ClinVar Miner

List of variants in gene PKD1 reported as uncertain significance for Polycystic kidney disease

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 143
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001009944.3(PKD1):c.9499A>T (p.Ile3167Phe) rs139945204 0.00125
NM_001009944.3(PKD1):c.11965G>A (p.Gly3989Ser) rs200279710 0.00076
NM_001009944.3(PKD1):c.8161+5C>T rs534696523 0.00061
NM_001009944.3(PKD1):c.2431C>G (p.Leu811Val) rs137928037 0.00058
NM_001009944.3(PKD1):c.8129C>A (p.Thr2710Asn) rs199700485 0.00049
NM_001009944.3(PKD1):c.9718G>A (p.Ala3240Thr) rs143312683 0.00044
NM_001009944.3(PKD1):c.7937T>C (p.Ile2646Thr) rs374500158 0.00029
NM_001009944.3(PKD1):c.4015G>A (p.Val1339Met) rs147141131 0.00024
NM_001009944.3(PKD1):c.10363C>T (p.Leu3455=) rs114102239 0.00022
NM_001009944.3(PKD1):c.4052G>A (p.Arg1351Gln) rs374129201 0.00022
NM_001009944.3(PKD1):c.6395T>G (p.Phe2132Cys) rs150154235 0.00020
NM_001009944.3(PKD1):c.9548G>A (p.Arg3183Gln) rs79648977 0.00020
NM_001009944.3(PKD1):c.8294G>A (p.Arg2765His) rs375198888 0.00017
NM_001009944.3(PKD1):c.5758C>T (p.Arg1920Cys) rs185746648 0.00014
NM_001009944.3(PKD1):c.10643G>A (p.Arg3548His) rs62624465 0.00011
NM_001009944.3(PKD1):c.1557C>T (p.Thr519=) rs561467860 0.00011
NM_001009944.3(PKD1):c.6185A>T (p.Gln2062Leu) rs201062488 0.00011
NM_001009944.3(PKD1):c.8755G>A (p.Gly2919Arg) rs139438157 0.00011
NM_001009944.3(PKD1):c.3486C>G (p.Asp1162Glu) rs144211349 0.00010
NM_001009944.3(PKD1):c.4220C>T (p.Pro1407Leu) rs140412120 0.00010
NM_001009944.3(PKD1):c.12473T>C (p.Met4158Thr) rs201035636 0.00009
NM_001009944.3(PKD1):c.5704G>A (p.Gly1902Arg) rs370479407 0.00009
NM_001009944.3(PKD1):c.12089C>T (p.Thr4030Ile) rs751776839 0.00008
NM_001009944.3(PKD1):c.10101C>T (p.Ile3367=) rs535964972 0.00007
NM_001009944.3(PKD1):c.413G>A (p.Arg138Gln) rs2515725 0.00007
NM_001009944.3(PKD1):c.11627C>T (p.Ala3876Val) rs759962601 0.00006
NM_001009944.3(PKD1):c.12171C>T (p.Ser4057=) rs140154490 0.00006
NM_001009944.3(PKD1):c.8146A>G (p.Ile2716Val) rs1353004865 0.00006
NM_001009944.3(PKD1):c.8963C>T (p.Ala2988Val) rs765076655 0.00006
NM_001009944.3(PKD1):c.8191G>A (p.Val2731Met) rs138906895 0.00005
NM_001009944.3(PKD1):c.9136C>T (p.Arg3046Cys) rs773857360 0.00005
NM_001009944.3(PKD1):c.3714C>T (p.Gly1238=) rs769745056 0.00004
NM_001009944.3(PKD1):c.4632G>A (p.Val1544=) rs142035983 0.00004
NM_001009944.3(PKD1):c.6091G>A (p.Val2031Met) rs765389584 0.00004
NM_001009944.3(PKD1):c.8002C>G (p.Leu2668Val) rs761726794 0.00004
NM_001009944.3(PKD1):c.2396G>A (p.Arg799Gln) rs766489466 0.00003
NM_001009944.3(PKD1):c.6048C>G (p.Asp2016Glu) rs767363184 0.00003
NM_001009944.3(PKD1):c.6440G>A (p.Arg2147Gln) rs771035065 0.00003
NM_001009944.3(PKD1):c.7818G>C (p.Gln2606His) rs753798096 0.00003
NM_001009944.3(PKD1):c.9398-8C>T rs781378410 0.00003
NM_001009944.3(PKD1):c.11156+4C>T rs1417376349 0.00002
NM_001009944.3(PKD1):c.360-5T>C rs4018168 0.00002
