List of variants reported as benign for cardiovascular organ benign neoplasm 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: 8

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_133171.5(ELMO2):c.1980T>C (p.Asp660=)	rs2257495	0.98384
NM_005401.5(PTPN14):c.-26G>A	rs10864100	0.83031
NM_005401.5(PTPN14):c.2688+26C>T	rs3013451	0.82386
NM_005401.5(PTPN14):c.978A>G (p.Arg326=)	rs7550799	0.82382
NM_005401.5(PTPN14):c.3252A>G (p.Glu1084=)	rs1135352	0.81332
NM_005401.5(PTPN14):c.758+5T>G	rs11580603	0.37880
NM_005401.5(PTPN14):c.*26G>A	rs2291831	0.15689
NM_005401.5(PTPN14):c.929+24del	rs11322819

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.