ClinVar Miner

List of variants studied 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: 16
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NM_000282.4(PCCA):c.1187T>G (p.Val396Gly)
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.2040G>A (p.Ala680=) rs369982920
NM_000282.4(PCCA):c.2119-9A>G rs1389933015
NM_000282.4(PCCA):c.819+9A>G rs372739944
NM_000532.5(PCCB):c.1091-8_1091-3del rs1249235758
NM_000532.5(PCCB):c.543G>C (p.Leu181=) rs777868289
NM_000532.5(PCCB):c.655-2A>G rs796052020
NM_000532.5(PCCB):c.763G>A (p.Gly255Ser) rs1553778909
NM_000532.5(PCCB):c.882C>T (p.Pro294=) rs142730126

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