List of variants in gene combination DNM1, LOC130002697 reported as likely benign for Developmental and epileptic encephalopathy, 31A

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

Total variants: 6

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_004408.4(DNM1):c.2077-8A>G	rs1829424670	0.00001
NM_004408.4(DNM1):c.2077-11C>G
NM_004408.4(DNM1):c.2077-13dup
NM_004408.4(DNM1):c.2077-16C>T	rs750937541
NM_004408.4(DNM1):c.2077-5C>G	rs1384977099
NM_004408.4(DNM1):c.2082G>A (p.Lys694=)	rs1284689897

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.