ClinVar Miner

List of variants reported as uncertain significance for amino acid or protein metabolism disease with epilepsy by Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City

Included ClinVar conditions (24):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 2
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HGVS dbSNP
NM_000170.3(GLDC):c.2901G>C (p.Glu967Asp) rs1587908683
NM_004483.5(GCSH):c.413G>A (p.Cys138Tyr) rs540817676

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