ClinVar Miner

List of variants reported as uncertain significance for polycystic kidney disease 1 by Fulgent Genetics, Fulgent Genetics

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 157
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001009944.3(PKD1):c.11017-3C>T rs185355445 0.00135
NM_001009944.3(PKD1):c.11356G>C (p.Glu3786Gln) rs147992238 0.00053
NM_001009944.3(PKD1):c.10043G>A (p.Arg3348Gln) rs146494724 0.00044
NM_001009944.3(PKD1):c.11675G>A (p.Arg3892His) rs748887038 0.00040
NM_001009944.3(PKD1):c.7124C>T (p.Ala2375Val) rs780145654 0.00039
NM_001009944.3(PKD1):c.4015G>A (p.Val1339Met) rs147141131 0.00024
NM_001009944.3(PKD1):c.2896C>T (p.Arg966Trp) rs746771378 0.00017
NM_001009944.3(PKD1):c.8294G>A (p.Arg2765His) rs375198888 0.00017
NM_001009944.3(PKD1):c.1967T>A (p.Leu656Gln) rs759950842 0.00016
NM_001009944.3(PKD1):c.7835C>T (p.Ser2612Leu) rs200646755 0.00015
NM_001009944.3(PKD1):c.5032G>A (p.Gly1678Ser) rs146527465 0.00014
NM_001009944.3(PKD1):c.7340C>T (p.Thr2447Met) rs760315179 0.00014
NM_001009944.3(PKD1):c.4835C>T (p.Thr1612Met) rs767665300 0.00013
NM_001009944.3(PKD1):c.6026C>T (p.Ser2009Leu) rs145762096 0.00013
NM_001009944.3(PKD1):c.10042C>T (p.Arg3348Trp) rs769208706 0.00010
NM_001009944.3(PKD1):c.2462T>C (p.Val821Ala) rs766549097 0.00010
NM_001009944.3(PKD1):c.4891C>T (p.Leu1631Phe) rs543561238 0.00009
NM_001009944.3(PKD1):c.8194C>T (p.Arg2732Trp) rs751031560 0.00009
NM_001009944.3(PKD1):c.8590G>A (p.Glu2864Lys) rs374629549 0.00009
NM_001009944.3(PKD1):c.7289G>A (p.Arg2430Gln) rs62038819 0.00008
NM_001009944.3(PKD1):c.6403G>A (p.Ala2135Thr) rs779342040 0.00007
NM_001009944.3(PKD1):c.7567G>A (p.Glu2523Lys) rs554493059 0.00007
NM_001009944.3(PKD1):c.8110G>A (p.Ala2704Thr) rs555901411 0.00007
NM_001009944.3(PKD1):c.7034C>T (p.Ala2345Val) rs769636582 0.00006
NM_001009944.3(PKD1):c.8045C>T (p.Ser2682Leu) rs151308544 0.00006
NM_001009944.3(PKD1):c.8146A>G (p.Ile2716Val) rs1353004865 0.00006
NM_001009944.3(PKD1):c.8428G>A (p.Glu2810Lys) rs777608163 0.00006
NM_001009944.3(PKD1):c.3281C>G (p.Thr1094Ser) rs752995047 0.00005
NM_001009944.3(PKD1):c.7039C>T (p.Arg2347Cys) rs781114712 0.00005
NM_001009944.3(PKD1):c.9136C>T (p.Arg3046Cys) rs773857360 0.00005
NM_001009944.3(PKD1):c.9224A>C (p.Tyr3075Ser) rs886265852 0.00005
NM_001009944.3(PKD1):c.9820C>T (p.Arg3274Cys) rs531854741 0.00005
NM_001009944.3(PKD1):c.10006G>A (p.Val3336Ile) rs754956606 0.00004
NM_001009944.3(PKD1):c.10804G>A (p.Gly3602Ser) rs781492044 0.00004
NM_001009944.3(PKD1):c.11030A>G (p.Tyr3677Cys) rs553106581 0.00004
