ClinVar Miner

List of variants in gene ACADSB reported as pathogenic for Deficiency of 2-methylbutyryl-CoA dehydrogenase

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Total variants: 20
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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.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.275C>G (p.Ser92Ter) rs749878139 0.00003
NM_001609.4(ACADSB):c.655G>A (p.Val219Met) rs553730391 0.00003
NM_001609.4(ACADSB):c.1228G>A (p.Gly410Ser) rs387906409 0.00001
NM_001609.4(ACADSB):c.295C>T (p.Gln99Ter) rs760791287 0.00001
NM_001609.4(ACADSB):c.303+3A>G rs1345480688 0.00001
NM_001609.4(ACADSB):c.653dup (p.Val219fs) rs755014798 0.00001
NM_001609.4(ACADSB):c.763C>T (p.Leu255Phe) rs137852649 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.1172del (p.Gly391fs) rs1214542902
NM_001609.4(ACADSB):c.356del (p.Leu119fs) rs2493648846
NM_001609.4(ACADSB):c.548G>A (p.Ser183Asn)
NM_001609.4(ACADSB):c.878dup (p.Gly293_Arg294insTer) rs1443718162

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