ClinVar Miner

List of variants in gene combination IDH2, IDH2-DT reported as uncertain significance for D-2-hydroxyglutaric aciduria 2

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 9
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_002168.4(IDH2):c.23T>C (p.Val8Ala) rs369445642 0.00231
NM_002168.4(IDH2):c.62G>C (p.Trp21Ser) rs776341694 0.00006
NM_002168.4(IDH2):c.65C>T (p.Ala22Val) rs770871840 0.00005
NM_002168.4(IDH2):c.68C>G (p.Pro23Arg) rs746881165 0.00002
NM_002168.4(IDH2):c.104C>A (p.Pro35Gln)
NM_002168.4(IDH2):c.109C>T (p.Arg37Cys) rs1567261734
NM_002168.4(IDH2):c.29C>T (p.Ser10Leu) rs1234438811
NM_002168.4(IDH2):c.62G>A (p.Trp21Ter)
NM_002168.4(IDH2):c.88A>T (p.Thr30Ser)

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.