ClinVar Miner

List of variants studied for polycystic kidney disease 1 by Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 109
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001009944.3(PKD1):c.8293C>T (p.Arg2765Cys) rs144979397 0.00495
NM_001009944.3(PKD1):c.9499A>T (p.Ile3167Phe) rs139945204 0.00125
NM_001009944.3(PKD1):c.8129C>A (p.Thr2710Asn) rs199700485 0.00049
NM_001009944.3(PKD1):c.7124C>T (p.Ala2375Val) rs780145654 0.00039
NM_001009944.3(PKD1):c.6026C>T (p.Ser2009Leu) rs145762096 0.00013
NM_001009944.3(PKD1):c.9277G>A (p.Ala3093Thr) rs111458906 0.00011
NM_001009944.3(PKD1):c.8611G>A (p.Ala2871Thr) rs556305338 0.00009
NM_001009944.3(PKD1):c.2500G>A (p.Gly834Ser) rs766302578 0.00007
NM_001009944.3(PKD1):c.7034C>T (p.Ala2345Val) rs769636582 0.00006
NM_001009944.3(PKD1):c.4028C>T (p.Pro1343Leu) rs138096771 0.00004
NM_001009944.3(PKD1):c.6097G>A (p.Ala2033Thr) rs771364071 0.00003
NM_001009944.3(PKD1):c.9934G>A (p.Val3312Met) rs1459100196 0.00003
NM_001009944.3(PKD1):c.9970G>A (p.Ala3324Thr) rs1422578175 0.00003
NM_001009944.3(PKD1):c.3736G>A (p.Asp1246Asn) rs553360241 0.00002
NM_001009944.3(PKD1):c.8161+4C>T rs766547394 0.00002
NM_001009944.3(PKD1):c.2849T>C (p.Leu950Pro) rs2369063 0.00001
NM_001009944.3(PKD1):c.5014_5015del (p.Arg1672fs) rs1555455457 0.00001
NC_000016.9:g.2155486_2155487ins2145304_2155487inv
NM_001009944.3(PKD1):c.10092dup (p.Leu3365fs) rs1567165997
NM_001009944.3(PKD1):c.10560dup (p.Pro3521fs) rs1555447196
NM_001009944.3(PKD1):c.10659del (p.Trp3553fs) rs1555447057
NM_001009944.3(PKD1):c.10698GGCTGT[4] (p.3567AV[4]) rs777460677
NM_001009944.3(PKD1):c.1078_1088del (p.Glu360fs) rs1555459001
NM_001009944.3(PKD1):c.10817T>G (p.Leu3606Arg) rs1057516200
NM_001009944.3(PKD1):c.10820A>T (p.Lys3607Met) rs1555446946
NM_001009944.3(PKD1):c.1084G>A (p.Val362Met) rs1428207672
NM_001009944.3(PKD1):c.10951G>A (p.Gly3651Ser) rs2091705970
NM_001009944.3(PKD1):c.11017-47_11022del rs2091672168
NM_001009944.3(PKD1):c.11033del (p.Met3678fs) rs1555446637
NM_001009944.3(PKD1):c.11048dup (p.Thr3684fs) rs1596485991
NM_001009944.3(PKD1):c.11078C>A (p.Ser3693Ter) rs745912756
NM_001009944.3(PKD1):c.11137dup (p.Ala3713fs) rs1555446582
NM_001009944.3(PKD1):c.11156+1G>C rs1596485727
NM_001009944.3(PKD1):c.11270-10T>A rs1567154300
NM_001009944.3(PKD1):c.11277C>G (p.Tyr3759Ter) rs369825780
NM_001009944.3(PKD1):c.11305_11306del (p.Thr3769fs) rs1555446053
NM_001009944.3(PKD1):c.11338_11344dup (p.Asp3782fs) rs1555445999
NM_001009944.3(PKD1):c.11367_11368del (p.His3789fs) rs2091616873
NM_001009944.3(PKD1):c.11375C>A (p.Ser3792Ter) rs770667157
NM_001009944.3(PKD1):c.11563_11564del (p.Thr3855fs) rs1555445585
NM_001009944.3(PKD1):c.11684C>T (p.Ala3895Val) rs1251469390
NM_001009944.3(PKD1):c.11858T>C (p.Leu3953Pro) rs1596476599
NM_001009944.3(PKD1):c.12217_12221del (p.Thr4073fs) rs1567146946
NM_001009944.3(PKD1):c.12310_12311del (p.Val4104fs) rs1060499718
NM_001009944.3(PKD1):c.12348del (p.Glu4116fs) rs1596473420
NM_001009944.3(PKD1):c.12425G>T (p.Gly4142Val) rs757407982
NM_001009944.3(PKD1):c.12489_12490del (p.Arg4164fs) rs2091411664
NM_001009944.3(PKD1):c.12490del (p.Arg4164fs) rs1596472276
NM_001009944.3(PKD1):c.1261C>T (p.Arg421Cys) rs1567216536
NM_001009944.3(PKD1):c.1295C>A (p.Ala432Glu) rs1060499699
NM_001009944.3(PKD1):c.1347_1356delinsAC (p.Ser449fs) rs1567216323
NM_001009944.3(PKD1):c.1584C>A (p.Tyr528Ter) rs1401015526
