List of variants reported as pathogenic for amino acid metabolism disease by Reproductive Health Research and Development, BGI Genomics

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Total variants: 17

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HGVS	dbSNP	gnomAD frequency
NM_000372.5(TYR):c.1217C>T (p.Pro406Leu)	rs104894313	0.00375
NM_000016.6(ACADM):c.985A>G (p.Lys329Glu)	rs77931234	0.00363
NM_014270.5(SLC7A9):c.544G>A (p.Ala182Thr)	rs79389353	0.00238
NM_000017.4(ACADS):c.529T>C (p.Trp177Arg)	rs57443665	0.00202
NM_000341.4(SLC3A1):c.1400T>C (p.Met467Thr)	rs121912691	0.00175
NM_024818.6(UBA5):c.1111G>A (p.Ala371Thr)	rs114925667	0.00169
NM_001142800.2(EYS):c.1155T>A (p.Cys385Ter)	rs143994166	0.00064
NM_020949.3(SLC7A14):c.988G>A (p.Gly330Arg)	rs2276717	0.00058
NM_000017.4(ACADS):c.319C>T (p.Arg107Cys)	rs61732144	0.00055
NM_000372.5(TYR):c.1037-7T>A	rs61754381	0.00051
NM_001142800.2(EYS):c.2137+1G>A	rs199740930	0.00034
NM_018474.6(KIZ):c.226C>T (p.Arg76Ter)	rs202210819	0.00032
NM_000341.4(SLC3A1):c.808C>T (p.Arg270Ter)	rs200483989	0.00019
NM_000108.5(DLD):c.685G>T (p.Gly229Cys)	rs121964990	0.00016
NM_205861.3(DHDDS):c.124A>G (p.Lys42Glu)	rs147394623	0.00015
NM_183050.4(BCKDHB):c.548G>C (p.Arg183Pro)	rs79761867	0.00010
NM_001142800.2(EYS):c.8648_8655del (p.Thr2883fs)	rs528919874

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