List of variants reported as benign for CHARGE association by Genome-Nilou Lab

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: 12

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_012431.3(SEMA3E):c.1143+41A>G	rs2709930	0.97100
NM_017780.4(CHD7):c.2238+39G>A	rs4540437	0.83608
NM_017780.4(CHD7):c.2614-45A>G	rs6471902	0.79408
NM_017780.4(CHD7):c.4533+46A>G	rs7844902	0.77651
NM_017780.4(CHD7):c.2376+43_2376+48dup	rs5891777	0.76905
NM_017780.4(CHD7):c.1665+34G>A	rs7836586	0.76770
NM_012431.3(SEMA3E):c.550+40G>A	rs2713145	0.52350
NM_012431.3(SEMA3E):c.998+12A>T	rs2245441	0.51207
NM_012431.3(SEMA3E):c.603G>T (p.Ala201=)	rs2722985	0.49353
NM_012431.3(SEMA3E):c.671-47A>T	rs2709941	0.49328
NM_012431.3(SEMA3E):c.337-38T>C	rs7806439	0.34425
NM_012431.3(SEMA3E):c.623G>C (p.Arg208Pro)	rs61729612	0.11028

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.