ClinVar Miner

List of variants in gene BCOR reported as pathogenic by Eurofins NTD LLC (GA)

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_001123385.2(BCOR):c.3267_3270dup (p.Pro1091Ter) rs1555915852
NM_001123385.2(BCOR):c.3468del (p.Leu1157fs) rs398124313
NM_001123385.2(BCOR):c.3883_3884del (p.Leu1296fs) rs886042842
NM_001123385.2(BCOR):c.4862dup (p.Gly1622fs) rs797044647

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.