ClinVar Miner

List of variants studied for Deficiency of butyryl-CoA dehydrogenase by Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine

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Total variants: 2
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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

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