ClinVar Miner

List of variants studied for amino acid or protein metabolism disease with epilepsy by The Molecular Genetic Diagnosis Center, Children’s Hospital of Fudan University

Included ClinVar conditions (24):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 8
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HGVS dbSNP
NM_000277.3(PAH):c.1102G>A (p.Glu368Lys) rs1488232864
NM_000277.3(PAH):c.1109A>G (p.Glu370Gly) rs1592947508
NM_000277.3(PAH):c.1200-2A>C rs1592945607
NM_000277.3(PAH):c.1304A>T (p.Asp435Val) rs1592945394
NM_000277.3(PAH):c.1316-1G>A rs1592944816
NM_000277.3(PAH):c.32T>A (p.Leu11Ter) rs1346707834
NM_000277.3(PAH):c.346_347del (p.Asp116fs) rs1592978629
NM_000277.3(PAH):c.590T>A (p.Leu197Ter) rs886042078

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