List of variants reported as pathogenic for Werner syndrome by OMIM

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: 10

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000553.6(WRN):c.1105C>T (p.Arg369Ter)	rs17847577	0.00033
NM_000553.6(WRN):c.3913C>T (p.Arg1305Ter)	rs121908446	0.00002
NM_000553.4(WRN):c.[375A>T;403A>G]
NM_000553.6(WRN):c.1165del (p.Arg389fs)	rs878854131
NM_000553.6(WRN):c.1730A>T (p.Lys577Met)	rs121908448
NM_000553.6(WRN):c.3139-1G>C	rs113993961
NM_000553.6(WRN):c.3493C>T (p.Gln1165Ter)	rs121908447
NM_000553.6(WRN):c.3686A>T (p.Gln1229Leu)	rs369158322
NM_000553.6(WRN):c.3690_3693del	rs606231162
NM_000553.6(WRN):c.3915dup (p.Ala1306fs)	rs587776621

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.