ClinVar Miner

List of variants in gene PCCA reported by Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics

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Total variants: 11
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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.1643+1_1643+2dup rs1555425626
NM_000282.4(PCCA):c.183+4_183+7del rs1555342581
NM_000282.4(PCCA):c.1899+2_1899+3insCT
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_000282.4(PCCA):c.819+9A>G rs372739944

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