NM_001009944.3(PKD1):c.215T>A (p.Leu72Gln) rs1596636573
NM_001009944.3(PKD1):c.2540T>C (p.Leu847Pro) rs1596576007
NM_001009944.3(PKD1):c.2667dup (p.Asn890fs) rs2092593686
NM_001009944.3(PKD1):c.2861del (p.Ser954fs) rs1555457482
NM_001009944.3(PKD1):c.3071delinsCCC (p.Val1024fs) rs1567206904
NM_001009944.3(PKD1):c.322G>T (p.Glu108Ter) rs1416011785
NM_001009944.3(PKD1):c.3262_3263insT (p.Glu1088fs) rs1596566156
NM_001009944.3(PKD1):c.3283_3285del (p.Tyr1095del) rs2092536449
NM_001009944.3(PKD1):c.3415_3423del (p.Val1139_Gly1141del) rs1060499705
NM_001009944.3(PKD1):c.3436T>G (p.Phe1146Val) rs1555456744
NM_001009944.3(PKD1):c.3482G>A (p.Trp1161Ter) rs1205064584
NM_001009944.3(PKD1):c.3543T>A (p.Tyr1181Ter) rs1057516206
NM_001009944.3(PKD1):c.3729G>A (p.Trp1243Ter) rs2092501936
NM_001009944.3(PKD1):c.3850del (p.Ala1284fs) rs1567202350
NM_001009944.3(PKD1):c.404G>A (p.Trp135Ter) rs1567219111
NM_001009944.3(PKD1):c.4544A>C (p.His1515Pro) rs2092477293
NM_001009944.3(PKD1):c.4601_4602delinsTT (p.Ser1534Ile) rs1596558469
NM_001009944.3(PKD1):c.4631T>G (p.Val1544Gly) rs1555455904
NM_001009944.3(PKD1):c.4709del (p.Thr1570fs) rs1555455797
NM_001009944.3(PKD1):c.4832_4836dup (p.Ala1613fs) rs1596557533
NM_001009944.3(PKD1):c.488G>T (p.Gly163Val) rs1282205691
NM_001009944.3(PKD1):c.5830G>T (p.Gly1944Ter) rs200001471
NM_001009944.3(PKD1):c.5855dup (p.Lys1953fs) rs1555454886
NM_001009944.3(PKD1):c.5953G>A (p.Ala1985Thr) rs771005067
NM_001009944.3(PKD1):c.6197T>C (p.Leu2066Pro) rs1555454606
NM_001009944.3(PKD1):c.6299C>A (p.Ser2100Ter) rs539793378
NM_001009944.3(PKD1):c.641G>A (p.Cys214Tyr) rs1596590574
NM_001009944.3(PKD1):c.6424del (p.Gln2142fs) rs1060499702
NM_001009944.3(PKD1):c.6683A>G (p.Tyr2228Cys) rs1596550613
NM_001009944.3(PKD1):c.6736C>T (p.Gln2246Ter) rs1567191534
NM_001009944.3(PKD1):c.6746T>A (p.Val2249Glu) rs1555454223
NM_001009944.3(PKD1):c.6913_6914del (p.Gln2305fs) rs1555454075
NM_001009944.3(PKD1):c.7010C>A (p.Thr2337Asn) rs1060499713
NM_001009944.3(PKD1):c.7428C>A (p.Cys2476Ter) rs1453883641
NM_001009944.3(PKD1):c.7861G>T (p.Glu2621Ter) rs762003393
NM_001009944.3(PKD1):c.8203_8204del (p.Gln2735fs) rs1596527744
NM_001009944.3(PKD1):c.8272G>C (p.Ala2758Pro) rs2092204988
NM_001009944.3(PKD1):c.8320del (p.Pro2773_Leu2774insTer) rs2092202749
NM_001009944.3(PKD1):c.8381T>C (p.Leu2794Pro) rs1596527065
NM_001009944.3(PKD1):c.8611G>C (p.Ala2871Pro) rs556305338
NM_001009944.3(PKD1):c.8762A>G (p.His2921Arg) rs1555450920
NM_001009944.3(PKD1):c.8873C>A (p.Ser2958Ter) rs750780241
NM_001009944.3(PKD1):c.896_897del (p.Pro299fs) rs1555459084
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.9397+3G>C rs1555450109
NM_001009944.3(PKD1):c.9415G>A (p.Gly3139Ser) rs1165123201
NM_001009944.3(PKD1):c.9455_9516dup (p.Pro3173fs) rs1596514864
NM_001009944.3(PKD1):c.9458_9484inv (p.His3153_Arg3162delinsArgTrpLysAlaLeuSerProSerArgCys)
NM_001009944.3(PKD1):c.9568G>T (p.Gly3190Trp) rs1060499704
NM_001009944.3(PKD1):c.9601_9603del (p.Ile3201del) rs1394021424
NM_001009944.3(PKD1):c.9611A>C (p.Asp3204Ala) rs1596513913
NM_001009944.3(PKD1):c.9755_9757del (p.Glu3252_Leu3253delinsVal) rs1057516202
NM_001009944.3(PKD1):c.9788G>C (p.Trp3263Ser) rs1555449378
NM_001009944.3(PKD1):c.9867C>A (p.Cys3289Ter) rs1420757773
NM_001009944.3(PKD1):c.9881C>A (p.Ala3294Asp) rs1596512512
Single allele

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.