ClinVar Miner

List of variants studied 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: 13
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NM_000277.3(PAH):c.506G>A (p.Arg169His) rs199475679
NM_001289910.1(IDH2):c.263G>A (p.Arg88Gln) rs121913502
NM_005881.4(BCKDK):c.453C>G (p.Tyr151Ter) rs369521689
NM_024884.3(L2HGDH):c.1015del (p.Arg339fs) rs1555328749
NM_024884.3(L2HGDH):c.1115del (p.Met372fs) rs786200869
NM_024884.3(L2HGDH):c.465del (p.Gly156fs) rs797045678
NM_024884.3(L2HGDH):c.584A>G (p.Tyr195Cys) rs887386390
NM_024884.3(L2HGDH):c.627A>G (p.Ala209=) rs564306903
NM_152783.5(D2HGDH):c.1027del (p.Ser343fs) rs797045506
NM_152783.5(D2HGDH):c.1184G>A (p.Arg395Gln) rs201921601
NM_152783.5(D2HGDH):c.1258G>A (p.Ala420Thr) rs149504235
NM_152783.5(D2HGDH):c.1306+2T>C rs797045507
NM_152783.5(D2HGDH):c.566C>T (p.Pro189Leu) rs587783517

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