ClinVar Miner

List of variants in gene PKD1 reported as uncertain significance

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Gene type:
ClinVar version:
Total variants: 255
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HGVS dbSNP
NM_001009944.3(PKD1):c.10027C>T (p.Leu3343Phe) rs1158465434
NM_001009944.3(PKD1):c.10042C>T (p.Arg3348Trp) rs769208706
NM_001009944.3(PKD1):c.10043G>A (p.Arg3348Gln) rs146494724
NM_001009944.3(PKD1):c.10165G>A (p.Glu3389Lys) rs756738297
NM_001009944.3(PKD1):c.10303C>T (p.Arg3435Trp) rs562831339
NM_001009944.3(PKD1):c.10315C>T (p.Arg3439Trp) rs374486955
NM_001009944.3(PKD1):c.10320_10337delinsATGGCC (p.Gln3441_Leu3446delinsTrpPro) rs1555448280
NM_001009944.3(PKD1):c.10407T>A (p.Asp3469Glu)
NM_001009944.3(PKD1):c.1047_1049del (p.Asp349_Val350delinsGlu) rs1567217173
NM_001009944.3(PKD1):c.1075C>G (p.Leu359Val) rs1057524759
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.11868_11869insACT (p.Gly3957_Ala3958insThr) rs1567149662
NM_001009944.3(PKD1):c.11875G>C (p.Ala3959Pro) rs756245085
NM_001009944.3(PKD1):c.11880C>A (p.Asp3960Glu)
NM_001009944.3(PKD1):c.11957C>T (p.Ala3986Val) rs528213425
NM_001009944.3(PKD1):c.11986_12000del (p.Phe3996_Val4000del) rs1567148933
NM_001009944.3(PKD1):c.12003+14_12003+33del rs1567148835
NM_001009944.3(PKD1):c.12003+5G>T
NM_001009944.3(PKD1):c.12014A>G (p.Gln4005Arg) rs760873748
NM_001009944.3(PKD1):c.1202-8G>A rs560799680
NM_001009944.3(PKD1):c.12037T>C (p.Ser4013Pro) rs1555444981
NM_001009944.3(PKD1):c.12139-3C>G
NM_001009944.3(PKD1):c.12146C>T (p.Ser4049Phe) rs757666977
NM_001009944.3(PKD1):c.12149C>T (p.Ser4050Phe) rs186160250
NM_001009944.3(PKD1):c.12407G>A (p.Arg4136Lys) rs768391524
NM_001009944.3(PKD1):c.12425G>T (p.Gly4142Val) rs757407982
NM_001009944.3(PKD1):c.12640C>T (p.Arg4214Cys) rs569380424
NM_001009944.3(PKD1):c.12643C>T (p.Leu4215Phe) rs757068311
NM_001009944.3(PKD1):c.12697A>C (p.Thr4233Pro) rs1230641065
NM_001009944.3(PKD1):c.127C>G (p.Pro43Ala) rs1114167365
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.1325C>T (p.Ala442Val)
NM_001009944.3(PKD1):c.1348C>A (p.Pro450Thr) rs757107371
NM_001009944.3(PKD1):c.1384A>G (p.Arg462Gly) rs1555458865
NM_001009944.3(PKD1):c.1543G>A (p.Gly515Arg) rs1555458704
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.1606G>A (p.Gly536Ser) rs1555458683
NM_001009944.3(PKD1):c.1617G>C (p.Gln539His) rs1382845038
NM_001009944.3(PKD1):c.1630_1632CTC[1] (p.Leu545del)
NM_001009944.3(PKD1):c.1685A>G (p.Gln562Arg) rs1185676416
NM_001009944.3(PKD1):c.1827G>A (p.Val609=) rs905577227
NM_001009944.3(PKD1):c.1886C>G (p.Ser629Cys) rs569768187
NM_001009944.3(PKD1):c.1894A>G (p.Asn632Asp)
NM_001009944.3(PKD1):c.1999A>G (p.Asn667Asp) rs1351098350
