ClinVar Miner

List of variants in gene PKD1 reported by Athena Diagnostics Inc

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 216
Download table as spreadsheet
HGVS dbSNP
NM_000296.3(PKD1):c.8019dup (p.Pro2674Alafs) rs1555452047
NM_001009944.3(PKD1):c.10026dup (p.Leu3343fs) rs1567169118
NM_001009944.3(PKD1):c.10043G>A (p.Arg3348Gln) rs146494724
NM_001009944.3(PKD1):c.10080C>T (p.Ala3360=) rs149924232
NM_001009944.3(PKD1):c.10084C>T (p.Gln3362Ter) rs1567166045
NM_001009944.3(PKD1):c.10167+25_10167+43del rs1197421698
NM_001009944.3(PKD1):c.1023C>T (p.Ala341=) rs11643513
NM_001009944.3(PKD1):c.10320_10337delinsATGGCC (p.Gln3441_Leu3446delinsTrpPro) rs1555448280
NM_001009944.3(PKD1):c.10417_10419delinsT (p.Ile3473fs) rs1567164013
NM_001009944.3(PKD1):c.1123C>A (p.Leu375Ile)
NM_001009944.3(PKD1):c.11713-1G>A rs867092741
NM_001009944.3(PKD1):c.11713-2A>G rs1555445274
NM_001009944.3(PKD1):c.11713-3C>G rs754015180
NM_001009944.3(PKD1):c.11743G>C (p.Ala3915Pro) rs1555445237
NM_001009944.3(PKD1):c.11852T>A (p.Val3951Glu) rs1555445164
NM_001009944.3(PKD1):c.11916C>T (p.Arg3972=) rs77634115
NM_001009944.3(PKD1):c.11944C>T (p.Gln3982Ter) rs1161012209
NM_001009944.3(PKD1):c.11957C>T (p.Ala3986Val) rs528213425
NM_001009944.3(PKD1):c.11961C>T (p.Ala3987=) rs116236042
NM_001009944.3(PKD1):c.11976C>G (p.Ala3992=) rs112387277
NM_001009944.3(PKD1):c.12003+14_12003+33del rs1567148835
NM_001009944.3(PKD1):c.12031C>T (p.Gln4011Ter) rs1555444985
NM_001009944.3(PKD1):c.12037T>C (p.Ser4013Pro) rs1555444981
NM_001009944.3(PKD1):c.12133A>G (p.Ile4045Val) rs10960
NM_001009944.3(PKD1):c.12139-5C>T rs146430229
NM_001009944.3(PKD1):c.12176C>T (p.Ala4059Val) rs3209986
NM_001009944.3(PKD1):c.12276A>G (p.Ala4092=) rs3087632
NM_001009944.3(PKD1):c.12407G>A (p.Arg4136Lys) rs768391524
NM_001009944.3(PKD1):c.12409C>T (p.Leu4137=) rs79899502
NM_001009944.3(PKD1):c.12436G>A (p.Val4146Ile) rs148478410
NM_001009944.3(PKD1):c.12630T>C (p.Pro4210=) rs7203729
NM_001009944.3(PKD1):c.12697A>C (p.Thr4233Pro) rs1230641065
NM_001009944.3(PKD1):c.12769G>A (p.Gly4257Arg) rs369397443
NM_001009944.3(PKD1):c.12803C>T (p.Pro4268Leu) rs767385060
NM_001009944.3(PKD1):c.12827G>A (p.Arg4276Gln) rs1188304476
NM_001009944.3(PKD1):c.12853A>G (p.Thr4285Ala) rs1341672915
NM_001009944.3(PKD1):c.12888C>G (p.Asn4296Lys)
NM_001009944.3(PKD1):c.1306T>C (p.Cys436Arg) rs1555458892
NM_001009944.3(PKD1):c.1323G>A (p.Gly441=) rs145776888
NM_001009944.3(PKD1):c.1326C>T (p.Ala442=) rs376607683
