ClinVar Miner

List of variants in gene CPLANE1 reported as pathogenic by Prenatal Diagnosis Center, The Sixth Medical Center of PLA General Hospital

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 4
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001384732.1(CPLANE1):c.1371+86_1371+87insTC rs1796703260
NM_001384732.1(CPLANE1):c.1383_1384dup (p.Gly462fs) rs1796678879
NM_001384732.1(CPLANE1):c.7691-107_7691-105del rs1775821411
NM_001384732.1(CPLANE1):c.7691-5_7691-4del rs1775783657

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.