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)
NM_000282.4(PCCA):c.1075_1077del (p.Pro359del)
NM_000282.4(PCCA):c.2077A>T (p.Met693Leu)
NM_000282.4(PCCA):c.2159_2162dup (p.Asp722fs)
NM_000282.4(PCCA):c.524G>A (p.Gly175Asp)
NM_000282.4(PCCA):c.683G>T (p.Gly228Val)
NM_000282.4(PCCA):c.803G>T (p.Arg268Leu)
NM_000282.4(PCCA):c.869G>A (p.Cys290Tyr)
NM_000282.4(PCCA):c.872C>T (p.Ser291Leu)
NM_000532.5(PCCB):c.1234G>A (p.Gly412Ser)
NM_000532.5(PCCB):c.1339C>T (p.Leu447Phe)
NM_000532.5(PCCB):c.1373C>T (p.Ala458Val)
NM_000532.5(PCCB):c.365T>C (p.Phe122Ser)
NM_000532.5(PCCB):c.410A>G (p.His137Arg)
NM_000532.5(PCCB):c.703A>C (p.Thr235Pro)
NM_000532.5(PCCB):c.733G>A (p.Gly245Ser)
NM_000532.5(PCCB):c.800C>A (p.Ala267Asp)

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