NM_001009944.3(PKD1):c.1348C>A (p.Pro450Thr) rs757107371
NM_001009944.3(PKD1):c.1396G>A (p.Val466Met) rs2855341
NM_001009944.3(PKD1):c.1543G>A (p.Gly515Arg) rs1555458704
NM_001009944.3(PKD1):c.1557C>T (p.Thr519=) rs561467860
NM_001009944.3(PKD1):c.1591G>A (p.Glu531Lys) rs1567215326
NM_001009944.3(PKD1):c.1598A>G (p.Gln533Arg) rs2855342
NM_001009944.3(PKD1):c.1602C>T (p.Pro534=) rs759092782
NM_001009944.3(PKD1):c.165_171del (p.Leu56fs) rs1555462438
NM_001009944.3(PKD1):c.1710C>T (p.His570=) rs367983387
NM_001009944.3(PKD1):c.1714C>T (p.Pro572Ser) rs149022148
NM_001009944.3(PKD1):c.182C>T (p.Pro61Leu) rs886038369
NM_001009944.3(PKD1):c.1890G>A (p.Pro630=) rs1344519371
NM_001009944.3(PKD1):c.1894A>G (p.Asn632Asp)
NM_001009944.3(PKD1):c.2109C>T (p.His703=) rs527655141
NM_001009944.3(PKD1):c.214C>T (p.Leu72=) rs972113626
NM_001009944.3(PKD1):c.2180T>A (p.Leu727Gln)
NM_001009944.3(PKD1):c.2180T>C (p.Leu727Pro)
NM_001009944.3(PKD1):c.2192C>T (p.Pro731Leu)
NM_001009944.3(PKD1):c.2214C>G (p.Pro738=) rs543166733
NM_001009944.3(PKD1):c.2266G>A (p.Ala756Thr)
NM_001009944.3(PKD1):c.2269C>T (p.Gln757Ter)
NM_001009944.3(PKD1):c.238C>T (p.Arg80Trp)
NM_001009944.3(PKD1):c.239G>A (p.Arg80Gln) rs1190107349
NM_001009944.3(PKD1):c.2534T>C (p.Leu845Ser) rs199476100
NM_001009944.3(PKD1):c.2643C>T (p.Phe881=)
NM_001009944.3(PKD1):c.2677_2678del (p.Leu893fs) rs1567210080
NM_001009944.3(PKD1):c.2694A>C (p.Ala898=) rs142357713
NM_001009944.3(PKD1):c.2700G>A (p.Pro900=) rs35667726
NM_001009944.3(PKD1):c.2730C>T (p.Asp910=) rs35965348
NM_001009944.3(PKD1):c.276G>A (p.Ala92=) rs374518168
NM_001009944.3(PKD1):c.2804_2829del (p.Leu935fs) rs1567209616
NM_001009944.3(PKD1):c.2854-5C>T rs114846412
NM_001009944.3(PKD1):c.2867dup (p.Val957fs) rs1567208136
NM_001009944.3(PKD1):c.3007_3024dup (p.Ser1003_Asn1008dup) rs1555457321
NM_001009944.3(PKD1):c.3022_3039del (p.Asn1008_Val1013del) rs1567207029
NM_001009944.3(PKD1):c.3063T>C (p.Gly1021=) rs2369068
NM_001009944.3(PKD1):c.3069G>C (p.Gln1023His)
NM_001009944.3(PKD1):c.3111A>G (p.Leu1037=) rs2099534
NM_001009944.3(PKD1):c.3247_3253del (p.Ala1083fs) rs1567205637
NM_001009944.3(PKD1):c.3275T>C (p.Met1092Thr) rs2549677
NM_001009944.3(PKD1):c.3277C>T (p.His1093Tyr) rs146352591
NM_001009944.3(PKD1):c.3296-1G>C rs1567204631
NM_001009944.3(PKD1):c.3372C>T (p.Ala1124=) rs75510884
NM_001009944.3(PKD1):c.3375C>T (p.Ser1125=) rs74331768
NM_001009944.3(PKD1):c.3390T>G (p.Ala1130=) rs769998736
NM_001009944.3(PKD1):c.3502C>T (p.Pro1168Ser) rs146887330
