ClinVar Miner

List of variants studied for Deficiency of butyryl-CoA dehydrogenase by Baylor Genetics

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Total variants: 4

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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.1058C>T (p.Ser353Leu)	rs28941773	0.00020
NM_000017.4(ACADS):c.1031A>G (p.Glu344Gly)	rs387906950	0.00001
NM_000017.4(ACADS):c.505A>C (p.Thr169Pro)	rs777002501

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