ClinVar Miner

List of variants reported as pathogenic for amino acid or protein metabolism disease with epilepsy by Genomic Research Center, Shahid Beheshti University of Medical Sciences

Included ClinVar conditions (24):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 10
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HGVS dbSNP
NM_000049.4(ASPA):c.309dup (p.Asp104fs)
NM_000049.4(ASPA):c.437_449del (p.Ser146fs)
NM_000071.2(CBS):c.341C>T (p.Ala114Val) rs121964964
NM_000170.2(GLDC):c.1940C>T (p.Pro647Leu) rs201135624
NM_000170.2(GLDC):c.2405C>T (p.Ala802Val) rs121964977
NM_000170.2(GLDC):c.2544C>G (p.Tyr848Ter) rs1554643354
NM_000277.3(PAH):c.473G>A (p.Arg158Gln) rs5030843
NM_000277.3(PAH):c.898G>T (p.Ala300Ser) rs5030853
NM_001321336.1(SPATA22):c.-73-12212dup rs756198538
NM_004531.5(MOCS2):c.2T>G (p.Met1Arg) rs772575104

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