ClinVar Miner

List of variants reported as pathogenic for classic organic aciduria by The Molecular Genetic Diagnosis Center, Children’s Hospital of Fudan University

Included ClinVar conditions (39):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
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NM_000282.4(PCCA):c.1845+1G>A rs1595860868
NM_000282.4(PCCA):c.446del (p.Asn149fs) rs1206838893
NM_032861.4(SERAC1):c.442C>T (p.Arg148Ter) rs387907236

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