ClinVar Miner

List of variants reported as pathogenic for Deficiency of butyryl-CoA dehydrogenase by Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center

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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_000017.4(ACADS):c.1147C>T (p.Arg383Cys)	rs28940872	0.00008
NM_000017.4(ACADS):c.136C>T (p.Arg46Trp)	rs121908003	0.00008

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