ClinVar Miner

List of variants in gene CPLANE1 reported by Gharavi Laboratory, Columbia University

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 6
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001384732.1(CPLANE1):c.2937dup (p.Ile980fs) rs1561601398
NM_001384732.1(CPLANE1):c.5363_5365del (p.Leu1788del) rs1561522930
NM_001384732.1(CPLANE1):c.6777_6794del (p.Glu2259_Ser2264del) rs1561476971
NM_001384732.1(CPLANE1):c.8326_8328delinsTTT (p.Glu2776Phe) rs1561422940
NM_001384732.1(CPLANE1):c.895G>T (p.Gly299Ter) rs1561704278
NM_001384732.1(CPLANE1):c.9701TGG[1] (p.Val3235del) rs1561271347

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.