rs2234917 0.00481
NM_001009944.3(PKD1):c.11934C>T (p.Asp3978=) rs202207855 0.00479
NM_001009944.3(PKD1):c.11537+17C>T rs201660914 0.00478
NM_001009944.3(PKD1):c.12198C>T (p.Cys4066=) rs116216040 0.00469
NM_138694.4(PKHD1):c.11738G>A (p.Arg3913His) rs2661487 0.00453
NM_001009944.3(PKD1):c.12765C>T (p.Pro4255=) rs62038811 0.00448
NM_001009944.3(PKD1):c.7065+21G>A rs9930234 0.00418
NM_001009944.3(PKD1):c.8109C>T (p.Thr2703=) rs149879790 0.00411
NM_138694.4(PKHD1):c.9415G>T (p.Asp3139Tyr) rs45503297 0.00407
NM_001009944.3(PKD1):c.5611G>A (p.Ala1871Thr) rs144137200 0.00389
NM_001009944.3(PKD1):c.9957C>T (p.Ser3319=) rs141101590 0.00388
NM_001009944.3(PKD1):c.10234C>T (p.Pro3412Ser) rs149605181 0.00383
NM_001009944.3(PKD1):c.4263C>T (p.Ala1421=) rs149938033 0.00366
NM_001009944.3(PKD1):c.4845C>T (p.Asn1615=) rs141557400 0.00364
NM_001009944.3(PKD1):c.5373C>T (p.Asn1791=) rs143017410 0.00357
NM_001009944.3(PKD1):c.276G>A (p.Ala92=) rs374518168 0.00354
NM_001009944.3(PKD1):c.971G>T (p.Arg324Leu) rs199476099 0.00351
NM_001009944.3(PKD1):c.5847C>T (p.Ser1949=) rs80111665 0.00350
NM_001009944.3(PKD1):c.11346C>T (p.Asp3782=) rs145955373 0.00349
NM_138694.4(PKHD1):c.8581A>G (p.Ser2861Gly) rs150925674 0.00340
NM_001009944.3(PKD1):c.12826C>T (p.Arg4276Trp) rs114251396 0.00335
NM_001009944.3(PKD1):c.9111G>A (p.Ser3037=) rs57870377 0.00331
NM_001009944.3(PKD1):c.11976C>G (p.Ala3992=) rs112387277 0.00329
NM_001009944.3(PKD1):c.4018C>T (p.Arg1340Trp) rs143690392 0.00324
NM_001009944.3(PKD1):c.3296-15G>A rs201704201 0.00316
NM_138694.4(PKHD1):c.2715+7del rs551015414 0.00313
NM_000297.4(PKD2):c.2420G>A (p.Arg807Gln) rs147654263 0.00312
NM_001009944.3(PKD1):c.12436G>A (p.Val4146Ile) rs148478410 0.00312
NM_001009944.3(PKD1):c.6496C>T (p.Arg2166Cys) rs146096401 0.00289
NM_138694.4(PKHD1):c.9866G>T (p.Ser3289Ile) rs148932323 0.00287
NM_138694.4(PKHD1):c.4920A>G (p.Val1640=) rs142465959 0.00286
NM_000297.4(PKD2):c.2411G>A (p.Ser804Asn) rs145343957 0.00280
NM_001009944.3(PKD1):c.4495C>T (p.Leu1499=) rs142002333 0.00272
NM_138694.4(PKHD1):c.6184C>T (p.Leu2062=) rs116156469 0.00271
NM_138694.4(PKHD1):c.6211A>C (p.Asn2071His) rs143832120 0.00271
NM_001009944.3(PKD1):c.1385+26C>T rs376973904 0.00267
NM_138694.4(PKHD1):c.9788T>C (p.Val3263Ala) rs146519878 0.00261
NM_138694.4(PKHD1):c.1950G>A (p.Arg650=) rs143226202 0.00257
NM_001009944.3(PKD1):c.7065+20C>T rs181822446 0.00247
NM_001009944.3(PKD1):c.9795C>T (p.Ser3265=) rs150949575 0.00237
NM_138694.4(PKHD1):c.2853C>T (p.Thr951=) rs139815340 0.00230
NM_001009944.3(PKD1):c.3930C>T (p.Asp1310=) rs147850232 0.00226
NM_138694.4(PKHD1):c.8345G>C (p.Gly2782Ala) rs147222255 0.00223
NM_001009944.3(PKD1):c.7863+11C>T rs368629973 0.00214
NM_001009944.3(PKD1):c.8948+11C>T rs147923678 0.00208
NM_001009944.3(PKD1):c.4872C>T (p.Ile1624=) rs142575178 0.00203
