ClinVar Miner

List of variants studied for Primary hyperoxaluria by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 19
Download table as spreadsheet
NM_000030.3(AGXT):c.1084G>A (p.Gly362Ser) rs569643246
NM_000030.3(AGXT):c.116_117dup (p.Ala40fs) rs180177166
NM_000030.3(AGXT):c.126del (p.Leu43fs) rs180177171
NM_000030.3(AGXT):c.32C>G (p.Pro11Arg) rs34116584
NM_000030.3(AGXT):c.33del (p.Lys12fs) rs180177201
NM_000030.3(AGXT):c.33dup (p.Lys12fs) rs180177201
NM_000030.3(AGXT):c.447_454del (p.Leu151fs) rs180177221
NM_000030.3(AGXT):c.454T>A (p.Phe152Ile) rs121908524
NM_000030.3(AGXT):c.508G>A (p.Gly170Arg) rs121908529
NM_000030.3(AGXT):c.519C>A (p.Cys173Ter) rs180177232
NM_000030.3(AGXT):c.577dup (p.Leu193fs) rs180177241
NM_000030.3(AGXT):c.731T>C (p.Ile244Thr) rs121908525
NM_000030.3(AGXT):c.777-1G>C rs180177267
NM_000030.3(AGXT):c.823_824dup (p.Ser275fs) rs180177273
NM_000030.3(AGXT):c.847-1G>C rs180177285
NM_000030.3(AGXT):c.976del (p.Val326fs) rs180177301
NM_012203.2(GRHPR):c.295C>T (p.Arg99Ter) rs119490108
NM_012203.2(GRHPR):c.494G>A (p.Gly165Asp) rs180177314
NM_012203.2(GRHPR):c.866_867del (p.Val289fs) rs180177321

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.