ClinVar Miner

List of variants reported as pathogenic for Primary hyperoxaluria by Sydney Genome Diagnostics,Children's Hospital Westmead

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
Download table as spreadsheet
NM_000030.3(AGXT):c.1049G>A (p.Gly350Asp) rs180177156
NM_000030.3(AGXT):c.364C>T (p.Arg122Ter) rs180177210
NM_012203.2(GRHPR):c.295C>T (p.Arg99Ter) rs119490108

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.