ClinVar Miner

List of variants studied for amino acid or protein metabolism disease with epilepsy by Ege University Pediatric Genetics,Ege University

Included ClinVar conditions (24):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
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HGVS dbSNP
NM_000170.2(GLDC):c.1337del (p.Val446fs) rs1587951033
NM_000170.2(GLDC):c.1707+5G>C rs1587947174
NM_000481.4(AMT):c.341G>A (p.Gly114Glu) rs1575306589

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