List of variants in gene ACADSB reported as likely benign for 2-methylbutyryl-CoA dehydrogenase deficiency

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 52

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HGVS	dbSNP	gnomAD frequency
NM_001609.4(ACADSB):c.*3130A>G	rs41291348	0.00783
NM_001609.4(ACADSB):c.*3907C>G	rs185346880	0.00554
NM_001609.4(ACADSB):c.*30G>A	rs141805585	0.00359
NM_001609.4(ACADSB):c.*3517A>G	rs147760289	0.00241
NM_001609.4(ACADSB):c.*2086G>A	rs150796883	0.00231
NM_001609.4(ACADSB):c.*2227A>G	rs149926796	0.00192
NM_001609.4(ACADSB):c.*1326A>G	rs185596588	0.00179
NM_001609.4(ACADSB):c.*1826C>T	rs568834686	0.00143
NM_001609.4(ACADSB):c.452G>A (p.Arg151Lys)	rs140747102	0.00104
NM_001609.4(ACADSB):c.1228+8G>C	rs202191462	0.00058
NM_001609.4(ACADSB):c.*78C>T	rs117078411	0.00046
NM_001609.4(ACADSB):c.990+11A>T	rs376944892	0.00034
NM_001609.4(ACADSB):c.795C>T (p.Phe265=)	rs150619709	0.00017
NM_001609.4(ACADSB):c.*1445A>T	rs182952282	0.00016
NM_001609.4(ACADSB):c.*1920G>T	rs141894735	0.00016
NM_001609.4(ACADSB):c.960A>T (p.Ile320=)	rs147531541	0.00011
NM_001609.4(ACADSB):c.1101G>A (p.Ala367=)	rs145295182	0.00010
NM_001609.4(ACADSB):c.807+10G>A	rs367568388	0.00010
NM_001609.4(ACADSB):c.757T>C (p.Leu253=)	rs776888756	0.00006
NM_001609.4(ACADSB):c.603C>G (p.Leu201=)	rs368834489	0.00005
NM_001609.4(ACADSB):c.682-20G>A	rs142778552	0.00005
NM_001609.4(ACADSB):c.510+13G>C	rs773089971	0.00004
NM_001609.4(ACADSB):c.1026G>A (p.Gln342=)	rs755539165	0.00003
NM_001609.4(ACADSB):c.675T>C (p.Pro225=)	rs770933347	0.00003
NM_001609.4(ACADSB):c.915G>A (p.Ala305=)	rs371907721	0.00002
NM_001609.4(ACADSB):c.1233G>A (p.Thr411=)	rs755167353	0.00001
NM_001609.4(ACADSB):c.219G>A (p.Gln73=)	rs756256851	0.00001
NM_001609.4(ACADSB):c.426G>A (p.Gln142=)	rs748754507	0.00001
NM_001609.4(ACADSB):c.511-6A>G	rs773071242	0.00001
NM_001609.4(ACADSB):c.555A>G (p.Ser185=)	rs762414612	0.00001
NM_001609.4(ACADSB):c.669A>G (p.Val223=)	rs750818948	0.00001
NM_001609.4(ACADSB):c.681+14C>T	rs748185849	0.00001
NM_001609.3(ACADSB):c.-102dup	rs201117089
NM_001609.4(ACADSB):c.*2224A>G	rs192771453
NM_001609.4(ACADSB):c.1008G>A (p.Val336=)	rs1240421187
NM_001609.4(ACADSB):c.1041A>G (p.Arg347=)
NM_001609.4(ACADSB):c.1056T>C (p.Asn352=)
NM_001609.4(ACADSB):c.1062T>C (p.Ala354=)	rs886046780
NM_001609.4(ACADSB):c.1065G>A (p.Arg355=)
NM_001609.4(ACADSB):c.1128+20_1128+26dup	rs10571424
NM_001609.4(ACADSB):c.1228+20_1228+21del	rs11307362
NM_001609.4(ACADSB):c.1228+7A>G
NM_001609.4(ACADSB):c.159C>T (p.Pro53=)	rs1370145865
NM_001609.4(ACADSB):c.261G>A (p.Ser87=)
NM_001609.4(ACADSB):c.336A>G (p.Gly112=)
NM_001609.4(ACADSB):c.369C>T (p.Leu123=)
NM_001609.4(ACADSB):c.511-8A>G
NM_001609.4(ACADSB):c.6G>A (p.Glu2=)
NM_001609.4(ACADSB):c.808-18G>A
NM_001609.4(ACADSB):c.900+7C>G	rs2133484739
NM_001609.4(ACADSB):c.901-11T>G
NM_001609.4(ACADSB):c.939T>C (p.Ile313=)

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