ClinVar Miner

List of variants reported as likely pathogenic 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: 4
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NM_000277.3(PAH):c.506G>A (p.Arg169His) rs199475679
NM_005881.4(BCKDK):c.453C>G (p.Tyr151Ter) rs369521689
NM_024884.3(L2HGDH):c.584A>G (p.Tyr195Cys) rs887386390
NM_152783.5(D2HGDH):c.1306+2T>C rs797045507

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