ClinVar Miner

List of variants in gene PKD1 reported as likely benign by ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 85
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001009944.3(PKD1):c.10234C>T (p.Pro3412Ser) rs149605181 0.00383
NM_001009944.3(PKD1):c.12826C>T (p.Arg4276Trp) rs114251396 0.00335
NM_001009944.3(PKD1):c.10304G>A (p.Arg3435Gln) rs140189010 0.00328
NM_001009944.3(PKD1):c.4018C>T (p.Arg1340Trp) rs143690392 0.00324
NM_001009944.3(PKD1):c.6488G>A (p.Arg2163Gln) rs145217118 0.00290
NM_001009944.3(PKD1):c.8119G>A (p.Val2707Met) rs139507058 0.00267
NM_001009944.3(PKD1):c.3316C>G (p.Leu1106Val) rs141625744 0.00226
NM_001009944.3(PKD1):c.12769G>A (p.Gly4257Arg) rs369397443 0.00209
NM_001009944.3(PKD1):c.3183G>A (p.Glu1061=) rs148727945 0.00165
NM_001009944.3(PKD1):c.10325C>T (p.Ala3442Val) rs144593342 0.00150
NM_001009944.3(PKD1):c.11717G>T (p.Cys3906Phe) rs369291413 0.00127
NM_001009944.3(PKD1):c.588C>T (p.Ser196=) rs776302294 0.00116
NM_001009944.3(PKD1):c.739C>T (p.Leu247Phe) rs537409943 0.00110
NM_001009944.3(PKD1):c.10678G>A (p.Gly3560Arg) rs79000340 0.00097
NM_001009944.3(PKD1):c.6665C>T (p.Ala2222Val) rs148496347 0.00091
NM_001009944.3(PKD1):c.8200C>A (p.Pro2734Thr) rs150568356 0.00069
NM_001009944.3(PKD1):c.3369C>T (p.Arg1123=) rs143449093 0.00061
NM_001009944.3(PKD1):c.4856C>T (p.Ser1619Phe) rs146723506 0.00061
NM_001009944.3(PKD1):c.8111C>T (p.Ala2704Val) rs200509641 0.00059
NM_001009944.3(PKD1):c.12139-5C>T rs146430229 0.00055
NM_001009944.3(PKD1):c.11356G>C (p.Glu3786Gln) rs147992238 0.00053
NM_001009944.3(PKD1):c.6979C>T (p.Arg2327Trp) rs184394342 0.00051
NM_001009944.3(PKD1):c.9506G>A (p.Arg3169Gln) rs375378535 0.00051
NM_001009944.3(PKD1):c.7575C>T (p.Phe2525=) rs144409293 0.00044
NM_001009944.3(PKD1):c.7703+23G>A rs751928868 0.00042
NM_001009944.3(PKD1):c.11015G>A (p.Arg3672Gln) rs201220835 0.00039
NM_001009944.3(PKD1):c.4810G>A (p.Val1604Met) rs191685707 0.00035
NM_001009944.3(PKD1):c.4657G>A (p.Val1553Ile) rs200049385 0.00029
NM_001009944.3(PKD1):c.10397C>T (p.Ser3466Leu) rs147464577 0.00026
NM_001009944.3(PKD1):c.11156+36C>T rs369188265 0.00024
NM_001009944.3(PKD1):c.3679G>T (p.Ala1227Ser) rs150710956 0.00022
NM_001009944.3(PKD1):c.7430G>A (p.Arg2477His) rs556618384 0.00019
NM_001009944.3(PKD1):c.10619G>C (p.Gly3540Ala) rs201409107 0.00018
NM_001009944.3(PKD1):c.4809C>T (p.Ser1603=) rs146103326 0.00016
NM_001009944.3(PKD1):c.8100A>G (p.Ala2700=) rs372759889 0.00015
NM_001009944.3(PKD1):c.8750C>T (p.Ala2917Val) rs550768338 0.00015
NM_001009944.3(PKD1):c.10051-29G>A rs763563760 0.00013
NM_001009944.3(PKD1):c.5770G>A (p.Gly1924Ser) rs199947459 0.00012
NM_001009944.3(PKD1):c.359+34G>A rs781038728 0.00011
