ClinVar Miner

List of variants studied for Deficiency of butyryl-CoA dehydrogenase by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

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Total variants: 9
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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.1058C>T (p.Ser353Leu) rs28941773 0.00020
NM_000017.4(ACADS):c.136C>T (p.Arg46Trp) rs121908003 0.00008
NM_000017.4(ACADS):c.814C>T (p.Arg272Cys) rs539219309 0.00006
NM_000017.4(ACADS):c.1138C>T (p.Arg380Trp) rs28940875 0.00004
NM_000017.4(ACADS):c.164C>T (p.Pro55Leu) rs147442301 0.00001
NM_000017.4(ACADS):c.2T>C (p.Met1Thr)
NM_000017.4(ACADS):c.988_990delinsTGT (p.Arg330Cys) rs796051906

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