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

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Total variants: 18

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HGVS	dbSNP	gnomAD frequency
NM_001609.4(ACADSB):c.443C>T (p.Thr148Ile)	rs58639322	0.00060
NM_001609.4(ACADSB):c.303+1G>A	rs147936696	0.00037
NM_001609.4(ACADSB):c.375dup (p.Glu126fs)	rs756587384	0.00037
NM_001609.4(ACADSB):c.1159G>A (p.Glu387Lys)	rs188094280	0.00026
NM_001609.4(ACADSB):c.1194C>G (p.Tyr398Ter)	rs142095937	0.00022
NM_001609.4(ACADSB):c.621G>A (p.Trp207Ter)	rs374420253	0.00008
NM_001609.4(ACADSB):c.1128+1G>A	rs1564754571	0.00005
NM_001609.4(ACADSB):c.295C>T (p.Gln99Ter)	rs760791287	0.00001
NM_001609.4(ACADSB):c.923G>A (p.Cys308Tyr)	rs770456976	0.00001
NC_000010.11:g.(?_123034356)_(123041379_?)del
NM_001609.4(ACADSB):c.1128+1_1128+3del	rs1228768873
NM_001609.4(ACADSB):c.1228+1G>A	rs943046481
NM_001609.4(ACADSB):c.1228+2T>C	rs1850655600
NM_001609.4(ACADSB):c.202+1G>C
NM_001609.4(ACADSB):c.653dup (p.Val219fs)	rs755014798
NM_001609.4(ACADSB):c.746del (p.Pro249fs)	rs779015128
NM_001609.4(ACADSB):c.824del (p.Ile275fs)	rs2133484638
NM_001609.4(ACADSB):c.901-2A>G

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