List of variants reported as pathogenic for Epidermolysis bullosa simplex 5B, with muscular dystrophy

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_201384.3(PLEC):c.6874C>T (p.Arg2292Ter)	rs387906802	0.00002
NM_201384.3(PLEC):c.11962dup (p.Glu3988fs)	rs864309674
NM_201384.3(PLEC):c.2587CAGGAGGCC[1] (p.863QEA[1])	rs786205252
NM_201384.3(PLEC):c.4903C>T (p.Gln1635Ter)
NM_201384.3(PLEC):c.5024_5031del (p.Arg1675fs)	rs786205254
NM_201384.3(PLEC):c.5734del (p.Leu1912fs)	rs786205253
NM_201384.3(PLEC):c.5775_5782dup (p.Leu1928fs)	rs786205251
NM_201384.3(PLEC):c.6088C>T (p.Gln2030Ter)	rs387906801

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.