ClinVar Miner

List of variants in gene PKD1 reported as uncertain significance for not specified

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 88
Download table as spreadsheet
HGVS dbSNP
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.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.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.11957C>T (p.Ala3986Val) rs528213425
NM_001009944.3(PKD1):c.1202-8G>A rs560799680
NM_001009944.3(PKD1):c.12037T>C (p.Ser4013Pro) rs1555444981
NM_001009944.3(PKD1):c.12407G>A (p.Arg4136Lys) rs768391524
NM_001009944.3(PKD1):c.12643C>T (p.Leu4215Phe) rs757068311
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.1306T>C (p.Cys436Arg) rs1555458892
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.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.215+4_215+5insACAG rs1555462432
NM_001009944.3(PKD1):c.2200G>A (p.Gly734Ser) rs1311664031
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.3007_3024dup (p.Ser1003_Asn1008dup) rs1555457321
NM_001009944.3(PKD1):c.3159C>T (p.Phe1053=) rs369632433
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.3437_3439del (p.Phe1146del) rs1320867301
NM_001009944.3(PKD1):c.3644T>C (p.Leu1215Pro) rs1555456557
NM_001009944.3(PKD1):c.3785A>G (p.His1262Arg) rs1057518976
NM_001009944.3(PKD1):c.4015G>A (p.Val1339Met) rs147141131
NM_001009944.3(PKD1):c.4055G>A (p.Ser1352Asn) rs141274774
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.461C>T (p.Thr154Met) rs1441482246
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.4835C>T (p.Thr1612Met) rs767665300
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.5270G>A (p.Gly1757Glu) rs770462764
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.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.6065C>T (p.Ser2022Leu) rs781681199
NM_001009944.3(PKD1):c.6124G>A (p.Ala2042Thr) rs556681288
NM_001009944.3(PKD1):c.6836G>A (p.Ser2279Asn) rs368363458
NM_001009944.3(PKD1):c.6965C>T (p.Thr2322Met) rs564570407
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.7265C>A (p.Thr2422Lys) rs1555453210
NM_001009944.3(PKD1):c.7316G>A (p.Arg2439Gln) rs201021499
NM_001009944.3(PKD1):c.7375G>T (p.Gly2459Cys) rs1555453102
NM_001009944.3(PKD1):c.755C>G (p.Pro252Arg) rs771788496
NM_001009944.3(PKD1):c.7714A>G (p.Ile2572Val) rs1555452734
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.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.8129C>A (p.Thr2710Asn) rs199700485
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.8369C>T (p.Pro2790Leu) rs769345341
NM_001009944.3(PKD1):c.8411G>A (p.Cys2804Tyr) rs1555451184
NM_001009944.3(PKD1):c.8590G>A (p.Glu2864Lys) rs374629549
NM_001009944.3(PKD1):c.8777A>G (p.Tyr2926Cys) rs1229120097
NM_001009944.3(PKD1):c.8791+5G>C rs751652400
NM_001009944.3(PKD1):c.8830G>T (p.Val2944Phe) rs1555450761
NM_001009944.3(PKD1):c.8911G>A (p.Ala2971Thr) rs1555450667
NM_001009944.3(PKD1):c.8948+15C>T rs778271516
NM_001009944.3(PKD1):c.9065_9070del (p.Asp3022_Met3023del) rs1555450426
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.9724C>G (p.Leu3242Val) rs780284563
NM_001009944.3(PKD1):c.9815G>A (p.Arg3272His) rs1452116333
NM_001009944.3(PKD1):c.997G>A (p.Val333Met) rs772316684
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.