List of variants reported as likely pathogenic for amino acid metabolism disease by Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_003060.4(SLC22A5):c.364G>T (p.Asp122Tyr)	rs201082652	0.00043
NM_024818.6(UBA5):c.215G>A (p.Arg72His)	rs150313260	0.00004
NM_001271.4(CHD2):c.789dup (p.Glu264Ter)	rs2053388293

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