ClinVar Miner

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

Included ClinVar conditions (39):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 17
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HGVS dbSNP
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.869G>A (p.Cys290Tyr) rs1595032920
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.410A>G (p.His137Arg) rs1391142709
NM_000532.5(PCCB):c.703A>C (p.Thr235Pro) rs1021206121
NM_000532.5(PCCB):c.733G>A (p.Gly245Ser) rs756414710
NM_000532.5(PCCB):c.800C>A (p.Ala267Asp) rs774249198

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