ClinVar Miner

List of variants reported as likely pathogenic for classic organic aciduria by Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics

Included ClinVar conditions (39):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
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NM_000282.4(PCCA):c.1643+1_1643+2dup rs1555425626
NM_000532.5(PCCB):c.1091-8_1091-3del rs1249235758
NM_000532.5(PCCB):c.763G>A (p.Gly255Ser) rs1553778909

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