List of variants reported as likely pathogenic for Propionic acidemia by Fulgent Genetics, Fulgent Genetics

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Total variants: 7

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HGVS	dbSNP	gnomAD frequency
NM_000282.4(PCCA):c.1284+1G>A	rs752761437	0.00007
NM_000532.5(PCCB):c.1535G>A (p.Arg512His)	rs764697873	0.00001
NM_000532.5(PCCB):c.1556T>C (p.Leu519Pro)	rs202247822	0.00001
NM_000282.4(PCCA):c.1330dup (p.Tyr444fs)	rs1595236063
NM_000282.4(PCCA):c.1716dup (p.Val573fs)	rs2152811869
NM_000282.4(PCCA):c.1899+4_1899+7del	rs794727334
NM_000282.4(PCCA):c.915-1G>C	rs367615795

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