List of variants reported as likely pathogenic for classic organic aciduria by Laboratory of Metabolic Disorders, Peking University First Hospital

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Total variants: 17

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HGVS	dbSNP	gnomAD frequency
NM_000282.4(PCCA):c.869G>A (p.Cys290Tyr)	rs1595032920	0.00001
NM_000532.5(PCCB):c.410A>G (p.His137Arg)	rs1391142709	0.00001
NM_000532.5(PCCB):c.733G>A (p.Gly245Ser)	rs756414710	0.00001
NM_000282.4(PCCA):c.1066G>C (p.Val356Leu)	rs1595202534
NM_000282.4(PCCA):c.1075_1077del (p.Pro359del)	rs1595202607
NM_000282.4(PCCA):c.2077A>T (p.Met693Leu)	rs1594160545
NM_000282.4(PCCA):c.2159_2162dup (p.Asp722fs)	rs1594175453
NM_000282.4(PCCA):c.524G>A (p.Gly175Asp)	rs1421021643
NM_000282.4(PCCA):c.683G>T (p.Gly228Val)	rs1594961620
NM_000282.4(PCCA):c.803G>T (p.Arg268Leu)	rs368047060
NM_000282.4(PCCA):c.872C>T (p.Ser291Leu)	rs1595033018
NM_000532.5(PCCB):c.1234G>A (p.Gly412Ser)	rs1576360539
NM_000532.5(PCCB):c.1339C>T (p.Leu447Phe)	rs1576360934
NM_000532.5(PCCB):c.1373C>T (p.Ala458Val)	rs1576360976
NM_000532.5(PCCB):c.365T>C (p.Phe122Ser)	rs1576402832
NM_000532.5(PCCB):c.703A>C (p.Thr235Pro)	rs1021206121
NM_000532.5(PCCB):c.800C>A (p.Ala267Asp)	rs774249198

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