NM_001009944.3(PKD1):c.3513C>G (p.Thr1171=) rs143784787
NM_001009944.3(PKD1):c.3600G>A (p.Ala1200=)
NM_001009944.3(PKD1):c.3601_3620del (p.Ala1201fs)
NM_001009944.3(PKD1):c.3644T>C (p.Leu1215Pro) rs1555456557
NM_001009944.3(PKD1):c.3716_3718ACA[1] (p.Asn1240del) rs1567202750
NM_001009944.3(PKD1):c.3731C>T (p.Thr1244Ile)
NM_001009944.3(PKD1):c.3785A>G (p.His1262Arg) rs1057518976
NM_001009944.3(PKD1):c.3G>A (p.Met1Ile) rs1567233098
NM_001009944.3(PKD1):c.4008C>A (p.Asn1336Lys)
NM_001009944.3(PKD1):c.4018C>T (p.Arg1340Trp) rs143690392
NM_001009944.3(PKD1):c.4071G>T (p.Leu1357=) rs145737766
NM_001009944.3(PKD1):c.4072G>C (p.Ala1358Pro) rs1567201469
NM_001009944.3(PKD1):c.4161_4162AG[2] (p.Arg1389fs) rs1555456208
NM_001009944.3(PKD1):c.4270A>G (p.Thr1424Ala) rs2239671
NM_001009944.3(PKD1):c.4444C>T (p.Gln1482Ter) rs1567200117
NM_001009944.3(PKD1):c.461C>T (p.Thr154Met) rs1441482246
NM_001009944.3(PKD1):c.4654G>A (p.Val1552Ile)
NM_001009944.3(PKD1):c.4674G>A (p.Thr1558=) rs79884128
NM_001009944.3(PKD1):c.4720G>A (p.Ala1574Thr) rs767157522
NM_001009944.3(PKD1):c.4845C>T (p.Asn1615=) rs141557400
NM_001009944.3(PKD1):c.4894_4901dup (p.Leu1635_Gln1636insTer) rs1567198410
NM_001009944.3(PKD1):c.4917C>T (p.Gly1639=) rs148852027
NM_001009944.3(PKD1):c.5014_5015del (p.Arg1672fs) rs1555455457
NM_001009944.3(PKD1):c.5080C>T (p.His1694Tyr)
NM_001009944.3(PKD1):c.5093G>A (p.Arg1698Gln) rs569887918
NM_001009944.3(PKD1):c.5125G>A (p.Asp1709Asn) rs1199050207
NM_001009944.3(PKD1):c.5142C>T (p.Phe1714=)
NM_001009944.3(PKD1):c.5209A>G (p.Thr1737Ala)
NM_001009944.3(PKD1):c.5245del (p.Val1749fs) rs1555455279
NM_001009944.3(PKD1):c.5372A>C (p.Asn1791Thr) rs1335408319
NM_001009944.3(PKD1):c.5453C>T (p.Ala1818Val) rs746910149
NM_001009944.3(PKD1):c.565T>G (p.Ser189Ala) rs1555459201
NM_001009944.3(PKD1):c.5665G>A (p.Gly1889Ser)
NM_001009944.3(PKD1):c.5763G>A (p.Leu1921=) rs2575313
NM_001009944.3(PKD1):c.5811C>G (p.Ser1937=)
NM_001009944.3(PKD1):c.5830G>A (p.Gly1944Arg) rs200001471
NM_001009944.3(PKD1):c.5847C>T (p.Ser1949=) rs80111665
NM_001009944.3(PKD1):c.588C>T (p.Ser196=) rs776302294
NM_001009944.3(PKD1):c.5913delinsACC (p.Ser1972fs) rs1567194928
NM_001009944.3(PKD1):c.603C>T (p.His201=) rs13334842
NM_001009944.3(PKD1):c.6065C>T (p.Ser2022Leu) rs781681199
NM_001009944.3(PKD1):c.6124G>A (p.Ala2042Thr) rs556681288
NM_001009944.3(PKD1):c.6193del (p.Ala2065fs) rs1555454620
NM_001009944.3(PKD1):c.6297G>T (p.Gly2099=) rs137925121
