ClinVar Miner

List of variants reported as likely pathogenic for Polycystic kidney disease by Natera Inc

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
Download table as spreadsheet
HGVS dbSNP
NM_138694.4(PKHD1):c.1032_1033del (p.Glu345fs) rs1446729264
NM_138694.4(PKHD1):c.2216C>T (p.Pro739Leu) rs758352210
NM_138694.4(PKHD1):c.3368G>A (p.Gly1123Asp) rs148356158
NM_138694.4(PKHD1):c.3467C>T (p.Ser1156Leu) rs367707903
NM_138694.4(PKHD1):c.7734-4_7736delinsCTAGAGT rs1583055258

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.