List of variants reported for Propionic acidemia by Pars Genome Lab

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Total variants: 9

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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.637+102A>G	rs539158	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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