NM_001009944.3(PKD1):c.6487C>T (p.Arg2163Ter) rs1555454411
NM_001009944.3(PKD1):c.6488G>A (p.Arg2163Gln) rs145217118
NM_001009944.3(PKD1):c.6545A>G (p.Gln2182Arg) rs147685291
NM_001009944.3(PKD1):c.6573C>T (p.Arg2191=) rs949370419
NM_001009944.3(PKD1):c.6587_6593dup (p.Gly2199fs) rs1567192229
NM_001009944.3(PKD1):c.6665C>T (p.Ala2222Val) rs148496347
NM_001009944.3(PKD1):c.6725_6726CA[1] (p.Gln2243fs) rs1567191601
NM_001009944.3(PKD1):c.6727C>T (p.Gln2243Ter) rs1567191609
NM_001009944.3(PKD1):c.6749C>T (p.Thr2250Met) rs139971481
NM_001009944.3(PKD1):c.6827T>C (p.Leu2276Pro) rs1567191044
NM_001009944.3(PKD1):c.6836G>A (p.Ser2279Asn) rs368363458
NM_001009944.3(PKD1):c.689G>C (p.Cys230Ser) rs1255640370
NM_001009944.3(PKD1):c.6965C>T (p.Thr2322Met) rs564570407
NM_001009944.3(PKD1):c.7077G>C (p.Arg2359=) rs4018162
NM_001009944.3(PKD1):c.7107_7108GT[3] (p.Ser2372fs) rs1567187389
NM_001009944.3(PKD1):c.7126C>T (p.Gln2376Ter) rs1555453395
NM_001009944.3(PKD1):c.7164C>G (p.Tyr2388Ter) rs1555453372
NM_001009944.3(PKD1):c.7169_7171del (p.Glu2390del) rs1555453367
NM_001009944.3(PKD1):c.7170G>A (p.Glu2390=) rs1567187083
NM_001009944.3(PKD1):c.7204C>T (p.Arg2402Ter) rs1567186946
NM_001009944.3(PKD1):c.7278T>C (p.Ser2426=) rs2575311
NM_001009944.3(PKD1):c.7316G>A (p.Arg2439Gln) rs201021499
NM_001009944.3(PKD1):c.74G>T (p.Gly25Val) rs972049140
NM_001009944.3(PKD1):c.7544G>C (p.Arg2515Pro)
NM_001009944.3(PKD1):c.755C>G (p.Pro252Arg) rs771788496
NM_001009944.3(PKD1):c.7605C>T (p.Tyr2535=)
NM_001009944.3(PKD1):c.7642G>C (p.Glu2548Gln) rs28369051
NM_001009944.3(PKD1):c.7704-2_7712del rs1555452738
NM_001009944.3(PKD1):c.7714A>G (p.Ile2572Val) rs1555452734
NM_001009944.3(PKD1):c.776G>A (p.Cys259Tyr) rs529066905
NM_001009944.3(PKD1):c.7782_7783TG[3] (p.Leu2596fs) rs1567183633
NM_001009944.3(PKD1):c.7810G>A (p.Asp2604Asn) rs778565182
NM_001009944.3(PKD1):c.7918G>T (p.Ala2640Ser)
NM_001009944.3(PKD1):c.7946C>T (p.Thr2649Ile) rs1490043027
NM_001009944.3(PKD1):c.8017-2A>G rs1567180640
NM_001009944.3(PKD1):c.8017-2_8017-1del rs1567180636
NM_001009944.3(PKD1):c.8037A>G (p.Val2679=) rs139752541
NM_001009944.3(PKD1):c.8046G>A (p.Ser2682=)
NM_001009944.3(PKD1):c.8111C>T (p.Ala2704Val) rs200509641
NM_001009944.3(PKD1):c.8123C>T (p.Thr2708Met) rs147350387
NM_001009944.3(PKD1):c.8136C>T (p.Ile2712=) rs754894798
NM_001009944.3(PKD1):c.8162-1G>A rs1555451430
NM_001009944.3(PKD1):c.8218G>T (p.Gly2740Ter) rs1555451368
NM_001009944.3(PKD1):c.8246C>T (p.Ala2749Val) rs773014664
