ClinVar Miner

List of variants studied for 2-hydroxyglutaric aciduria by Mendelics

Included ClinVar conditions (5):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
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HGVS dbSNP
NM_001289910.1(IDH2):c.263G>A (p.Arg88Gln) rs121913502
NM_024884.3(L2HGDH):c.1100A>G (p.Tyr367Cys) rs115954396
NM_152783.5(D2HGDH):c.1276G>A (p.Ala426Thr) rs146578303
NM_152783.5(D2HGDH):c.854-1200C>T

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