List of variants reported as likely pathogenic for amino acid metabolism disease by Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics

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Total variants: 17

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HGVS	dbSNP	gnomAD frequency
NM_054012.4(ASS1):c.1168G>A (p.Gly390Arg)	rs121908641	0.00025
NM_000372.5(TYR):c.121G>A (p.Gly41Arg)	rs369291837	0.00002
NM_000019.4(ACAT1):c.1199A>G (p.His400Arg)	rs761086326	0.00001
NM_001003841.3(SLC6A19):c.284G>A (p.Arg95Gln)	rs201936518	0.00001
NM_000116.5(TAFAZZIN):c.836del (p.Thr279fs)	rs1557194525
NM_000159.4(GCDH):c.1207C>T (p.His403Tyr)	rs1599619080
NM_000159.4(GCDH):c.528C>G (p.Cys176Trp)	rs756345321
NM_000159.4(GCDH):c.881G>C (p.Arg294Pro)	rs775606471
NM_000161.3(GCH1):c.632T>C (p.Met211Thr)	rs1566658823
NM_000276.4(OCRL):c.985A>T (p.Arg329Ter)
NM_000329.3(RPE65):c.1418T>A (p.Val473Asp)	rs62637007
NM_000372.5(TYR):c.1037G>A (p.Gly346Glu)	rs773970123
NM_001010867.3(IBA57):c.[167G>A];[826C>T]
NM_001127222.2(CACNA1A):c.2134G>A (p.Ala712Thr)
NM_003748.4(ALDH4A1):c.363_370dup (p.Arg124fs)
NM_005271.5(GLUD1):c.965G>A (p.Arg322His)	rs121909737
NM_005957.5(MTHFR):c.476A>G (p.Asp159Gly)	rs1644355976

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