NM_001009944.3(PKD1):c.2020_2025dup (p.Gly674_Leu675dup) rs1567212718
NM_001009944.3(PKD1):c.215+4_215+5insACAG rs1555462432
NM_001009944.3(PKD1):c.2152C>A (p.Gln718Lys) rs1555458032
NM_001009944.3(PKD1):c.2161G>A (p.Ala721Thr) rs1085307516
NM_001009944.3(PKD1):c.2180T>A (p.Leu727Gln)
NM_001009944.3(PKD1):c.2180T>C (p.Leu727Pro)
NM_001009944.3(PKD1):c.2200G>A (p.Gly734Ser) rs1311664031
NM_001009944.3(PKD1):c.226C>T (p.His76Tyr) rs932577597
NM_001009944.3(PKD1):c.239G>A (p.Arg80Gln) rs1190107349
NM_001009944.3(PKD1):c.2444T>C (p.Phe815Ser)
NM_001009944.3(PKD1):c.2500G>A (p.Gly834Ser) rs766302578
NM_001009944.3(PKD1):c.2540T>C (p.Leu847Pro)
NM_001009944.3(PKD1):c.2732T>G (p.Val911Gly)
NM_001009944.3(PKD1):c.2780_2782CGG[1] (p.Ala928del)
NM_001009944.3(PKD1):c.2806C>T (p.Arg936Cys) rs1085307552
NM_001009944.3(PKD1):c.285G>T (p.Glu95Asp)
NM_001009944.3(PKD1):c.2879G>A (p.Gly960Asp) rs1567208088
NM_001009944.3(PKD1):c.2885A>G (p.Asp962Gly) rs1567208045
NM_001009944.3(PKD1):c.2902A>G (p.Thr968Ala) rs1555457457
NM_001009944.3(PKD1):c.2942T>C (p.Val981Ala) rs1555457440
NM_001009944.3(PKD1):c.296G>T (p.Ser99Ile)
NM_001009944.3(PKD1):c.3007_3024dup (p.Ser1003_Asn1008dup) rs1555457321
NM_001009944.3(PKD1):c.3019G>A (p.Val1007Met) rs376176735
NM_001009944.3(PKD1):c.3022_3039del (p.Asn1008_Val1013del) rs1567207029
NM_001009944.3(PKD1):c.3043C>T (p.Arg1015Trp)
NM_001009944.3(PKD1):c.305_307del (p.Lys102del) rs1567219527
NM_001009944.3(PKD1):c.3159C>T (p.Phe1053=) rs369632433
NM_001009944.3(PKD1):c.3200T>C (p.Phe1067Ser)
NM_001009944.3(PKD1):c.3205C>T (p.Pro1069Ser)
NM_001009944.3(PKD1):c.3242C>T (p.Ser1081Leu) rs377441860
NM_001009944.3(PKD1):c.3295+12G>C rs1397385522
NM_001009944.3(PKD1):c.3334G>A (p.Glu1112Lys) rs770755888
NM_001009944.3(PKD1):c.3415_3423del (p.Val1139_Gly1141del) rs1060499705
NM_001009944.3(PKD1):c.3437_3439del (p.Phe1146del) rs1320867301
NM_001009944.3(PKD1):c.3496G>A (p.Gly1166Ser) rs573566419
NM_001009944.3(PKD1):c.3644T>C (p.Leu1215Pro) rs1555456557
NM_001009944.3(PKD1):c.3655A>G (p.Met1219Val)
NM_001009944.3(PKD1):c.3667G>A (p.Val1223Met) rs749092859
NM_001009944.3(PKD1):c.3736G>A (p.Asp1246Asn) rs553360241
NM_001009944.3(PKD1):c.3749G>A (p.Gly1250Asp) rs1567202673
NM_001009944.3(PKD1):c.377C>T (p.Pro126Leu) rs1567219166
NM_001009944.3(PKD1):c.3785A>G (p.His1262Arg) rs1057518976
NM_001009944.3(PKD1):c.3796C>T (p.Arg1266Trp) rs376754657
NM_001009944.3(PKD1):c.3961C>T (p.Pro1321Ser)
NM_001009944.3(PKD1):c.4008C>A (p.Asn1336Lys)
NM_001009944.3(PKD1):c.4015G>A (p.Val1339Met) rs147141131
NM_001009944.3(PKD1):c.4051C>T (p.Arg1351Trp) rs55840049
NM_001009944.3(PKD1):c.4052G>A (p.Arg1351Gln) rs374129201
