List of variants reported as pathogenic for DNA repair disease by Institute Of Human Genetics Munich, Klinikum Rechts Der Isar, Tu München

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: 9

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_005236.3(ERCC4):c.2395C>T (p.Arg799Trp)	rs121913049	0.00013
NM_015046.7(SETX):c.5825T>C (p.Ile1942Thr)	rs773379832	0.00001
NM_015046.7(SETX):c.6620A>T (p.Asp2207Val)	rs1564482221	0.00001
NM_000082.4(ERCC8):c.481+1G>C	rs1580007152
NM_000082.4(ERCC8):c.551-1G>A	rs1554073316
NM_000135.4(FANCA):c.427A>T (p.Lys143Ter)	rs539460201
NM_000380.4(XPA):c.772_785del (p.Arg258fs)	rs778543124
NM_005236.3(ERCC4):c.2026G>T (p.Glu676Ter)
NM_015046.7(SETX):c.6464T>G (p.Leu2155Trp)	rs1473613373

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.