ClinVar Miner

List of variants studied for Non-ketotic hyperglycinemia by Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University

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Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_000170.3(GLDC):c.2240T>A (p.Val747Asp) rs1563835004
NM_000170.3(GLDC):c.422G>A (p.Cys141Tyr) rs1563864774
NM_000481.4(AMT):c.20_21del (p.Val7fs) rs1575309867
NM_000481.4(AMT):c.982dup (p.Ala328fs) rs1553638266

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