List of variants in gene combination SNHG14, UBE3A reported by Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 5

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_130839.5(UBE3A):c.119G>T (p.Gly40Val)	rs864309506
NM_130839.5(UBE3A):c.1423A>G (p.Met475Val)	rs864309507
NM_130839.5(UBE3A):c.1871_1872del (p.Cys624fs)	rs864309508
NM_130839.5(UBE3A):c.2567_2570del (p.Lys856fs)
NM_130839.5(UBE3A):c.489C>G (p.Ser163Arg)	rs1566962361

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.