ClinVar Miner

List of variants in gene PCCA reported as likely pathogenic by Laboratory of Metabolic Disorders,Peking University First Hospital

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 9
Download table as spreadsheet
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

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.