ClinVar Miner

List of variants reported as uncertain significance for amino acid or protein metabolism disease with epilepsy by Genetic Services Laboratory, University of Chicago

Included ClinVar conditions (24):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
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NM_024884.3(L2HGDH):c.627A>G (p.Ala209=) rs564306903
NM_152783.5(D2HGDH):c.1184G>A (p.Arg395Gln) rs201921601
NM_152783.5(D2HGDH):c.1258G>A (p.Ala420Thr) rs149504235

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