NM_001009944.3(PKD1):c.7209+24C>T rs755674171 0.00010
NM_001009944.3(PKD1):c.10168-34G>A rs183682478 0.00009
NM_001009944.3(PKD1):c.10872G>A (p.Pro3624=) rs201417193 0.00009
NM_001009944.3(PKD1):c.8016+7T>C rs746089639 0.00008
NM_001009944.3(PKD1):c.9093G>T (p.Leu3031=) rs1159235832 0.00008
NM_001009944.3(PKD1):c.11713-3C>T rs754015180 0.00007
NM_001009944.3(PKD1):c.8195G>A (p.Arg2732Gln) rs78185588 0.00007
NM_001009944.3(PKD1):c.8305C>T (p.Leu2769Phe) rs771382752 0.00007
NM_001009944.3(PKD1):c.5703C>T (p.Pro1901=) rs773475991 0.00006
NM_001009944.3(PKD1):c.7490-38C>T rs775658891 0.00006
NM_001009944.3(PKD1):c.8325G>A (p.Thr2775=) rs540387350 0.00006
NM_001009944.3(PKD1):c.8780C>T (p.Thr2927Met) rs544100161 0.00006
NM_001009944.3(PKD1):c.1515C>T (p.Ala505=) rs748123570 0.00005
NM_001009944.3(PKD1):c.7488G>A (p.Thr2496=) rs776604789 0.00005
NM_001009944.3(PKD1):c.10051-6C>T rs749281950 0.00004
NM_001009944.3(PKD1):c.2986-14G>A rs376382731 0.00003
NM_001009944.3(PKD1):c.3168C>T (p.Thr1056=) rs770188395 0.00003
NM_001009944.3(PKD1):c.4338C>T (p.Thr1446=) rs781761438 0.00003
NM_001009944.3(PKD1):c.7851C>T (p.Thr2617=) rs754620450 0.00003
NM_001009944.3(PKD1):c.12486C>A (p.Pro4162=) rs759210811 0.00002
NM_001009944.3(PKD1):c.7703+12C>T rs542748732 0.00002
NM_001009944.3(PKD1):c.12004-17A>G rs749829518 0.00001
NM_001009944.3(PKD1):c.12250C>T (p.Pro4084Ser) rs1363663761 0.00001
NM_001009944.3(PKD1):c.1304A>G (p.Gln435Arg) rs1426435123 0.00001
NM_001009944.3(PKD1):c.2854-7C>T rs1234512813 0.00001
NM_001009944.3(PKD1):c.2985+14G>A rs2432399 0.00001
NM_001009944.3(PKD1):c.6420C>T (p.Thr2140=) rs1321421286 0.00001
NM_001009944.3(PKD1):c.9518C>T (p.Pro3173Leu) rs772608027 0.00001
NM_001009944.3(PKD1):c.1097C>G (p.Ser366Trp) rs752356523
NM_001009944.3(PKD1):c.11099G>A (p.Arg3700His) rs141668965
NM_001009944.3(PKD1):c.11304C>T (p.His3768=) rs1596482936
NM_001009944.3(PKD1):c.12237C>T (p.Ser4079=) rs372534935
NM_001009944.3(PKD1):c.2870T>C (p.Val957Ala) rs1555457473
NM_001009944.3(PKD1):c.2933A>G (p.Gln978Arg) rs1555457445
NM_001009944.3(PKD1):c.2967G>A (p.Ala989=) rs1324429294
NM_001009944.3(PKD1):c.45G>C (p.Leu15=) rs1208066805
NM_001009944.3(PKD1):c.5882C>T (p.Ala1961Val) rs375440448
NM_001009944.3(PKD1):c.6621C>G (p.Pro2207=) rs575553075
NM_001009944.3(PKD1):c.6792A>C (p.Ser2264=) rs142928249
NM_001009944.3(PKD1):c.6915+27A>C rs560681737
NM_001009944.3(PKD1):c.7280C>T (p.Ala2427Val) rs140494005
NM_001009944.3(PKD1):c.8161+40G>A rs2092255350
NM_001009944.3(PKD1):c.8204A>T (p.Gln2735Leu) rs141717814
NM_001009944.3(PKD1):c.9582C>T (p.Ala3194=) rs1399957695
NM_001009944.3(PKD1):c.9712+40G>A rs2092031694
NM_001009944.3(PKD1):c.9924-9_9924-7del rs892390487

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.