ClinVar Miner

List of variants studied for Deficiency of 2-methylbutyryl-CoA dehydrogenase by Revvity Omics, Revvity

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Total variants: 10
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HGVS dbSNP gnomAD frequency
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.1165A>G (p.Met389Val) rs201877440 0.00004
NM_001609.4(ACADSB):c.1271T>C (p.Ile424Thr) rs748926593 0.00001
NM_001609.4(ACADSB):c.265A>G (p.Met89Val) rs372537859 0.00001
NM_001609.4(ACADSB):c.295C>T (p.Gln99Ter) rs760791287 0.00001
NM_001609.4(ACADSB):c.1214G>A (p.Arg405Gln)
NM_001609.4(ACADSB):c.202+3A>C
NM_001609.4(ACADSB):c.232C>A (p.Pro78Thr)

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