ClinVar Miner

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

Included ClinVar conditions (1):
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Total variants: 12
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HGVS dbSNP
ACADSB, IVS3DS, A-G, +1
NM_001609.3(ACADSB):c.1159G>A (p.Glu387Lys) rs188094280
NM_001609.3(ACADSB):c.1165A>G (p.Met389Val) rs201877440
NM_001609.3(ACADSB):c.1228G>A (p.Gly410Ser) rs387906409
NM_001609.3(ACADSB):c.303+1G>A rs147936696
NM_001609.3(ACADSB):c.303+3A>G rs1345480688
NM_001609.3(ACADSB):c.443C>T (p.Thr148Ile) rs58639322
NM_001609.3(ACADSB):c.763C>T (p.Leu255Phe) rs137852649
NM_001609.4(ACADSB):c.295C>T (p.Gln99Ter) rs760791287
NM_001609.4(ACADSB):c.375dup (p.Glu126fs) rs756587384
NM_001609.4(ACADSB):c.621G>A (p.Trp207Ter) rs374420253
NM_001609.4(ACADSB):c.653dup (p.Val219fs)

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