List of variants reported as likely pathogenic for Seizure; Focal segmental glomerulosclerosis; Neurodevelopmental delay by Yale Center for Mendelian Genomics, Yale University

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 8

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_030912.3(TRIM8):c.1163del (p.Phe388fs)	rs2135984840
NM_030912.3(TRIM8):c.1231C>T (p.Gln411Ter)	rs2135984949
NM_030912.3(TRIM8):c.1240C>T (p.Gln414Ter)	rs2135984958
NM_030912.3(TRIM8):c.1267C>T (p.Gln423Ter)	rs2064030858
NM_030912.3(TRIM8):c.1333C>T (p.Gln445Ter)	rs2135985076
NM_030912.3(TRIM8):c.1375C>T (p.Gln459Ter)	rs866294686
NM_030912.3(TRIM8):c.1380T>A (p.Tyr460Ter)	rs2135985150
NM_030912.3(TRIM8):c.1461C>G (p.Tyr487Ter)	rs1387656757

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.