List of variants reported as pathogenic for amino acid metabolism disease by Division of Human Genetics, Children's Hospital of Philadelphia

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Total variants: 10

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HGVS	dbSNP	gnomAD frequency
NM_001370658.1(BTD):c.1270G>C (p.Asp424His)	rs13078881	0.03225
NM_000277.3(PAH):c.1208C>T (p.Ala403Val)	rs5030857	0.00057
NM_001370658.1(BTD):c.1308A>C (p.Gln436His)	rs80338685	0.00046
NM_014249.4(NR2E3):c.119-2A>C	rs2723341	0.00038
NM_001609.4(ACADSB):c.303+1G>A	rs147936696	0.00037
NM_000277.3(PAH):c.1139C>T (p.Thr380Met)	rs62642937	0.00036
NM_000277.3(PAH):c.194T>C (p.Ile65Thr)	rs75193786	0.00032
NM_172250.3(MMAA):c.433C>T (p.Arg145Ter)	rs104893851	0.00017
NM_000170.3(GLDC):c.499G>T (p.Glu167Ter)	rs191905539	0.00012
NM_015506.3(MMACHC):c.270dup (p.Arg91Ter)	rs1553162786

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