ClinVar Miner

List of variants reported as likely benign for Deficiency of 2-methylbutyryl-CoA dehydrogenase by Invitae

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Total variants: 11
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NM_001609.3(ACADSB):c.795C>T (p.Phe265=) rs150619709
NM_001609.4(ACADSB):c.1101G>A (p.Ala367=) rs145295182
NM_001609.4(ACADSB):c.159C>T (p.Pro53=)
NM_001609.4(ACADSB):c.452G>A (p.Arg151Lys) rs140747102
NM_001609.4(ACADSB):c.555A>G (p.Ser185=)
NM_001609.4(ACADSB):c.675T>C (p.Pro225=)
NM_001609.4(ACADSB):c.757T>C (p.Leu253=)
NM_001609.4(ACADSB):c.915G>A (p.Ala305=)
NM_001609.4(ACADSB):c.960A>T (p.Ile320=) rs147531541

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