ClinVar Miner

List of variants reported as pathogenic for classic organic aciduria by Centre for Inherited Metabolic Diseases, Karolinska University Hospital

Included ClinVar conditions (39):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
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NM_000255.4(MMUT):c.278G>A (p.Arg93His) rs121918251
NM_000255.4(MMUT):c.438T>A (p.Tyr146Ter)
NM_000282.4(PCCA):c.2040G>A (p.Ala680=) rs369982920
NM_172250.3(MMAA):c.586C>T (p.Arg196Ter) rs1029096863

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