NM_001009944.3(PKD1):c.837G>A (p.Gly279=) rs372124319 0.00199
NM_001009944.3(PKD1):c.10406-4C>T rs151095649 0.00198
NM_138694.4(PKHD1):c.652G>A (p.Glu218Lys) rs149522482 0.00198
NM_003361.3(UMOD):c.-159G>A rs138793302 0.00187
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_138694.4(PKHD1):c.5100C>T (p.Thr1700=) rs143717242 0.00178
NM_000297.4(PKD2):c.1445T>G (p.Phe482Cys) rs75762896 0.00176
NM_001009944.3(PKD1):c.3183G>A (p.Glu1061=) rs148727945 0.00165
NM_138694.4(PKHD1):c.8951-13C>T rs112249812 0.00163
NM_001009944.3(PKD1):c.6297G>T (p.Gly2099=) rs137925121 0.00162
NM_001009944.3(PKD1):c.4917C>T (p.Gly1639=) rs148852027 0.00161
NM_138694.4(PKHD1):c.7942G>A (p.Gly2648Ser) rs139555370 0.00158
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 0.00139
NM_138694.4(PKHD1):c.3537T>C (p.Asn1179=) rs141574387 0.00135
NM_001009944.3(PKD1):c.8364G>A (p.Ser2788=) rs145176597 0.00128
NM_001009944.3(PKD1):c.12816C>T (p.Ser4272=) rs199569478 0.00125
NM_138694.4(PKHD1):c.2348G>A (p.Arg783Gln) rs185941281 0.00125
NM_001009944.3(PKD1):c.-109C>T rs1034012323 0.00120
NM_001009944.3(PKD1):c.1281G>A (p.Ala427=) rs141553109 0.00120
NM_138694.4(PKHD1):c.11130C>T (p.Ile3710=) rs146224907 0.00115
NM_138694.4(PKHD1):c.5358C>T (p.Ser1786=) rs78543922 0.00113
NM_000297.4(PKD2):c.441G>A (p.Ala147=) rs866815144 0.00109
NM_001009944.3(PKD1):c.2192C>T (p.Pro731Leu) rs979342927 0.00102
NM_001009944.3(PKD1):c.8298C>T (p.Ser2766=) rs145850037 0.00102
NM_138694.4(PKHD1):c.5478G>A (p.Ala1826=) rs137925439 0.00102
NM_001009944.3(PKD1):c.10678G>A (p.Gly3560Arg) rs79000340 0.00097
NM_001009944.3(PKD1):c.2109C>T (p.His703=) rs527655141 0.00093
NM_138694.4(PKHD1):c.3097+15G>T rs376878007 0.00093
NM_000297.4(PKD2):c.1830G>A (p.Ala610=) rs144968710 0.00091
NM_138694.4(PKHD1):c.9492C>T (p.Ser3164=) rs17752991 0.00084
NM_003361.4(UMOD):c.425G>A (p.Arg142Gln) rs199835347 0.00083
NM_001009944.3(PKD1):c.2039A>T (p.Tyr680Phe) rs370141157 0.00080
NM_001009944.3(PKD1):c.8247G>A (p.Ala2749=) rs143265128 0.00080
NM_138694.4(PKHD1):c.1877A>G (p.Lys626Arg) rs117122807 0.00080
NM_000297.4(PKD2):c.784G>A (p.Val262Met) rs138132026 0.00078
NM_001009944.3(PKD1):c.11376G>C (p.Ser3792=) rs201509188 0.00075
NM_138694.4(PKHD1):c.9215C>T (p.Ala3072Val) rs139306706 0.00073
NM_000297.4(PKD2):c.1354A>G (p.Ile452Val) rs1801612 0.00065
NM_001009944.3(PKD1):c.9569-11C>T rs188641836 0.00064
NM_001009944.3(PKD1):c.3444G>A (p.Pro1148=) rs117955701 0.00061
NM_138694.4(PKHD1):c.7744C>T (p.Pro2582Ser) rs200204857 0.00061
NM_001009944.3(PKD1):c.5318C>T (p.Thr1773Ile) rs140162759 0.00058
NM_138694.4(PKHD1):c.2194G>T (p.Val732Phe) rs201432731 0.00058
NM_001009944.3(PKD1):c.11616G>A (p.Glu3872=) rs370230612 0.00057
NM_138694.4(PKHD1):c.11800G>A (p.Val3934Ile) rs149111536 0.00057
NM_001009944.3(PKD1):c.9156C>T (p.Gly3052=) rs371368338 0.00056