NM_001009944.3(PKD1):c.1603G>A (p.Gly535Arg) rs776110243 0.00004
NM_001009944.3(PKD1):c.4028C>T (p.Pro1343Leu) rs138096771 0.00004
NM_001009944.3(PKD1):c.4632G>A (p.Val1544=) rs142035983 0.00004
NM_001009944.3(PKD1):c.5209A>G (p.Thr1737Ala) rs760993331 0.00004
NM_001009944.3(PKD1):c.5501A>G (p.Asn1834Ser) rs544092291 0.00004
NM_001009944.3(PKD1):c.5746G>C (p.Ala1916Pro) rs773527738 0.00004
NM_001009944.3(PKD1):c.7147C>T (p.Arg2383Cys) rs754486194 0.00004
NM_001009944.3(PKD1):c.7309G>A (p.Val2437Met) rs780043149 0.00004
NM_001009944.3(PKD1):c.7405C>T (p.Arg2469Cys) rs367918229 0.00004
NM_001009944.3(PKD1):c.8414A>G (p.His2805Arg) rs202086892 0.00004
NM_001009944.3(PKD1):c.9626G>A (p.Arg3209His) rs1063405 0.00004
NM_001009944.3(PKD1):c.9631G>A (p.Ala3211Thr) rs533152302 0.00004
NM_001009944.3(PKD1):c.11347G>A (p.Val3783Ile) rs200120839 0.00003
NM_001009944.3(PKD1):c.12355C>T (p.Arg4119Trp) rs889547396 0.00003
NM_001009944.3(PKD1):c.16C>T (p.Pro6Ser) rs1320256969 0.00003
NM_001009944.3(PKD1):c.226C>T (p.His76Tyr) rs932577597 0.00003
NM_001009944.3(PKD1):c.2728G>A (p.Asp910Asn) rs773329559 0.00003
NM_001009944.3(PKD1):c.3605C>T (p.Ala1202Val) rs767834829 0.00003
NM_001009944.3(PKD1):c.5071G>A (p.Gly1691Ser) rs552542784 0.00003
NM_001009944.3(PKD1):c.5173G>A (p.Ala1725Thr) rs779607937 0.00003
NM_001009944.3(PKD1):c.5645C>T (p.Thr1882Met) rs772716160 0.00003
NM_001009944.3(PKD1):c.6048C>G (p.Asp2016Glu) rs767363184 0.00003
NM_001009944.3(PKD1):c.6097G>A (p.Ala2033Thr) rs771364071 0.00003
NM_001009944.3(PKD1):c.9199C>T (p.Pro3067Ser) rs1211697062 0.00003
NM_001009944.3(PKD1):c.1360C>T (p.Arg454Cys) rs765408067 0.00002
NM_001009944.3(PKD1):c.2489C>T (p.Ala830Val) rs775988021 0.00002
NM_001009944.3(PKD1):c.2806C>T (p.Arg936Cys) rs1085307552 0.00002
NM_001009944.3(PKD1):c.3255G>A (p.Val1085=) rs754575596 0.00002
NM_001009944.3(PKD1):c.4189G>A (p.Glu1397Lys) rs755462601 0.00002
NM_001009944.3(PKD1):c.6065C>T (p.Ser2022Leu) rs781681199 0.00002
NM_001009944.3(PKD1):c.7600A>G (p.Ser2534Gly) rs3874655 0.00002
NM_001009944.3(PKD1):c.8369C>T (p.Pro2790Leu) rs769345341 0.00002
NM_001009944.3(PKD1):c.8795A>G (p.His2932Arg) rs201524173 0.00002
NM_001009944.3(PKD1):c.9124G>A (p.Val3042Ile) rs966307189 0.00002
NM_001009944.3(PKD1):c.9454C>T (p.Arg3152Trp) rs776866974 0.00002
NM_001009944.3(PKD1):c.10001A>G (p.Tyr3334Cys) rs1287231217 0.00001
NM_001009944.3(PKD1):c.11942C>T (p.Ala3981Val) rs1424119004 0.00001
NM_001009944.3(PKD1):c.12526C>T (p.Pro4176Ser) rs755976712 0.00001