NM_001009944.3(PKD1):c.8247G>A (p.Ala2749=) rs143265128
NM_001009944.3(PKD1):c.8305C>T (p.Leu2769Phe) rs771382752
NM_001009944.3(PKD1):c.8311G>A (p.Glu2771Lys) rs1057518897
NM_001009944.3(PKD1):c.8333del (p.Gly2778fs) rs1567178000
NM_001009944.3(PKD1):c.8364G>A (p.Ser2788=) rs145176597
NM_001009944.3(PKD1):c.8369C>T (p.Pro2790Leu) rs769345341
NM_001009944.3(PKD1):c.837G>A (p.Gly279=) rs372124319
NM_001009944.3(PKD1):c.8439C>T (p.Ser2813=) rs117856830
NM_001009944.3(PKD1):c.8444C>T (p.Ala2815Val) rs183084156
NM_001009944.3(PKD1):c.8483T>C (p.Leu2828Pro) rs1555451143
NM_001009944.3(PKD1):c.849_855TCTGGCC[1] (p.Ser286_Gly287insTer) rs1555459108
NM_001009944.3(PKD1):c.8545del (p.Ala2849fs) rs1555451093
NM_001009944.3(PKD1):c.8611G>A (p.Ala2871Thr) rs556305338
NM_001009944.3(PKD1):c.8640G>A (p.Ser2880=)
NM_001009944.3(PKD1):c.8644T>A (p.Trp2882Arg) rs13333553
NM_001009944.3(PKD1):c.8663G>A (p.Arg2888His) rs200168879
NM_001009944.3(PKD1):c.8679C>G (p.Ser2893=) rs114143642
NM_001009944.3(PKD1):c.8704C>T (p.Gln2902Ter) rs1555450968
NM_001009944.3(PKD1):c.8751G>A (p.Ala2917=) rs746333408
NM_001009944.3(PKD1):c.8830G>T (p.Val2944Phe) rs1555450761
NM_001009944.3(PKD1):c.8898G>C (p.Glu2966Asp) rs13337123
NM_001009944.3(PKD1):c.8911G>A (p.Ala2971Thr) rs1555450667
NM_001009944.3(PKD1):c.8913T>C (p.Ala2971=) rs9926309
NM_001009944.3(PKD1):c.8964G>A (p.Ala2988=) rs76184385
NM_001009944.3(PKD1):c.8972dup (p.Tyr2991Ter) rs1567174997
NM_001009944.3(PKD1):c.8978T>C (p.Leu2993Pro) rs1555450487
NM_001009944.3(PKD1):c.9009G>A (p.Ala3003=) rs374619113
NM_001009944.3(PKD1):c.9065_9070del (p.Asp3022_Met3023del) rs1555450426
NM_001009944.3(PKD1):c.924_948delinsTGGAT (p.Asp309fs) rs1555459056
NM_001009944.3(PKD1):c.9330T>C (p.Pro3110=) rs12926160
NM_001009944.3(PKD1):c.9404C>T (p.Thr3135Met) rs1555449635
NM_001009944.3(PKD1):c.9412dup (p.Val3138fs) rs1567171493
NM_001009944.3(PKD1):c.9451C>T (p.His3151Tyr)
NM_001009944.3(PKD1):c.9454C>T (p.Arg3152Trp)
NM_001009944.3(PKD1):c.9499A>T (p.Ile3167Phe) rs139945204
NM_001009944.3(PKD1):c.9669G>A (p.Thr3223=) rs144817614
NM_001009944.3(PKD1):c.9674_9700del (p.Ala3225_Glu3233del) rs1555449461
NM_001009944.3(PKD1):c.9724C>G (p.Leu3242Val) rs780284563
NM_001009944.3(PKD1):c.9795C>T (p.Ser3265=)
NM_001009944.3(PKD1):c.9815G>A (p.Arg3272His) rs1452116333
NM_001009944.3(PKD1):c.9841G>A (p.Ala3281Thr) rs1210319842
NM_001009944.3(PKD1):c.997G>A (p.Val333Met) rs772316684

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.