ClinVar Miner

List of variants reported as 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: 9
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HGVS dbSNP
NM_000282.4(PCCA):c.1187T>G (p.Val396Gly)
NM_000282.4(PCCA):c.1284+2dup
NM_000282.4(PCCA):c.1353+5_1353+9del rs764045674
NM_000282.4(PCCA):c.183+4_183+7del rs1555342581
NM_000282.4(PCCA):c.2040G>A (p.Ala680=) rs369982920
NM_000282.4(PCCA):c.2119-9A>G rs1389933015
NM_000282.4(PCCA):c.468+1G>A
NM_000282.4(PCCA):c.717-2A>G
NM_000532.5(PCCB):c.655-2A>G rs796052020

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