ClinVar Miner

List of variants studied for Deficiency of 2-methylbutyryl-CoA dehydrogenase by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

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Total variants: 10
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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.303+1G>A rs147936696 0.00036
NM_001609.4(ACADSB):c.1159G>A (p.Glu387Lys) rs188094280 0.00029
NM_001609.4(ACADSB):c.1194C>G (p.Tyr398Ter) rs142095937 0.00021
NM_001609.4(ACADSB):c.1213C>T (p.Arg405Ter) rs200154326 0.00008
NM_001609.4(ACADSB):c.621G>A (p.Trp207Ter) rs374420253 0.00007
NM_001609.4(ACADSB):c.1165A>G (p.Met389Val) rs201877440 0.00004
NM_001609.4(ACADSB):c.1228G>A (p.Gly410Ser) rs387906409 0.00001
NM_001609.4(ACADSB):c.303+3A>G rs1345480688 0.00001

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