ClinVar Miner

List of variants reported as likely pathogenic for 2-hydroxyglutaric aciduria

Included ClinVar conditions (5):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 6
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HGVS dbSNP
NM_001289910.1(IDH2):c.263G>A (p.Arg88Gln) rs121913502
NM_002168.4(IDH2):c.1039G>A (p.Ala347Thr)
NM_005984.5(SLC25A1):c.844C>T (p.Arg282Cys) rs431905509
NM_024884.3(L2HGDH):c.584A>G (p.Tyr195Cys) rs887386390
NM_152783.5(D2HGDH):c.1306+2T>C rs797045507
NM_152783.5(D2HGDH):c.853+2T>C rs1559364994

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