ClinVar Miner

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

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_152783.5(D2HGDH):c.1276G>A (p.Ala426Thr) rs146578303 0.00633
NM_152783.5(D2HGDH):c.720C>A (p.Thr240=) rs147210645 0.00323
NM_152783.5(D2HGDH):c.*40C>T rs139456115 0.00309
NM_152783.5(D2HGDH):c.423C>T (p.Pro141=) rs142473303 0.00176
NM_152783.5(D2HGDH):c.*410G>A rs568821876 0.00159
NM_152783.5(D2HGDH):c.-92-4C>G rs146482048 0.00071
NM_152783.5(D2HGDH):c.1386C>T (p.Tyr462=) rs201294258 0.00019
NM_152783.5(D2HGDH):c.*474C>T rs570372209 0.00013
NM_152783.5(D2HGDH):c.517G>A (p.Val173Ile) rs146408017 0.00011

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