NM_001009944.3(PKD1):c.2200G>A (p.Gly734Ser) rs1311664031 0.00001
NM_001009944.3(PKD1):c.2360A>T (p.Asn787Ile) rs928084406 0.00001
NM_001009944.3(PKD1):c.2849T>C (p.Leu950Pro) rs2369063 0.00001
NM_001009944.3(PKD1):c.2878G>A (p.Gly960Ser) rs1163700577 0.00001
NM_001009944.3(PKD1):c.2993C>T (p.Ala998Val) rs1393997103 0.00001
NM_001009944.3(PKD1):c.3494A>G (p.Asp1165Gly) rs751293870 0.00001
NM_001009944.3(PKD1):c.4057G>A (p.Gly1353Ser) rs1474271392 0.00001
NM_001009944.3(PKD1):c.4696G>A (p.Val1566Met) rs2575314 0.00001
NM_001009944.3(PKD1):c.4736G>C (p.Arg1579Pro) rs541777274 0.00001
NM_001009944.3(PKD1):c.5080C>T (p.His1694Tyr) rs374424212 0.00001
NM_001009944.3(PKD1):c.5125G>A (p.Asp1709Asn) rs1199050207 0.00001
NM_001009944.3(PKD1):c.5986G>A (p.Val1996Met) rs1114167373 0.00001
NM_001009944.3(PKD1):c.6446C>T (p.Pro2149Leu) rs982097679 0.00001
NM_001009944.3(PKD1):c.6739G>A (p.Ala2247Thr) rs749515571 0.00001
NM_001009944.3(PKD1):c.802G>A (p.Val268Ile) rs566531762 0.00001
NM_001009944.3(PKD1):c.8049C>T (p.Cys2683=) rs377029031 0.00001
NM_001009944.3(PKD1):c.8207C>T (p.Pro2736Leu) rs760592410 0.00001
NM_001009944.3(PKD1):c.8302G>A (p.Val2768Met) rs1456510041 0.00001
NM_001009944.3(PKD1):c.9688G>C (p.Val3230Leu) rs747054731 0.00001
NM_001009944.3(PKD1):c.9739C>T (p.Arg3247Cys) rs757771138 0.00001
NM_001009944.3(PKD1):c.10481C>G (p.Thr3494Arg) rs752503970
NM_001009944.3(PKD1):c.10698GGCTGT[4] (p.3567AV[4]) rs777460677
NM_001009944.3(PKD1):c.10772C>T (p.Ser3591Phe) rs2091723749
NM_001009944.3(PKD1):c.1084G>A (p.Val362Met) rs1428207672
NM_001009944.3(PKD1):c.11158T>G (p.Ser3720Ala) rs780574700
NM_001009944.3(PKD1):c.11243G>C (p.Arg3748Pro) rs546924823
NM_001009944.3(PKD1):c.11340_11345dup (p.Tyr3781_Asp3782dup) rs2091618795
NM_001009944.3(PKD1):c.11351G>T (p.Gly3784Val) rs142455071
NM_001009944.3(PKD1):c.11606T>G (p.Leu3869Arg) rs1555445569
NM_001009944.3(PKD1):c.11684C>T (p.Ala3895Val) rs1251469390
NM_001009944.3(PKD1):c.1211C>G (p.Pro404Arg) rs767579073
NM_001009944.3(PKD1):c.12149C>T (p.Ser4050Phe) rs186160250
NM_001009944.3(PKD1):c.12449G>A (p.Arg4150His) rs36221080
NM_001009944.3(PKD1):c.12827G>A (p.Arg4276Gln) rs1188304476
NM_001009944.3(PKD1):c.12888C>G (p.Asn4296Lys) rs777990224
NM_001009944.3(PKD1):c.1617G>C (p.Gln539His) rs1382845038
NM_001009944.3(PKD1):c.1781T>C (p.Phe594Ser) rs1596582702
NM_001009944.3(PKD1):c.1894A>G (p.Asn632Asp) rs763213387
NM_001009944.3(PKD1):c.2109C>A (p.His703Gln) rs527655141
NM_001009944.3(PKD1):c.3170T>C (p.Phe1057Ser) rs2151804604
