List of variants reported as pathogenic for Deficiency of butyryl-CoA dehydrogenase by Fulgent Genetics, Fulgent Genetics

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Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_000017.4(ACADS):c.529T>C (p.Trp177Arg)	rs57443665	0.00202
NM_000017.4(ACADS):c.319C>T (p.Arg107Cys)	rs61732144	0.00055
NM_000017.4(ACADS):c.1138C>T (p.Arg380Trp)	rs28940875	0.00004
NM_000017.4(ACADS):c.1031A>G (p.Glu344Gly)	rs387906950	0.00001
NM_000017.4(ACADS):c.307GAG[1] (p.Glu104del)	rs387906308

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