ClinVar Miner

List of variants reported as benign for Propionic acidemia by Pars Genome Lab

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Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_000282.4(PCCA):c.914+19A>G rs4306370 0.92464
NM_000282.4(PCCA):c.1644-31A>G rs9518061 0.66246
NM_000282.4(PCCA):c.106-93G>A rs2184382 0.22830
NM_000282.4(PCCA):c.414+88A>G rs9585365 0.16939
NM_000282.4(PCCA):c.468+51G>A rs35055557 0.16099
NM_000282.4(PCCA):c.627A>G (p.Ala209=) rs538229 0.14245
NM_000282.4(PCCA):c.1846-104C>G rs1283292 0.12185
NM_000282.4(PCCA):c.414+104C>T rs9585366

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