List of variants reported as pathogenic for amino acid metabolism disease by The Molecular Genetic and Pathologic Diagnosis Center of Neuromuscular Disorder, Children's Hospital of Fudan University

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Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_001010867.4(IBA57):c.286T>C (p.Tyr96His)	rs765926471
NM_001010867.4(IBA57):c.589_590del (p.Arg197fs)	rs2034988017
NM_001010867.4(IBA57):c.697C>T (p.Arg233Ter)	rs1261081427
NM_014362.4(HIBCH):c.835G>T (p.Glu279Ter)	rs1686562488

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