List of variants reported as likely pathogenic for amino acid metabolism disease by UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill

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Total variants: 6

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HGVS	dbSNP	gnomAD frequency
NM_000372.5(TYR):c.1217C>T (p.Pro406Leu)	rs104894313	0.00375
NM_014270.5(SLC7A9):c.544G>A (p.Ala182Thr)	rs79389353	0.00238
NM_206933.4(USH2A):c.6937G>T (p.Gly2313Cys)	rs199840367	0.00014
NM_000531.6(OTC):c.1061T>G (p.Phe354Cys)	rs72558495	0.00001
NM_020166.5(MCCC1):c.1483C>T (p.Gln495Ter)	rs1713700813	0.00001
NM_000276.4(OCRL):c.741G>A (p.Trp247Ter)	rs1936131926

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