ClinVar Miner

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

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Total variants: 6
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NM_001609.3(ACADSB):c.1159G>A (p.Glu387Lys) rs188094280
NM_001609.3(ACADSB):c.1165A>G (p.Met389Val) rs201877440
NM_001609.3(ACADSB):c.443C>T (p.Thr148Ile) rs58639322
NM_001609.4(ACADSB):c.303+1G>A rs147936696
NM_001609.4(ACADSB):c.375dup (p.Glu126fs) rs756587384
NM_001609.4(ACADSB):c.653dup (p.Val219fs)

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