ClinVar Miner

List of variants reported as likely benign for D-2-hydroxyglutaric aciduria 1 by Illumina Laboratory Services, Illumina

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 9
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_152783.5(D2HGDH):c.1276G>A (p.Ala426Thr) rs146578303 0.00633
NM_152783.5(D2HGDH):c.720C>A (p.Thr240=) rs147210645 0.00315
NM_152783.5(D2HGDH):c.*40C>T rs139456115 0.00286
NM_152783.5(D2HGDH):c.423C>T (p.Pro141=) rs142473303 0.00170
NM_152783.5(D2HGDH):c.*410G>A rs568821876 0.00159
NM_152783.5(D2HGDH):c.-92-4C>G rs146482048 0.00070
NM_152783.5(D2HGDH):c.*474C>T rs570372209 0.00040
NM_152783.5(D2HGDH):c.1386C>T (p.Tyr462=) rs201294258 0.00019
NM_152783.5(D2HGDH):c.517G>A (p.Val173Ile) rs146408017 0.00018

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.