NM_001009944.3(PKD1):c.4055G>A (p.Ser1352Asn) rs141274774
NM_001009944.3(PKD1):c.4072G>C (p.Ala1358Pro) rs1567201469
NM_001009944.3(PKD1):c.4127T>C (p.Val1376Ala)
NM_001009944.3(PKD1):c.4148T>A (p.Val1383Asp) rs1567201202
NM_001009944.3(PKD1):c.4187A>T (p.Asp1396Val)
NM_001009944.3(PKD1):c.4195_4196inv (p.Trp1399Gln) rs1555456192
NM_001009944.3(PKD1):c.4217C>T (p.Pro1406Leu) rs1258742494
NM_001009944.3(PKD1):c.4220C>T (p.Pro1407Leu) rs140412120
NM_001009944.3(PKD1):c.4270A>G (p.Thr1424Ala) rs2239671
NM_001009944.3(PKD1):c.4319_4321del (p.Ser1440del) rs1567200450
NM_001009944.3(PKD1):c.4340C>A (p.Ala1447Glu)
NM_001009944.3(PKD1):c.4601_4602delinsTT (p.Ser1534Ile)
NM_001009944.3(PKD1):c.461C>T (p.Thr154Met) rs1441482246
NM_001009944.3(PKD1):c.4631T>G (p.Val1544Gly) rs1555455904
NM_001009944.3(PKD1):c.4720G>A (p.Ala1574Thr) rs767157522
NM_001009944.3(PKD1):c.4736G>C (p.Arg1579Pro) rs541777274
NM_001009944.3(PKD1):c.4756G>A (p.Asp1586Asn) rs770968964
NM_001009944.3(PKD1):c.4835C>T (p.Thr1612Met) rs767665300
NM_001009944.3(PKD1):c.4901G>T (p.Gly1634Val)
NM_001009944.3(PKD1):c.4910T>G (p.Val1637Gly)
NM_001009944.3(PKD1):c.4968T>C (p.Val1656=)
NM_001009944.3(PKD1):c.4984G>A (p.Val1662Ile)
NM_001009944.3(PKD1):c.4988_4990del (p.Ser1663del)
NM_001009944.3(PKD1):c.5037C>A (p.Ser1679Arg) rs144091742
NM_001009944.3(PKD1):c.5080C>T (p.His1694Tyr)
NM_001009944.3(PKD1):c.5093G>A (p.Arg1698Gln) rs569887918
NM_001009944.3(PKD1):c.5093G>C (p.Arg1698Pro) rs569887918
NM_001009944.3(PKD1):c.5125G>A (p.Asp1709Asn) rs1199050207
NM_001009944.3(PKD1):c.5203A>T (p.Ser1735Cys) rs1064796417
NM_001009944.3(PKD1):c.5209A>G (p.Thr1737Ala)
NM_001009944.3(PKD1):c.5270G>A (p.Gly1757Glu) rs770462764
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.5501A>G (p.Asn1834Ser) rs544092291
NM_001009944.3(PKD1):c.5557A>G (p.Thr1853Ala) rs1064797206
NM_001009944.3(PKD1):c.5648C>T (p.Ala1883Val) rs779745348
NM_001009944.3(PKD1):c.565T>G (p.Ser189Ala) rs1555459201
NM_001009944.3(PKD1):c.5665G>A (p.Gly1889Ser)
NM_001009944.3(PKD1):c.5753C>T (p.Thr1918Ile) rs878915702
NM_001009944.3(PKD1):c.5803C>T (p.Arg1935Cys) rs776113903
NM_001009944.3(PKD1):c.5830G>A (p.Gly1944Arg) rs200001471
NM_001009944.3(PKD1):c.5852G>A (p.Arg1951Gln) rs137905643
NM_001009944.3(PKD1):c.5953G>A (p.Ala1985Thr) rs771005067
NM_001009944.3(PKD1):c.5984G>C (p.Arg1995Pro)
NM_001009944.3(PKD1):c.5986G>A (p.Val1996Met) rs1114167373
NM_001009944.3(PKD1):c.5987T>G (p.Val1996Gly)
NM_001009944.3(PKD1):c.5999C>G (p.Ser2000Cys)
NM_001009944.3(PKD1):c.6026C>T (p.Ser2009Leu)
NM_001009944.3(PKD1):c.6065C>T (p.Ser2022Leu) rs781681199
NM_001009944.3(PKD1):c.6097G>A (p.Ala2033Thr) rs771364071
NM_001009944.3(PKD1):c.6124G>A (p.Ala2042Thr) rs556681288
