List of variants reported as benign for electroclinical syndrome by Athena Diagnostics

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: 7

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_172107.4(KCNQ2):c.2339A>C (p.Asn780Thr)	rs1801475	0.59301
NM_198904.4(GABRG2):c.588C>T (p.Asn196=)	rs211037	0.31659
NM_198904.4(GABRG2):c.315C>T (p.Asn105=)	rs11135176	0.07676
NM_172107.4(KCNQ2):c.2238T>A (p.Pro746=)	rs1801471	0.07011
NM_139058.3(ARX):c.1347C>T (p.Gly449=)	rs75489697	0.01993
NM_139058.3(ARX):c.1671G>A (p.Thr557=)	rs190910161	0.00349
NM_172107.4(KCNQ2):c.1503C>G (p.Ala501=)	rs1801545

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.