List of variants reported as pathogenic for amino acid metabolism disease by Center of Genomic medicine, Geneva, University Hospital of Geneva

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Total variants: 7

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HGVS	dbSNP	gnomAD frequency
NM_000372.5(TYR):c.980A>G (p.Tyr327Cys)	rs1031268531	0.00004
NM_000156.6(GAMT):c.506G>A (p.Cys169Tyr)	rs121909272	0.00002
NM_000156.6(GAMT):c.145del (p.Tyr49fs)	rs1384688313	0.00001
NM_000372.5(TYR):c.1267del (p.Glu423fs)	rs1565423674
NM_000372.5(TYR):c.387_389delinsGG (p.Glu130fs)	rs1565386582
NM_005271.5(GLUD1):c.1496G>T (p.Gly499Val)	rs121909734
NM_014270.5(SLC7A9):c.1224+4167_1324del

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