List of variants reported as likely pathogenic for hereditary photodermatosis by Department of Pathology and Laboratory Medicine, Sinai Health System

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_000082.4(ERCC8):c.481G>A (p.Val161Ile)	rs148393161	0.00004
NM_000124.4(ERCC6):c.466C>T (p.Gln156Ter)	rs751838040	0.00002
NM_000122.2(ERCC3):c.1762dup (p.Glu588fs)	rs770925947
NM_000122.2(ERCC3):c.240dup (p.Asp81fs)
NM_000122.2(ERCC3):c.710del (p.Asp237fs)
NM_000140.5(FECH):c.1136del (p.Lys379fs)	rs764466739
NM_000374.5(UROD):c.943-14_944del
NM_000375.3(UROS):c.320-1G>C
NM_000400.4(ERCC2):c.1758+2T>G
NM_005236.3(ERCC4):c.580_584+1del	rs776329282

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.