NM_001009944.3(PKD1):c.773C>T (p.Thr258Ile) rs754889452 0.00002
NM_001009944.3(PKD1):c.8366A>G (p.Asp2789Gly) rs772565411 0.00002
NM_001009944.3(PKD1):c.10001A>G (p.Tyr3334Cys) rs1287231217 0.00001
NM_001009944.3(PKD1):c.10726G>A (p.Val3576Met) rs1483830437 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.2882C>T (p.Ser961Leu) rs1409614100 0.00001
NM_001009944.3(PKD1):c.3080T>G (p.Val1027Gly) rs377725958 0.00001
NM_001009944.3(PKD1):c.3873C>G (p.Val1291=) rs753464188 0.00001
NM_001009944.3(PKD1):c.3920C>T (p.Thr1307Met) rs527659927 0.00001
NM_001009944.3(PKD1):c.4736G>C (p.Arg1579Pro) rs541777274 0.00001
NM_001009944.3(PKD1):c.5297T>G (p.Phe1766Cys) rs767720073 0.00001
NM_001009944.3(PKD1):c.6527G>A (p.Arg2176His) rs777123546 0.00001
NM_001009944.3(PKD1):c.8043C>G (p.Arg2681=) rs1040303746 0.00001
NM_001009944.3(PKD1):c.8497C>T (p.Pro2833Ser) rs1057523051 0.00001
NM_001009944.3(PKD1):c.8504C>T (p.Pro2835Leu) rs2575317 0.00001
NM_001009944.3(PKD1):c.9885C>T (p.Asn3295=) rs764028566 0.00001
NM_001009944.3(PKD1):c.10051-10C>A rs3874642
NM_001009944.3(PKD1):c.10349A>G (p.Glu3450Gly) rs1321795630
NM_001009944.3(PKD1):c.10619-12_10619-11del rs1287879038
NM_001009944.3(PKD1):c.10657T>G (p.Trp3553Gly) rs1349398113
NM_001009944.3(PKD1):c.11242C>T (p.Arg3748Trp) rs2091642915
NM_001009944.3(PKD1):c.11249G>A (p.Arg3750Gln) rs1327414405
NM_001009944.3(PKD1):c.11257C>T (p.Arg3753Trp) rs1167476946
NM_001009944.3(PKD1):c.11410G>A (p.Gly3804Arg) rs2091612949
NM_001009944.3(PKD1):c.11412-7C>G rs553377243
NM_001009944.3(PKD1):c.11538-10C>A rs377419559
NM_001009944.3(PKD1):c.1154T>C (p.Leu385Pro) rs2092665731
NM_001009944.3(PKD1):c.11768A>C (p.His3923Pro) rs1472012498
NM_001009944.3(PKD1):c.11831T>C (p.Leu3944Pro) rs2091494966
NM_001009944.3(PKD1):c.12048C>T (p.Gly4016=) rs756122519
NM_001009944.3(PKD1):c.12062G>A (p.Arg4021Gln) rs1487111123
NM_001009944.3(PKD1):c.12165C>T (p.Leu4055=) rs375183934
NM_001009944.3(PKD1):c.12382G>A (p.Glu4128Lys) rs1596473289
NM_001009944.3(PKD1):c.12448C>T (p.Arg4150Cys) rs1282668884
NM_001009944.3(PKD1):c.12781G>A (p.Gly4261Ser) rs2091385750
NM_001009944.3(PKD1):c.12824C>T (p.Ala4275Val) rs1211572683
NM_001009944.3(PKD1):c.1379T>G (p.Val460Gly) rs2092659177
NM_001009944.3(PKD1):c.1385+12del rs1357257296
NM_001009944.3(PKD1):c.1385+13del rs2092658494
NM_001009944.3(PKD1):c.1396G>A (p.Val466Met) rs2855341
NM_001009944.3(PKD1):c.1817G>C (p.Arg606Pro) rs2092629034
NM_001009944.3(PKD1):c.1827G>A (p.Val609=) rs905577227
NM_001009944.3(PKD1):c.2076G>A (p.Ala692=) rs1317987043
NM_001009944.3(PKD1):c.2306T>G (p.Leu769Arg) rs2092600592
NM_001009944.3(PKD1):c.2438G>T (p.Cys813Phe) rs2092598008
NM_001009944.3(PKD1):c.2452G>C (p.Val818Leu) rs2092597752
NM_001009944.3(PKD1):c.2498A>G (p.Asp833Gly) rs1354266181
NM_001009944.3(PKD1):c.2879G>A (p.Gly960Asp) rs1567208088
NM_001009944.3(PKD1):c.288-6_288-5del rs2092684439
NM_001009944.3(PKD1):c.2986-12del rs2092557921
