ClinVar Miner

List of variants studied for Propionic acidemia by Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics

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Total variants: 16
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HGVS dbSNP gnomAD frequency
NM_000532.5(PCCB):c.882C>T (p.Pro294=) rs142730126 0.00080
NM_000282.4(PCCA):c.819+9A>G rs372739944 0.00004
NM_000532.5(PCCB):c.543G>C (p.Leu181=) rs777868289 0.00002
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.1643+1_1643+2dup rs1555425626
NM_000282.4(PCCA):c.183+4_183+7del rs1555342581
NM_000282.4(PCCA):c.1899+2_1899+3insCT rs2081058900
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.1091-8_1091-3del rs1249235758
NM_000532.5(PCCB):c.655-2A>G rs1553778865
NM_000532.5(PCCB):c.763G>A (p.Gly255Ser) rs1553778909

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