ClinVar Miner

List of variants studied for Autosomal dominant polycystic kidney disease by Laboratory of Gastroenterology and Hepatology, Radboud University Medical Center

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 74
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001018057.2(DKK3):c.1013C>T (p.Ala338Val) rs114429255 0.01405
NM_002335.4(LRP5):c.3107G>A (p.Arg1036Gln) rs61889560 0.00207
NM_001018057.2(DKK3):c.611A>G (p.Asn204Ser) rs199563886 0.00021
NM_001009944.3(PKD1):c.10619G>C (p.Gly3540Ala) rs201409107 0.00018
NM_002336.3(LRP6):c.3406C>T (p.Arg1136Trp) rs140962861 0.00017
NM_138694.4(PKHD1):c.8519G>A (p.Arg2840His) rs373643848 0.00008
NM_138694.4(PKHD1):c.2341C>T (p.Arg781Ter) rs398124478 0.00005
NM_001009944.3(PKD1):c.7940C>T (p.Thr2647Met) rs748496650 0.00003
NM_138694.4(PKHD1):c.5360G>T (p.Cys1787Phe) rs367970695 0.00002
NM_001009944.3(PKD1):c.12632A>C (p.Glu4211Ala) rs2091400377 0.00001
NM_001009944.3(PKD1):c.3643C>G (p.Leu1215Val) rs144338515 0.00001
NM_001009944.3(PKD1):c.3865G>A (p.Val1289Met) rs541552030 0.00001
NM_001009944.3(PKD1):c.3962C>T (p.Pro1321Leu) rs779379060 0.00001
NM_002336.3(LRP6):c.2107G>A (p.Gly703Ser) rs754570231 0.00001
NM_000297.4(PKD2):c.1027G>C (p.Glu343Gln) rs2110107239
NM_000297.4(PKD2):c.1103A>G (p.Tyr368Cys) rs2110112018
NM_000297.4(PKD2):c.1290C>A (p.Asn430Lys) rs554608570
NM_000297.4(PKD2):c.1985del (p.Thr662fs) rs2110129653
NM_000297.4(PKD2):c.2062A>G (p.Lys688Glu) rs2110134005
NM_000297.4(PKD2):c.2125del (p.His709fs) rs2110137964
NM_000297.4(PKD2):c.2508C>G (p.Tyr836Ter) rs757682666
NM_000297.4(PKD2):c.2584del (p.Ala862fs) rs2110150747
NM_000297.4(PKD2):c.2846C>T (p.Ser949Phe) rs749666891
NM_000297.4(PKD2):c.538dup (p.Leu180fs) rs1371793191
NM_000297.4(PKD2):c.556C>T (p.Arg186Ter) rs1726258048
NM_000297.4(PKD2):c.605del (p.Gly202fs) rs2110089194
NM_000297.4(PKD2):c.710-1G>A rs2110104725
NM_000297.4(PKD2):c.843G>C (p.Lys281Asn) rs1727333486
NM_000297.4(PKD2):c.860T>G (p.Leu287Ter) rs1727413505
NM_001009944.3(PKD1):c.10306C>T (p.Gln3436Ter) rs2151726823
NM_001009944.3(PKD1):c.10462C>T (p.Gln3488Ter) rs1385274120
NM_001009944.3(PKD1):c.109del (p.Cys37fs) rs2151858299
NM_001009944.3(PKD1):c.11016+1G>A rs2151707040
NM_001009944.3(PKD1):c.11172G>C (p.Trp3724Cys) rs866331895
NM_001009944.3(PKD1):c.11270-1G>A rs2151700092
NM_001009944.3(PKD1):c.11452G>T (p.Gly3818Cys) rs2151698069
NM_001009944.3(PKD1):c.11530G>C (p.Asp3844His) rs2151697614
NM_001009944.3(PKD1):c.11712+1G>C rs2091571329
NM_001009944.3(PKD1):c.12725_12735dup (p.Leu4246fs) rs2151675632
NM_001009944.3(PKD1):c.1353dup (p.Val452fs) rs2151822325
NM_001009944.3(PKD1):c.1398_1403del (p.Trp467_Ile468del) rs2151820984
NM_001009944.3(PKD1):c.2681_2690del (p.Leu893_Phe894insTer) rs2151813077
NM_001009944.3(PKD1):c.278T>C (p.Leu93Pro) rs2151826530
NM_001009944.3(PKD1):c.2839C>T (p.Gln947Ter) rs763199691
NM_001009944.3(PKD1):c.302del (p.Asn101fs) rs2151826161
NM_001009944.3(PKD1):c.3119CGG[1] (p.Ala1041del) rs2151806438
NM_001009944.3(PKD1):c.359+3A>T rs2151826018
NM_001009944.3(PKD1):c.3746A>C (p.Asp1249Ala) rs2092501507
NM_001009944.3(PKD1):c.3955G>C (p.Gly1319Arg) rs747362311
NM_001009944.3(PKD1):c.4551C>A (p.Tyr1517Ter) rs1238351274
NM_001009944.3(PKD1):c.5065G>T (p.Glu1689Ter) rs534630703
NM_001009944.3(PKD1):c.5679G>A (p.Trp1893Ter) rs2151792059
NM_001009944.3(PKD1):c.5964_5965del (p.Arg1990fs) rs2151790507
NM_001009944.3(PKD1):c.6210del (p.Cys2071fs) rs2151789316
NM_001009944.3(PKD1):c.6391A>C (p.Ser2131Arg) rs2151788244
NM_001009944.3(PKD1):c.640T>A (p.Cys214Ser) rs1567218351
NM_001009944.3(PKD1):c.6555C>A (p.Tyr2185Ter) rs755972713
NM_001009944.3(PKD1):c.6915+1G>A rs2151785467
NM_001009944.3(PKD1):c.7065+2T>G rs2151783529
NM_001009944.3(PKD1):c.7579_7580del (p.Val2527fs) rs2151772170
NM_001009944.3(PKD1):c.7844T>C (p.Leu2615Pro) rs2151769881
NM_001009944.3(PKD1):c.7969A>C (p.Thr2657Pro) rs557020044
NM_001009944.3(PKD1):c.8363C>G (p.Ser2788Trp) rs761060813
NM_001009944.3(PKD1):c.8631del (p.Asn2878fs) rs2151754452
NM_001009944.3(PKD1):c.9398-2A>G rs2151742515
NM_001009944.3(PKD1):c.9543G>C (p.Lys3181Asn) rs2092047055
NM_001009944.3(PKD1):c.9569-1G>C rs2151741177
NM_001009944.3(PKD1):c.9611A>G (p.Asp3204Gly) rs1596513913
NM_001009944.3(PKD1):c.965_984dup (p.Gly329fs) rs2151823406
NM_004852.3(ONECUT2):c.940C>T (p.Arg314Trp) rs764014713
NM_138694.4(PKHD1):c.8776C>G (p.Arg2926Gly) rs757650951
NM_198334.3(GANAB):c.11_16del (p.Val4_Ala5del) rs750723025
NM_198334.3(GANAB):c.1541A>C (p.Asn514Thr) rs1565094929
NM_198334.3(GANAB):c.1817C>G (p.Ala606Gly) rs1565093575

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.