List of variants reported as pathogenic for amino acid metabolism disease by Ege University Pediatric Genetics, Ege University

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_000170.3(GLDC):c.1337del (p.Val446fs)	rs1587951033
NM_000282.4(PCCA):c.656dup (p.Ala220fs)	rs1594961338
NM_001918.5(DBT):c.898del (p.Ala300fs)	rs1570816218

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