ClinVar Miner

List of variants reported as likely benign for D-2-hydroxyglutaric aciduria 1 by Illumina Clinical Services Laboratory,Illumina

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Total variants: 9
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NM_152783.5(D2HGDH):c.*410G>A rs568821876
NM_152783.5(D2HGDH):c.*474C>T rs570372209
NM_152783.5(D2HGDH):c.-92-4C>G rs146482048
NM_152783.5(D2HGDH):c.1276G>A (p.Ala426Thr) rs146578303
NM_152783.5(D2HGDH):c.1386C>T (p.Tyr462=) rs201294258
NM_152783.5(D2HGDH):c.423C>T (p.Pro141=) rs142473303
NM_152783.5(D2HGDH):c.517G>A (p.Val173Ile) rs146408017
NM_152783.5(D2HGDH):c.720C>A (p.Thr240=) rs147210645

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