ClinVar Miner

List of variants in gene D2HGDH reported as likely benign for 2-hydroxyglutaric aciduria

Included ClinVar conditions (5):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 16
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NM_152783.5(D2HGDH):c.*254G>A rs6713318
NM_152783.5(D2HGDH):c.*266G>A rs145823152
NM_152783.5(D2HGDH):c.*27C>T rs150707660
NM_152783.5(D2HGDH):c.*427G>A rs142873084
NM_152783.5(D2HGDH):c.*661C>T rs113372064
NM_152783.5(D2HGDH):c.*688G>A rs6716743
NM_152783.5(D2HGDH):c.*801A>G rs35671465
NM_152783.5(D2HGDH):c.*93T>C rs11552660
NM_152783.5(D2HGDH):c.-91C>G rs62191976
NM_152783.5(D2HGDH):c.1063G>A (p.Gly355Ser) rs139321130
NM_152783.5(D2HGDH):c.1066C>T (p.His356Tyr) rs144668507
NM_152783.5(D2HGDH):c.1107T>C (p.Asp369=) rs141343442
NM_152783.5(D2HGDH):c.1276G>A (p.Ala426Thr) rs146578303
NM_152783.5(D2HGDH):c.1377C>A (p.Pro459=) rs143940595
NM_152783.5(D2HGDH):c.1395G>A (p.Thr465=) rs111670322
NM_152783.5(D2HGDH):c.292+9G>A rs148813816

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