ClinVar Miner

List of variants reported as pathogenic for amino acid or protein metabolism disease with epilepsy by Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine

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.693C>A (p.Tyr231Ter) rs12948217
NM_000049.4(ASPA):c.854A>C (p.Glu285Ala) rs28940279
NM_000071.3(CBS):c.833T>C (p.Ile278Thr) rs5742905
NM_000071.3(CBS):c.919G>A (p.Gly307Ser) rs121964962
NM_000170.2(GLDC):c.128del (p.Asp43fs) rs1251443902
NM_000277.3(PAH):c.1208C>T (p.Ala403Val) rs5030857
NM_000277.3(PAH):c.1241A>G (p.Tyr414Cys) rs5030860
NM_000277.3(PAH):c.691T>C (p.Ser231Pro) rs5030845
NM_000277.3(PAH):c.898G>T (p.Ala300Ser) rs5030853
NM_000481.4(AMT):c.870G>A (p.Trp290Ter) rs797045082

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