ClinVar Miner

List of variants in gene D2HGDH reported as likely benign 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: 12
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HGVS dbSNP
NM_152783.5(D2HGDH):c.*40C>T
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.1140+8G>A rs369135156
NM_152783.5(D2HGDH):c.1276G>A (p.Ala426Thr) rs146578303
NM_152783.5(D2HGDH):c.1386C>T (p.Tyr462=)
NM_152783.5(D2HGDH):c.351-8C>T
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
NM_152783.5(D2HGDH):c.963C>T (p.Val321=)

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