List of variants reported as not provided for Developmental and epileptic encephalopathy, 1 by GenomeConnect, ClinGen

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: 4

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_001353921.2(ARHGEF9):c.1107_1108insT (p.Lys370Ter)	rs2147218877
NM_001353921.2(ARHGEF9):c.1115G>A (p.Arg372His)	rs2048831313
NM_004408.4(DNM1):c.1335+1638G>A	rs747079285
NM_031844.3(HNRNPU):c.353C>A (p.Ser118Ter)	rs1057524584

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.