ClinVar Miner

List of variants studied for L-2-hydroxyglutaric aciduria by Genome-Nilou Lab

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_024884.3(L2HGDH):c.53T>G (p.Leu18Arg) rs2275591 0.58246
NM_024884.3(L2HGDH):c.159C>T (p.Ile53=) rs2297995 0.57826
NM_024884.3(L2HGDH):c.703+12T>C rs12433038 0.50530

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.