ClinVar Miner

List of variants reported as pathogenic for Deficiency of butyryl-CoA dehydrogenase by Laboratory of Medical Genetics, National & Kapodistrian University of Athens

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_000017.4(ACADS):c.989G>A (p.Arg330His)	rs199633532	0.00009
NM_000017.4(ACADS):c.1138C>T (p.Arg380Trp)	rs28940875	0.00004
NM_000017.4(ACADS):c.1A>G (p.Met1Val)	rs1291226969	0.00001

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