ClinVar Miner

List of variants reported as pathogenic for amino acid or protein metabolism disease with epilepsy by Biochemistry Laboratory of CDMU,Chengde Medical University

Included ClinVar conditions (24):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 2
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NM_000277.3(PAH):c.728G>A (p.Arg243Gln) rs62508588
NM_000277.3(PAH):c.875C>T (p.Pro292Leu) rs1200240274

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