ClinVar Miner

List of variants reported as benign for Epilepsy, familial adult myoclonic, 4 by Genome-Nilou Lab

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 6
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_018023.5(YEATS2):c.3582+10A>G rs263042 0.46511
NM_018023.5(YEATS2):c.537+48_537+49insG rs3841649 0.44331
NM_018023.5(YEATS2):c.1588G>A (p.Val530Ile) rs262993 0.38998
NM_018023.5(YEATS2):c.1947+46_1947+48del rs3830564
NM_018023.5(YEATS2):c.2412AGG[8] (p.Gly814del) rs146705467
NM_018023.5(YEATS2):c.292-27T>C rs116502703

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.