ClinVar Miner

List of variants reported as likely pathogenic for Deficiency of 2-methylbutyryl-CoA dehydrogenase by Department of Pathology and Laboratory Medicine, Sinai Health System

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_001609.4(ACADSB):c.443C>T (p.Thr148Ile)	rs58639322	0.00071
NM_001609.4(ACADSB):c.375dup (p.Glu126fs)	rs756587384	0.00037
NM_001609.4(ACADSB):c.1159G>A (p.Glu387Lys)	rs188094280	0.00029

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