NM_001009944.3(PKD1):c.6224G>A (p.Arg2075His) rs200930978
NM_001009944.3(PKD1):c.6395T>G (p.Phe2132Cys) rs150154235
NM_001009944.3(PKD1):c.641G>A (p.Cys214Tyr)
NM_001009944.3(PKD1):c.6622G>C (p.Gly2208Arg) rs779825346
NM_001009944.3(PKD1):c.662T>C (p.Leu221Pro) rs1567218310
NM_001009944.3(PKD1):c.6656C>T (p.Pro2219Leu) rs1567191874
NM_001009944.3(PKD1):c.665C>A (p.Ala222Glu) rs1567218284
NM_001009944.3(PKD1):c.6746T>A (p.Val2249Glu) rs1555454223
NM_001009944.3(PKD1):c.6749C>T (p.Thr2250Met) rs139971481
NM_001009944.3(PKD1):c.6784G>C (p.Gly2262Arg) rs1567191274
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.7010C>A (p.Thr2337Asn) rs1060499713
NM_001009944.3(PKD1):c.7034C>T (p.Ala2345Val)
NM_001009944.3(PKD1):c.7145G>T (p.Ser2382Ile) rs1555453383
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.7183A>T (p.Asn2395Tyr)
NM_001009944.3(PKD1):c.7226C>T (p.Thr2409Met) rs1446061270
NM_001009944.3(PKD1):c.7265C>A (p.Thr2422Lys) rs1555453210
NM_001009944.3(PKD1):c.7275C>T (p.Gly2425=) rs115772084
NM_001009944.3(PKD1):c.7316G>A (p.Arg2439Gln) rs201021499
NM_001009944.3(PKD1):c.7336_7338del (p.Phe2446del) rs1567186120
NM_001009944.3(PKD1):c.7375G>T (p.Gly2459Cys) rs1555453102
NM_001009944.3(PKD1):c.7429C>T (p.Arg2477Cys) rs376283361
NM_001009944.3(PKD1):c.7448C>T (p.Ala2483Val) rs759448663
NM_001009944.3(PKD1):c.7470_7475del (p.Lys2490_His2492delinsAsn)
NM_001009944.3(PKD1):c.7495C>T (p.His2499Tyr) rs1439713011
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.7646_7648del (p.Val2549del) rs1567184420
NM_001009944.3(PKD1):c.7714A>G (p.Ile2572Val) rs1555452734
NM_001009944.3(PKD1):c.7720C>T (p.Leu2574Phe) rs762784886
NM_001009944.3(PKD1):c.773C>T (p.Thr258Ile) rs754889452
NM_001009944.3(PKD1):c.776G>A (p.Cys259Tyr) rs529066905
NM_001009944.3(PKD1):c.7918G>T (p.Ala2640Ser)
NM_001009944.3(PKD1):c.7946C>T (p.Thr2649Ile) rs1490043027
NM_001009944.3(PKD1):c.7993G>A (p.Ala2665Thr) rs764822533
NM_001009944.3(PKD1):c.8110G>A (p.Ala2704Thr) rs555901411
NM_001009944.3(PKD1):c.8112_8132del (p.Gly2705_Ala2711del)
NM_001009944.3(PKD1):c.8129C>A (p.Thr2710Asn) rs199700485
NM_001009944.3(PKD1):c.8161+4C>T rs766547394
NM_001009944.3(PKD1):c.8194C>T (p.Arg2732Trp) rs751031560
NM_001009944.3(PKD1):c.8237G>A (p.Arg2746Gln) rs1800569
NM_001009944.3(PKD1):c.8246C>T (p.Ala2749Val) rs773014664
NM_001009944.3(PKD1):c.8287_8289del (p.Leu2763del) rs1555451280
NM_001009944.3(PKD1):c.8293C>T (p.Arg2765Cys) rs144979397
NM_001009944.3(PKD1):c.8302G>A (p.Val2768Met) rs1456510041
NM_001009944.3(PKD1):c.8369C>T (p.Pro2790Leu) rs769345341
NM_001009944.3(PKD1):c.8381T>C (p.Leu2794Pro)
NM_001009944.3(PKD1):c.8411G>A (p.Cys2804Tyr) rs1555451184
NM_001009944.3(PKD1):c.8414A>G (p.His2805Arg) rs202086892
