ClinVar Miner

List of variants in gene D2HGDH reported as pathogenic 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: 11
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NM_152783.5(D2HGDH):c.1027del (p.Ser343fs) rs797045506
NM_152783.5(D2HGDH):c.1123G>T (p.Asp375Tyr) rs267606759
NM_152783.5(D2HGDH):c.1315A>G (p.Asn439Asp) rs121434362
NM_152783.5(D2HGDH):c.1331T>C (p.Val444Ala) rs121434360
NM_152783.5(D2HGDH):c.293-23A>G rs145731647
NM_152783.5(D2HGDH):c.325_326dup (p.Glu110fs) rs749330477
NM_152783.5(D2HGDH):c.440T>G (p.Ile147Ser) rs121434361
NM_152783.5(D2HGDH):c.566C>T (p.Pro189Leu) rs587783517
NM_152783.5(D2HGDH):c.642del (p.Arg215fs) rs1559361049
NM_152783.5(D2HGDH):c.685-2A>G rs753528947

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