ClinVar Miner

List of variants reported as likely pathogenic for Familial meningioma by Invitae

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 8
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_003079.5(SMARCE1):c.301G>A (p.Gly101Ser)
NM_003079.5(SMARCE1):c.369+1G>A rs2037146593
NM_003079.5(SMARCE1):c.369+1G>T rs2037146593
NM_003079.5(SMARCE1):c.369+2_369+5del rs2143997220
NM_003079.5(SMARCE1):c.541+1G>A rs1597746020
NM_003079.5(SMARCE1):c.542-2A>G rs2143988635
NM_003079.5(SMARCE1):c.714+1G>A rs2143988221
NM_003079.5(SMARCE1):c.817-2A>G rs2143985266

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.