ClinVar Miner

List of variants studied for amino acid or protein metabolism disease with epilepsy by SingHealth Duke-NUS Institute of Precision Medicine

Included ClinVar conditions (24):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
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NM_000170.2(GLDC):c.1545G>A (p.Arg515=) rs121964976
NM_000277.3(PAH):c.158G>A (p.Arg53His) rs118092776
NM_000277.3(PAH):c.721C>T (p.Arg241Cys) rs76687508
NM_001358530.2(MOCS1):c.1126A>T (p.Lys376Ter) rs1562085332
NM_004531.5(MOCS2):c.-633C>T rs121908607

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