ClinVar Miner

List of variants in gene IDH2 studied for 2-hydroxyglutaric aciduria

Included ClinVar conditions (5):
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Gene type:
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Total variants: 7
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HGVS dbSNP
NM_001289910.1(IDH2):c.262C>G (p.Arg88Gly) rs267606870
NM_001289910.1(IDH2):c.263G>A (p.Arg88Gln) rs121913502
NM_001289910.1(IDH2):c.432C>G (p.Phe144Leu)
NM_001289910.1(IDH2):c.688A>G (p.Lys230Glu)
NM_001289910.1(IDH2):c.894C>T (p.Thr298=) rs11540478
NM_001289910.1(IDH2):c.973C>T (p.Arg325Cys)
NM_002168.4(IDH2):c.1039G>A (p.Ala347Thr)

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