NM_001009944.3(PKD1):c.3212A>C (p.Tyr1071Ser) rs2092538545
NM_001009944.3(PKD1):c.3437_3439del (p.Phe1146del) rs1320867301
NM_001009944.3(PKD1):c.3483G>T (p.Trp1161Cys) rs1483748105
NM_001009944.3(PKD1):c.359+5G>A rs2092683412
NM_001009944.3(PKD1):c.3655A>G (p.Met1219Val) rs139100448
NM_001009944.3(PKD1):c.38T>C (p.Leu13Pro) rs2092941758
NM_001009944.3(PKD1):c.3977T>C (p.Phe1326Ser) rs2092493397
NM_001009944.3(PKD1):c.405G>T (p.Trp135Cys) rs2092679535
NM_001009944.3(PKD1):c.5093G>A (p.Arg1698Gln) rs569887918
NM_001009944.3(PKD1):c.5270G>A (p.Gly1757Glu) rs770462764
NM_001009944.3(PKD1):c.565T>G (p.Ser189Ala) rs1555459201
NM_001009944.3(PKD1):c.5803C>T (p.Arg1935Cys) rs776113903
NM_001009944.3(PKD1):c.6287T>C (p.Phe2096Ser) rs1596552090
NM_001009944.3(PKD1):c.6293A>G (p.Asp2098Gly) rs2151788839
NM_001009944.3(PKD1):c.6335A>C (p.His2112Pro) rs1596551934
NM_001009944.3(PKD1):c.665C>A (p.Ala222Glu) rs1567218284
NM_001009944.3(PKD1):c.6683A>G (p.Tyr2228Cys) rs1596550613
NM_001009944.3(PKD1):c.7007A>G (p.Tyr2336Cys) rs2151783812
NM_001009944.3(PKD1):c.7271C>T (p.Thr2424Met) rs1367567191
NM_001009944.3(PKD1):c.7367AGG[2] (p.Glu2458del) rs1391744174
NM_001009944.3(PKD1):c.7409C>T (p.Pro2470Leu) rs539143745
NM_001009944.3(PKD1):c.7546C>G (p.Arg2516Gly) rs797044902
NM_001009944.3(PKD1):c.7553G>A (p.Arg2518His) rs781066020
NM_001009944.3(PKD1):c.755C>G (p.Pro252Arg) rs771788496
NM_001009944.3(PKD1):c.7702A>G (p.Arg2568Gly) rs2092327341
NM_001009944.3(PKD1):c.8032C>A (p.Leu2678Ile) rs1269793804
NM_001009944.3(PKD1):c.8138G>A (p.Gly2713Glu) rs1395231369
NM_001009944.3(PKD1):c.8279T>C (p.Met2760Thr) rs879809222
NM_001009944.3(PKD1):c.8282G>C (p.Arg2761Pro) rs145629362
NM_001009944.3(PKD1):c.8284_8295dup (p.Ile2762_Arg2765dup) rs1596527370
NM_001009944.3(PKD1):c.8291T>C (p.Met2764Thr) rs1596527405
NM_001009944.3(PKD1):c.8791+5G>A rs751652400
NM_001009944.3(PKD1):c.8809G>A (p.Glu2937Lys) rs2151752267
NM_001009944.3(PKD1):c.890C>G (p.Pro297Arg) rs757527492
NM_001009944.3(PKD1):c.8999G>C (p.Arg3000Pro) rs746460070
NM_001009944.3(PKD1):c.9029T>A (p.Leu3010Gln) rs750501225
NM_001009944.3(PKD1):c.9041T>C (p.Leu3014Pro) rs2151750096
NM_001009944.3(PKD1):c.9155G>T (p.Gly3052Val) rs769436046
NM_001009944.3(PKD1):c.9395C>T (p.Ser3132Leu) rs2092119222
NM_001009944.3(PKD1):c.9412G>T (p.Val3138Leu) rs1358566538
NM_001009944.3(PKD1):c.9425T>C (p.Leu3142Pro) rs2092051851
NM_001009944.3(PKD1):c.9430G>A (p.Gly3144Arg) rs1596515144
NM_001009944.3(PKD1):c.9598G>T (p.Val3200Phe) rs1422698524
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.