NM_001009944.3(PKD1):c.2992G>C (p.Ala998Pro) rs2092557509
NM_001009944.3(PKD1):c.301A>G (p.Asn101Asp) rs2092684149
NM_001009944.3(PKD1):c.3212A>C (p.Tyr1071Ser) rs2092538545
NM_001009944.3(PKD1):c.3437_3439del (p.Phe1146del) rs1320867301
NM_001009944.3(PKD1):c.3486_3489delinsGTTT (p.Asp1162Glu) rs2092509681
NM_001009944.3(PKD1):c.4039C>G (p.His1347Asp) rs774648280
NM_001009944.3(PKD1):c.4082T>C (p.Leu1361Pro) rs2092490160
NM_001009944.3(PKD1):c.4328T>G (p.Val1443Gly) rs2092482898
NM_001009944.3(PKD1):c.4346ACA[1] (p.Asn1450del) rs2092482302
NM_001009944.3(PKD1):c.4825ATC[1] (p.Ile1610del) rs1567198691
NM_001009944.3(PKD1):c.4982A>T (p.Asn1661Ile) rs1440789964
NM_001009944.3(PKD1):c.5294C>T (p.Pro1765Leu) rs577487876
NM_001009944.3(PKD1):c.5753C>T (p.Thr1918Ile) rs878915702
NM_001009944.3(PKD1):c.5921T>G (p.Leu1974Arg) rs2092439627
NM_001009944.3(PKD1):c.5976_5978del (p.Phe1992_Thr1993delinsLeu) rs2092438025
NM_001009944.3(PKD1):c.6062T>C (p.Leu2021Pro) rs2092435927
NM_001009944.3(PKD1):c.6179C>G (p.Ala2060Gly) rs753999046
NM_001009944.3(PKD1):c.6323_6334del (p.Pro2108_Glu2111del) rs2092427430
NM_001009944.3(PKD1):c.6658C>T (p.Arg2220Trp) rs769509393
NM_001009944.3(PKD1):c.6714C>G (p.Asp2238Glu) rs2092416905
NM_001009944.3(PKD1):c.6826C>G (p.Leu2276Val) rs2092413572
NM_001009944.3(PKD1):c.6831T>A (p.Asp2277Glu) rs2092413339
NM_001009944.3(PKD1):c.7066-10C>G rs776383013
NM_001009944.3(PKD1):c.7265C>A (p.Thr2422Lys) rs1555453210
NM_001009944.3(PKD1):c.7350G>T (p.Val2450=) rs2092342494
NM_001009944.3(PKD1):c.7375G>T (p.Gly2459Cys) rs1555453102
NM_001009944.3(PKD1):c.7828G>A (p.Glu2610Lys) rs774694720
NM_001009944.3(PKD1):c.7843C>T (p.Leu2615=) rs771676768
NM_001009944.3(PKD1):c.8017-11G>A rs2092264285
NM_001009944.3(PKD1):c.8087T>C (p.Leu2696Pro) rs201238819
NM_001009944.3(PKD1):c.8091_8093del (p.Ile2697_Leu2698delinsMet) rs2092261350
NM_001009944.3(PKD1):c.8138G>A (p.Gly2713Glu) rs1395231369
NM_001009944.3(PKD1):c.8156T>C (p.Ile2719Thr) rs2092259288
NM_001009944.3(PKD1):c.8184C>T (p.Ser2728=) rs772197330
NM_001009944.3(PKD1):c.8279T>C (p.Met2760Thr) rs879809222
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.8308_8310del (p.Asn2770del) rs2092203060
NM_001009944.3(PKD1):c.8423T>A (p.Ile2808Asn) rs1567177764
NM_001009944.3(PKD1):c.8459G>T (p.Ser2820Ile) rs750662535
NM_001009944.3(PKD1):c.8672CCAACTCCG[1] (p.2891ANS[1]) rs763199524
NM_001009944.3(PKD1):c.8702C>T (p.Pro2901Leu) rs2092181383
NM_001009944.3(PKD1):c.9155G>T (p.Gly3052Val) rs769436046
NM_001009944.3(PKD1):c.9251G>A (p.Cys3084Tyr) rs2092123424
NM_001009944.3(PKD1):c.9401C>T (p.Thr3134Ile) rs2092053154
NM_001009944.3(PKD1):c.9404C>T (p.Thr3135Met) rs1555449635
NM_001009944.3(PKD1):c.9512C>T (p.Ala3171Val) rs2092048001
NM_001009944.3(PKD1):c.974A>G (p.Tyr325Cys) rs1232180956
NM_001009944.3(PKD1):c.9758T>A (p.Leu3253Gln) rs2092025452
NM_001009944.3(PKD1):c.9991G>A (p.Val3331Met) rs541894980

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.