NM_138694.4(PKHD1):c.1675C>T (p.Arg559Trp) rs141384205 0.00055
NM_138694.4(PKHD1):c.3303A>G (p.Thr1101=) rs148335285 0.00052
NM_003361.4(UMOD):c.1464C>T (p.Gly488=) rs141912637 0.00049
NM_001009944.3(PKD1):c.6078C>T (p.Val2026=) rs147253810 0.00047
NM_001009944.3(PKD1):c.10654G>T (p.Ala3552Ser) rs141670808 0.00045
NM_000297.4(PKD2):c.1617G>C (p.Leu539=) rs145297759 0.00044
NM_001009944.3(PKD1):c.7866C>T (p.Tyr2622=) rs181130940 0.00040
NM_138694.4(PKHD1):c.7911+19T>C rs201017366 0.00040
NM_001009944.3(PKD1):c.6606G>A (p.Ala2202=) rs367600795 0.00039
NM_003361.4(UMOD):c.1500A>G (p.Ala500=) rs200895986 0.00037
NM_000297.4(PKD2):c.2829C>T (p.Ser943=) rs138495345 0.00036
NM_001009944.3(PKD1):c.9678C>T (p.Asn3226=) rs138332867 0.00036
NM_138694.4(PKHD1):c.333C>T (p.Phe111=) rs145815264 0.00036
NM_138694.4(PKHD1):c.325G>A (p.Ala109Thr) rs143979330 0.00035
NM_001009944.3(PKD1):c.7490-10C>T rs201304767 0.00032
NM_003361.4(UMOD):c.184A>C (p.Thr62Pro) rs143248111 0.00032
NM_001009944.3(PKD1):c.11652C>T (p.Ser3884=) rs377436997 0.00031
NM_138694.4(PKHD1):c.2168G>T (p.Arg723Leu) rs150597050 0.00029
NM_000297.4(PKD2):c.1546G>T (p.Val516Leu) rs143581690 0.00028
NM_001009944.3(PKD1):c.2527T>C (p.Ser843Pro) rs181738771 0.00027
NM_000297.4(PKD2):c.595+15C>T rs559555727 0.00026
NM_138694.4(PKHD1):c.11400G>A (p.Gly3800=) rs149427926 0.00026
NM_138694.4(PKHD1):c.130+9G>A rs367608402 0.00025
NM_138694.4(PKHD1):c.9493G>A (p.Val3165Met) rs199621305 0.00025
NM_001009944.3(PKD1):c.5457C>T (p.Ala1819=) rs532521117 0.00024
NM_138694.4(PKHD1):c.1257C>T (p.Val419=) rs374650666 0.00024
NM_138694.4(PKHD1):c.3761C>G (p.Ala1254Gly) rs148901752 0.00023
NM_001009944.3(PKD1):c.8162-12G>A rs375993328 0.00022
NM_138694.4(PKHD1):c.9478C>T (p.His3160Tyr) rs147351244 0.00022
NM_001009944.3(PKD1):c.288-20G>A rs572319823 0.00021
NM_003361.4(UMOD):c.1124G>A (p.Arg375Gln) rs151061376 0.00021
NM_001009944.3(PKD1):c.8235T>G (p.Ser2745=) rs556575921 0.00020
NM_003361.4(UMOD):c.1742C>A (p.Thr581Asn) rs143641292 0.00020
NM_001009944.3(PKD1):c.10119G>A (p.Ser3373=) rs376838860 0.00019
NM_001009944.3(PKD1):c.3600G>A (p.Ala1200=) rs372882189 0.00019
NM_138694.4(PKHD1):c.3984C>T (p.Val1328=) rs182468850 0.00019
NM_000297.4(PKD2):c.2286C>T (p.Tyr762=) rs555242193 0.00017
NM_001009944.3(PKD1):c.8640G>A (p.Ser2880=) rs199988586 0.00014
NM_003361.4(UMOD):c.973+7C>T rs557659943 0.00014
NM_138694.4(PKHD1):c.5093A>G (p.Asn1698Ser) rs148108992 0.00014
NM_138694.4(PKHD1):c.812T>A (p.Leu271His) rs750887164 0.00014
NM_138694.4(PKHD1):c.3090G>A (p.Ala1030=) rs557162970 0.00012
NM_138694.4(PKHD1):c.3804C>T (p.Ala1268=) rs201769990 0.00012
NM_138694.4(PKHD1):c.5910G>A (p.Gly1970=) rs200730851 0.00012
NM_000297.4(PKD2):c.2523-7C>T rs199528409 0.00011
NM_001009944.3(PKD1):c.288-32A>G rs56205732 0.00011
