ClinVar Miner

List of variants reported as benign for 2-hydroxyglutaric aciduria by Invitae

Included ClinVar conditions (5):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
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HGVS dbSNP
NM_002168.3(IDH2):c.1050C>T (p.Thr350=) rs11540478
NM_024884.3(L2HGDH):c.99G>T (p.Arg33Ser) rs35710558
NM_152783.5(D2HGDH):c.423C>T (p.Pro141=) rs142473303

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