ClinVar Miner

List of variants studied for amino acid or protein metabolism disease with epilepsy by Department of Genetics,Sultan Qaboos University Hospital, Oman

Included ClinVar conditions (24):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 6
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HGVS dbSNP
NM_000071.2(CBS):c.969G>A (p.Trp323Ter) rs863223432
NM_000170.2(GLDC):c.2240T>A (p.Val747Asp) rs1563835004
NM_000170.2(GLDC):c.422G>A (p.Cys141Tyr) rs1563864774
NM_000481.4(AMT):c.18_19TG[1] (p.Val7fs)
NM_000481.4(AMT):c.982dup (p.Ala328fs) rs1553638266
NM_001032386.2(SUOX):c.1388C>T (p.Ser463Phe) rs1565799921

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