ClinVar Miner

List of variants in gene ACAD8 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: 6
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HGVS dbSNP
NM_014384.2(ACAD8):c.1129G>A (p.Gly377Ser) rs121908419
NM_014384.2(ACAD8):c.133C>T (p.Gln45Ter)
NM_014384.2(ACAD8):c.455T>C (p.Met152Thr) rs121908418
NM_014384.2(ACAD8):c.867C>A (p.His289Gln) rs121908421
NM_014384.2(ACAD8):c.905G>A (p.Arg302Gln) rs121908422
NM_014384.2(ACAD8):c.988C>T (p.Arg330Trp) rs121908420

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