ClinVar Miner

List of variants in gene IDH2 studied for amino acid or protein metabolism disease with epilepsy

Included ClinVar conditions (24):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 26
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HGVS dbSNP
NM_001289910.1(IDH2):c.1148C>T (p.Thr383Met) rs118053940
NM_001289910.1(IDH2):c.171G>A (p.Val57=) rs150943639
NM_001289910.1(IDH2):c.204G>A (p.Glu68=) rs536071174
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.273G>C (p.Leu91=) rs144712130
NM_001289910.1(IDH2):c.432C>G (p.Phe144Leu)
NM_001289910.1(IDH2):c.517G>A (p.Asp173Asn) rs142816010
NM_001289910.1(IDH2):c.626G>A (p.Arg209His) rs118101777
NM_001289910.1(IDH2):c.688A>G (p.Lys230Glu)
NM_001289910.1(IDH2):c.783A>G (p.Gly261=) rs16943901
NM_001289910.1(IDH2):c.837G>A (p.Thr279=) rs61737002
NM_001289910.1(IDH2):c.882C>T (p.Ala294=) rs190078206
NM_001289910.1(IDH2):c.894C>T (p.Thr298=) rs11540478
NM_001289910.1(IDH2):c.973C>T (p.Arg325Cys)
NM_002168.4(IDH2):c.1003G>A (p.Val335Ile)
NM_002168.4(IDH2):c.1039G>A (p.Ala347Thr)
NM_002168.4(IDH2):c.120C>T (p.Ala40=)
NM_002168.4(IDH2):c.1302C>G (p.Thr434=)
NM_002168.4(IDH2):c.137T>A (p.Val46Glu)
NM_002168.4(IDH2):c.141G>A (p.Ala47=)
NM_002168.4(IDH2):c.207+4G>A
NM_002168.4(IDH2):c.276T>C (p.Thr92=)
NM_002168.4(IDH2):c.293T>C (p.Ile98Thr)
NM_002168.4(IDH2):c.535-6C>T
NM_002168.4(IDH2):c.942T>C (p.Asp314=)

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