ClinVar Miner

List of variants in gene ACADSB reported as pathogenic for classic organic aciduria

Included ClinVar conditions (39):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 8
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NM_001609.3(ACADSB):c.1159G>A (p.Glu387Lys) rs188094280
NM_001609.3(ACADSB):c.1165A>G (p.Met389Val)
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.375dup (p.Glu126fs)
NM_001609.3(ACADSB):c.443C>T (p.Thr148Ile) rs58639322
NM_001609.3(ACADSB):c.763C>T (p.Leu255Phe) rs137852649

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