ClinVar Miner

List of variants reported as likely pathogenic for Polycystic kidney disease

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 29
Download table as spreadsheet
HGVS dbSNP
NM_000297.4(PKD2):c.1898+5G>A rs1553926929
NM_000297.4(PKD2):c.2208_2213del (p.Leu736_Asn737del) rs778896252
NM_001009944.3(PKD1):c.10619-1G>A rs1567159074
NM_001009944.3(PKD1):c.11017-10C>A rs555703777
NM_001009944.3(PKD1):c.1141G>A (p.Gly381Ser) rs1303102528
NM_001009944.3(PKD1):c.1202-2A>T
NM_001009944.3(PKD1):c.12391_12393del (p.Glu4131del) rs1555444468
NM_001009944.3(PKD1):c.12712C>T (p.Gln4238Ter) rs1045675831
NM_001009944.3(PKD1):c.1294G>A (p.Ala432Thr)
NM_001009944.3(PKD1):c.1831C>T (p.Arg611Trp) rs1555458413
NM_001009944.3(PKD1):c.2534T>C (p.Leu845Ser) rs199476100
NM_001009944.3(PKD1):c.3696CGC[1] (p.Ala1234del)
NM_001009944.3(PKD1):c.3716ACA[1] (p.Asn1240del) rs1567202750
NM_001009944.3(PKD1):c.6832G>A (p.Gly2278Arg) rs1555454145
NM_001009944.3(PKD1):c.6916-9G>A rs1567190244
NM_001009944.3(PKD1):c.7927C>T (p.Arg2643Cys)
NM_001009944.3(PKD1):c.8022del (p.Ser2675fs)
NM_001009944.3(PKD1):c.8287_8289del (p.Leu2763del) rs1555451280
NM_001009944.3(PKD1):c.8293C>T (p.Arg2765Cys) rs144979397
NM_001009944.3(PKD1):c.8311G>A (p.Glu2771Lys) rs1057518897
NM_138694.4(PKHD1):c.1032_1033del (p.Glu345fs) rs1446729264
NM_138694.4(PKHD1):c.107C>T (p.Thr36Met) rs137852944
NM_138694.4(PKHD1):c.1156AAT[1] (p.Asn387del) rs1554218506
NM_138694.4(PKHD1):c.12029A>C (p.Gln4010Pro)
NM_138694.4(PKHD1):c.3467C>T (p.Ser1156Leu) rs367707903
NM_138694.4(PKHD1):c.4870C>T (p.Arg1624Trp) rs200391019
NM_138694.4(PKHD1):c.5935G>A (p.Gly1979Arg)
NM_138694.4(PKHD1):c.6992T>A (p.Ile2331Lys) rs200179145
NM_138694.4(PKHD1):c.9146A>G (p.His3049Arg) rs367678592

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.