NM_138694.4(PKHD1):c.7091T>A (p.Ile2364Asn) rs76260483 0.00011
NM_001009944.3(PKD1):c.9022G>A (p.Val3008Met) rs117896488 0.00010
NM_000297.4(PKD2):c.2814A>G (p.Gln938=) rs573469832 0.00008
NM_001009944.3(PKD1):c.238C>T (p.Arg80Trp) rs551353498 0.00008
NM_003361.4(UMOD):c.1288G>A (p.Asp430Asn) rs200394184 0.00008
NM_001009944.3(PKD1):c.6878C>T (p.Pro2293Leu) rs530832015 0.00006
NM_003361.4(UMOD):c.1623G>T (p.Gly541=) rs562726925 0.00006
NM_003361.4(UMOD):c.974-15C>G rs201798915 0.00006
NM_138694.4(PKHD1):c.5112C>T (p.Cys1704=) rs202010726 0.00006
NM_138694.4(PKHD1):c.7810C>T (p.Arg2604Cys) rs201091083 0.00006
NM_138694.4(PKHD1):c.7977G>A (p.Pro2659=) rs748084543 0.00006
NM_138694.4(PKHD1):c.9629C>G (p.Ser3210Cys) rs141081295 0.00006
NM_138694.4(PKHD1):c.11224G>A (p.Ala3742Thr) rs557211301 0.00005
NM_001009944.3(PKD1):c.1021G>A (p.Ala341Thr) rs2855337 0.00004
NM_003361.4(UMOD):c.1177T>C (p.Leu393=) rs748849021 0.00004
NM_003361.4(UMOD):c.1376G>A (p.Arg459Gln) rs201761378 0.00004
NM_003361.4(UMOD):c.392G>A (p.Gly131Asp) rs368943553 0.00004
NM_001009944.3(PKD1):c.10239C>T (p.Ser3413=) rs150310430 0.00003
NM_138694.4(PKHD1):c.3835G>A (p.Ala1279Thr) rs201611688 0.00003
NM_138694.4(PKHD1):c.2726G>A (p.Arg909Gln) rs201753421 0.00002
NM_000297.4(PKD2):c.1548+9G>C rs376901684 0.00001
NM_000297.4(PKD2):c.2139C>T (p.Val713=) rs200707583 0.00001
NM_000297.4(PKD2):c.2460C>T (p.Ser820=) rs572822238 0.00001
NM_001009944.3(PKD1):c.1488G>T (p.Leu496=) rs1184979922 0.00001
NM_001009944.3(PKD1):c.6771G>A (p.Val2257=) rs770172913 0.00001
NM_001009944.3(PKD1):c.8949-4C>T rs956501802 0.00001
NM_138694.4(PKHD1):c.1929C>A (p.Thr643=) rs775144938 0.00001
NM_138694.4(PKHD1):c.6475G>A (p.Ala2159Thr) rs750822014 0.00001
NM_138694.4(PKHD1):c.7482A>T (p.Gly2494=) rs199996156 0.00001
NM_138694.4(PKHD1):c.7873T>C (p.Leu2625=) rs140033417 0.00001
NM_000297.4(PKD2):c.1477T>C (p.Leu493=)
NM_000297.4(PKD2):c.1587A>T (p.Thr529=) rs375543446
NM_000297.4(PKD2):c.1716+17A>G rs142580445
NM_000297.4(PKD2):c.2118+10del
NM_000297.4(PKD2):c.2164G>T (p.Val722Leu) rs529945469
NM_000297.4(PKD2):c.2340C>T (p.Asp780=)
NM_000297.4(PKD2):c.2571G>A (p.Val857=)
NM_000297.4(PKD2):c.2671-3dup
NM_000297.4(PKD2):c.290AGG[5] (p.Glu102del) rs750077647
NM_000297.4(PKD2):c.290AGG[7] (p.Glu102dup) rs750077647
NM_000297.4(PKD2):c.699C>T (p.Val233=)
NM_000297.4(PKD2):c.843+57T>C rs17786456
NM_001009944.3(PKD1):c.-52C>T rs1051951834
NM_001009944.3(PKD1):c.10050+54A>G rs56149818
NM_001009944.3(PKD1):c.10221-80del rs113824832
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.12139-23C>A rs140765983
NM_001009944.3(PKD1):c.12444+17dup rs547611708
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.4452G>A (p.Pro1484=) rs201988915
NM_001009944.3(PKD1):c.4684C>T (p.Leu1562=) rs114489044
