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

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Total variants: 9

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HGVS	dbSNP	gnomAD frequency
NM_000282.4(PCCA):c.2119-9A>G	rs1389933015	0.00001
NM_000282.4(PCCA):c.1187T>G (p.Val396Gly)	rs1555411216
NM_000282.4(PCCA):c.1284+2dup	rs776978090
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.468+1G>A	rs766139678
NM_000282.4(PCCA):c.717-2A>G	rs2062611307
NM_000532.5(PCCB):c.655-2A>G	rs1553778865

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