List of variants reported as pathogenic for amino acid metabolism disease by Laboratory of Medical Genetics, National & Kapodistrian University of Athens

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Total variants: 13

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HGVS	dbSNP	gnomAD frequency
NM_000372.5(TYR):c.1037-7T>A	rs61754381	0.00051
NM_000187.4(HGD):c.481G>A (p.Gly161Arg)	rs28941783	0.00016
NM_000187.4(HGD):c.16-1G>A	rs397515347	0.00004
NM_003060.4(SLC22A5):c.1319C>T (p.Thr440Met)	rs72552732	0.00004
NM_000016.6(ACADM):c.244dup (p.Trp82fs)	rs786204566	0.00002
NM_000182.5(HADHA):c.1678C>T (p.Arg560Ter)	rs137852771	0.00002
NM_014049.5(ACAD9):c.796C>T (p.Arg266Trp)	rs753711253	0.00002
NM_001080.3(ALDH5A1):c.1226G>A (p.Gly409Asp)	rs118203984	0.00001
NM_145261.4(DNAJC19):c.62dup (p.Tyr21Ter)	rs1560040369	0.00001
NM_000372.5(TYR):c.859dup (p.Ser287fs)	rs2135253148
NM_005530.3(IDH3A):c.364G>A (p.Ala122Thr)	rs756333430
NM_006343.3(MERTK):c.1647T>G (p.Tyr549Ter)	rs1676862579
NM_014049.5(ACAD9):c.1162G>A (p.Glu388Lys)

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