NM_001009944.3(PKD1):c.8497C>T (p.Pro2833Ser) rs1057523051
NM_001009944.3(PKD1):c.8499delinsAAAG (p.Phe2834_Pro2835insLys)
NM_001009944.3(PKD1):c.8590G>A (p.Glu2864Lys) rs374629549
NM_001009944.3(PKD1):c.8611G>A (p.Ala2871Thr) rs556305338
NM_001009944.3(PKD1):c.8611G>C (p.Ala2871Pro)
NM_001009944.3(PKD1):c.8615T>A (p.Ile2872Asn)
NM_001009944.3(PKD1):c.8620G>A (p.Val2874Met) rs574287355
NM_001009944.3(PKD1):c.8663G>A (p.Arg2888His) rs200168879
NM_001009944.3(PKD1):c.8777A>G (p.Tyr2926Cys) rs1229120097
NM_001009944.3(PKD1):c.8791+5G>A rs751652400
NM_001009944.3(PKD1):c.8791+5G>C rs751652400
NM_001009944.3(PKD1):c.8828C>T (p.Ala2943Val) rs1567175859
NM_001009944.3(PKD1):c.8830G>T (p.Val2944Phe) rs1555450761
NM_001009944.3(PKD1):c.8896G>T (p.Glu2966Ter) rs773129632
NM_001009944.3(PKD1):c.8911G>A (p.Ala2971Thr) rs1555450667
NM_001009944.3(PKD1):c.8932_8934TTC[1] (p.Phe2979del) rs1358948221
NM_001009944.3(PKD1):c.8948+15C>T rs778271516
NM_001009944.3(PKD1):c.9029T>A (p.Leu3010Gln) rs750501225
NM_001009944.3(PKD1):c.9065_9070del (p.Asp3022_Met3023del) rs1555450426
NM_001009944.3(PKD1):c.9067A>G (p.Met3023Val) rs17135779
NM_001009944.3(PKD1):c.9067_9123del (p.Met3023_Ala3041del) rs1567174543
NM_001009944.3(PKD1):c.9077G>C (p.Arg3026Pro)
NM_001009944.3(PKD1):c.9124G>A (p.Val3042Ile) rs966307189
NM_001009944.3(PKD1):c.9185T>G (p.Val3062Gly)
NM_001009944.3(PKD1):c.9199C>T (p.Pro3067Ser) rs1211697062
NM_001009944.3(PKD1):c.9201+5G>A
NM_001009944.3(PKD1):c.9239C>G (p.Thr3080Arg) rs1322954391
NM_001009944.3(PKD1):c.9296A>T (p.Asp3099Val) rs1567173808
NM_001009944.3(PKD1):c.9377C>T (p.Thr3126Ile) rs1567173560
NM_001009944.3(PKD1):c.9397+3G>C rs1555450109
NM_001009944.3(PKD1):c.9451C>T (p.His3151Tyr)
NM_001009944.3(PKD1):c.9454C>T (p.Arg3152Trp)
NM_001009944.3(PKD1):c.9494T>C (p.Leu3165Pro) rs1555449597
NM_001009944.3(PKD1):c.9499A>T (p.Ile3167Phe) rs139945204
NM_001009944.3(PKD1):c.9527T>A (p.Leu3176Gln)
NM_001009944.3(PKD1):c.9611A>C (p.Asp3204Ala)
NM_001009944.3(PKD1):c.9634_9635delinsGC (p.Phe3212Ala) rs1085307551
NM_001009944.3(PKD1):c.9674_9700del (p.Ala3225_Glu3233del) rs1555449461
NM_001009944.3(PKD1):c.9718G>A (p.Ala3240Thr) rs143312683
NM_001009944.3(PKD1):c.9724C>G (p.Leu3242Val) rs780284563
NM_001009944.3(PKD1):c.9788G>C (p.Trp3263Ser) rs1555449378
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.9853G>A (p.Val3285Ile)
NM_001009944.3(PKD1):c.9925A>C (p.Thr3309Pro)
NM_001009944.3(PKD1):c.9934G>A (p.Val3312Met)
NM_001009944.3(PKD1):c.9970G>A (p.Ala3324Thr) rs1422578175
NM_001009944.3(PKD1):c.997G>A (p.Val333Met) rs772316684
NM_001009944.3(PKD1):c.9991G>A (p.Val3331Met) rs541894980

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