List of variants in gene KRT14 reported as pathogenic for Epidermolysis bullosa simplex, Koebner type

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
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_000526.5(KRT14):c.1151T>C (p.Leu384Pro)	rs59629244
NM_000526.5(KRT14):c.1231G>T (p.Glu411Ter)	rs61664582
NM_000526.5(KRT14):c.1243T>C (p.Tyr415His)	rs58380626
NM_000526.5(KRT14):c.355A>G (p.Met119Val)	rs61263401
NM_000526.5(KRT14):c.373C>T (p.Arg125Cys)	rs60399023
NM_000526.5(KRT14):c.808G>A (p.Val270Met)	rs58560979
NM_000526.5(KRT14):c.815T>G (p.Met272Arg)	rs61371557

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.