ClinVar Miner

List of variants in gene COPA reported as likely benign by CeGaT Center for Human Genetics Tuebingen

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 11
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_004371.4(COPA):c.2904A>C (p.Thr968=) rs144262564 0.00066
NM_004371.4(COPA):c.192A>G (p.Pro64=) rs143827776 0.00046
NM_004371.4(COPA):c.1205C>T (p.Ser402Phe) rs200604416 0.00007
NM_004371.4(COPA):c.2889C>T (p.Tyr963=) rs201477148 0.00006
NM_004371.4(COPA):c.1992A>C (p.Ala664=) rs139463368 0.00004
NM_004371.4(COPA):c.2712T>C (p.Asp904=) rs375099053 0.00003
NM_004371.4(COPA):c.2775G>A (p.Gln925=) rs761577917 0.00002
NM_004371.4(COPA):c.1873A>G (p.Ile625Val) rs539596065 0.00001
NM_004371.4(COPA):c.816T>C (p.Ser272=) rs1037485892 0.00001
NM_004371.4(COPA):c.399G>T (p.Gly133=) rs142221638
NM_004371.4(COPA):c.921A>G (p.Ala307=)

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.