ClinVar Miner

List of variants in gene PKD2 reported as uncertain significance by GeneDx

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 25
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000297.4(PKD2):c.1459T>C (p.Tyr487His) rs201328200 0.00014
NM_000297.4(PKD2):c.2543G>A (p.Arg848Gln) rs201598917 0.00003
NM_000297.4(PKD2):c.1394A>G (p.Tyr465Cys) rs773998492 0.00002
NM_000297.4(PKD2):c.2560G>A (p.Gly854Ser) rs1334898127 0.00001
NM_000297.4(PKD2):c.2714T>C (p.Met905Thr) rs373039260 0.00001
NM_000297.4(PKD2):c.614T>A (p.Leu205His) rs1064796616 0.00001
NM_000297.4(PKD2):c.1043A>G (p.Tyr348Cys)
NM_000297.4(PKD2):c.1057G>A (p.Glu353Lys) rs375164861
NM_000297.4(PKD2):c.1258A>G (p.Arg420Gly) rs1727651995
NM_000297.4(PKD2):c.1319+5G>A rs2110112343
NM_000297.4(PKD2):c.1349G>A (p.Gly450Asp) rs1578135842
NM_000297.4(PKD2):c.1765A>G (p.Thr589Ala) rs777230304
NM_000297.4(PKD2):c.2208_2213del (p.Leu736_Asn737del) rs778896252
NM_000297.4(PKD2):c.2291A>T (p.Gln764Leu) rs1553927827
NM_000297.4(PKD2):c.2500G>A (p.Val834Ile)
NM_000297.4(PKD2):c.2627A>G (p.Lys876Arg) rs2110150855
NM_000297.4(PKD2):c.2719C>T (p.Arg907Trp)
NM_000297.4(PKD2):c.2729G>C (p.Arg910Pro) rs144590958
NM_000297.4(PKD2):c.596-59A>G
NM_000297.4(PKD2):c.710-10T>C
NM_000297.4(PKD2):c.773T>C (p.Leu258Pro) rs2110104859
NM_000297.4(PKD2):c.779C>A (p.Thr260Asn)
NM_000297.4(PKD2):c.832G>T (p.Asp278Tyr)
NM_000297.4(PKD2):c.838T>C (p.Trp280Arg) rs2110104970
NM_000297.4(PKD2):c.915C>A (p.Asn305Lys)

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.