ClinVar Miner

List of variants in gene L2HGDH reported as benign for L-2-hydroxyglutaric aciduria

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 16
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_024884.3(L2HGDH):c.159C>T (p.Ile53=) rs2297995 0.57826
NM_024884.3(L2HGDH):c.703+12T>C rs12433038 0.50530
NM_024884.3(L2HGDH):c.840A>G (p.Pro280=) rs72683923 0.01007
NM_024884.3(L2HGDH):c.738+15G>A rs73275195 0.00809
NM_024884.3(L2HGDH):c.1100A>G (p.Tyr367Cys) rs115954396 0.00315
NM_024884.3(L2HGDH):c.408+14T>C rs77736285 0.00215
NM_024884.3(L2HGDH):c.510G>A (p.Glu170=) rs151305613 0.00106
NM_024884.3(L2HGDH):c.1269A>G (p.Ala423=) rs369101323 0.00018
NM_024884.3(L2HGDH):c.1353A>G (p.Gly451=) rs192927318 0.00007
NM_024884.3(L2HGDH):c.1065-13dup rs780995124
NM_024884.3(L2HGDH):c.1065-14_1065-13del rs780995124
NM_024884.3(L2HGDH):c.336A>G (p.Leu112=) rs59390116
NM_024884.3(L2HGDH):c.409-15dup rs368650202
NM_024884.3(L2HGDH):c.409-5del rs368650202
NM_024884.3(L2HGDH):c.647A>G (p.Asn216Ser) rs574500803
NM_024884.3(L2HGDH):c.704-4dup rs775844474

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.