NM_001009944.3(PKD1):c.5882C>T (p.Ala1961Val) rs375440448
NM_001009944.3(PKD1):c.603C>T (p.His201=) rs13334842
NM_001009944.3(PKD1):c.7341G>T (p.Thr2447=) rs573611925
NM_001009944.3(PKD1):c.7734C>T (p.Asn2578=) rs776513110
NM_001009944.3(PKD1):c.7992C>T (p.Ile2664=) rs537012440
NM_001009944.3(PKD1):c.8087T>G (p.Leu2696Arg) rs201238819
NM_001009944.3(PKD1):c.8161+70C>A rs566524677
NM_001009944.3(PKD1):c.8162-37C>T rs9938566
NM_001009944.3(PKD1):c.8200_8204delinsACACT (p.Pro2734_Gln2735delinsThrLeu) rs2092207908
NM_001009944.3(PKD1):c.8791+13G>A rs150064577
NM_001009944.3(PKD1):c.8948+12G>A rs369347070
NM_003361.4(UMOD):c.1372G>T (p.Val458Leu) rs55772253
NM_003361.4(UMOD):c.1458C>T (p.Tyr486=) rs141800038
NM_003361.4(UMOD):c.840C>T (p.Pro280=) rs78691203
NM_016306.6(DNAJB11):c.324-27dup rs11386781
NM_138694.4(PKHD1):c.*3393C>A rs2784198
NM_138694.4(PKHD1):c.10411G>A (p.Val3471Ile) rs553752644
NM_138694.4(PKHD1):c.10737A>G (p.Val3579=) rs555442845
NM_138694.4(PKHD1):c.1088G>A (p.Gly363Glu) rs573293029
NM_138694.4(PKHD1):c.11506+32dup rs376358912
NM_138694.4(PKHD1):c.11507-12del rs771337119
NM_138694.4(PKHD1):c.11507-7G>A rs373438297
NM_138694.4(PKHD1):c.11525G>T (p.Arg3842Leu) rs76572975
NM_138694.4(PKHD1):c.11665+17_11665+18dup
NM_138694.4(PKHD1):c.11665+18del
NM_138694.4(PKHD1):c.11665+9dup rs373325476
NM_138694.4(PKHD1):c.11786-3del rs1451393969
NM_138694.4(PKHD1):c.11786-9del
NM_138694.4(PKHD1):c.1513-3del rs2128209912
NM_138694.4(PKHD1):c.1603-13del
NM_138694.4(PKHD1):c.1603-13dup
NM_138694.4(PKHD1):c.2463C>G (p.Ala821=) rs9474136
NM_138694.4(PKHD1):c.2934G>A (p.Gln978=) rs536715802
NM_138694.4(PKHD1):c.3024C>T (p.Ala1008=) rs559684657
NM_138694.4(PKHD1):c.3791C>G (p.Thr1264Ser)
NM_138694.4(PKHD1):c.449-15TTC[2] rs545812620
NM_138694.4(PKHD1):c.4844C>T (p.Thr1615Met) rs147529495
NM_138694.4(PKHD1):c.5199C>A (p.Thr1733=) rs148790132
NM_138694.4(PKHD1):c.5237-11dup
NM_138694.4(PKHD1):c.528-17dup rs753686281
NM_138694.4(PKHD1):c.528-9del rs753686281
NM_138694.4(PKHD1):c.53-14dup
NM_138694.4(PKHD1):c.6333-13dup rs138161138
NM_138694.4(PKHD1):c.6333-8_6333-7del rs138161138
NM_138694.4(PKHD1):c.707+143A>C rs4711996
NM_138694.4(PKHD1):c.7215+11T>A
NM_138694.4(PKHD1):c.7215+12del
NM_138694.4(PKHD1):c.7215+12dup
NM_138694.4(PKHD1):c.733C>T (p.Leu245=) rs111809699
NM_138694.4(PKHD1):c.7351-15del
NM_138694.4(PKHD1):c.7351-21dup rs768522482
NM_138694.4(PKHD1):c.7486+41C>A rs982874
NM_138694.4(PKHD1):c.7734-20del
NM_138694.4(PKHD1):c.7734-27_7734-26dup rs201176305
NM_138694.4(PKHD1):c.7734-27dup rs201176305
NM_138694.4(PKHD1):c.778+12del
NM_138694.4(PKHD1):c.779-25dup rs5876252
NM_138694.4(PKHD1):c.786A>G (p.Leu262=) rs570064466
NM_138694.4(PKHD1):c.8174-18dup rs566540835
NM_138694.4(PKHD1):c.8174-19dup
NM_138694.4(PKHD1):c.8555-16C>A

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