List of variants reported as likely pathogenic for Deficiency of 2-methylbutyryl-CoA dehydrogenase by Labcorp Genetics (formerly Invitae), Labcorp

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Total variants: 7

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HGVS	dbSNP	gnomAD frequency
NM_001609.4(ACADSB):c.1128+1G>A	rs1564754571	0.00005
NM_001609.4(ACADSB):c.923G>A (p.Cys308Tyr)	rs770456976	0.00001
NM_001609.4(ACADSB):c.1128+1_1128+3del	rs1228768873
NM_001609.4(ACADSB):c.1228+1G>A	rs943046481
NM_001609.4(ACADSB):c.202+1G>C
NM_001609.4(ACADSB):c.596A>G (p.Tyr199Cys)
NM_001609.4(ACADSB):c.901-2A>G

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