ClinVar Miner

List of variants reported as pathogenic for Deficiency of butyryl-CoA dehydrogenase by Illumina Laboratory Services, Illumina

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
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.164C>T (p.Pro55Leu)	rs147442301	0.00001

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