ClinVar Miner

List of variants in gene RAD50, TH2LCRR studied for Nijmegen breakage syndrome-like disorder

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 6
Download table as spreadsheet
NM_005732.4(RAD50):c.3790C>T (p.Leu1264Phe) rs199579239
NM_005732.4(RAD50):c.3806_3807del (p.His1269fs) rs1085307088
NM_005732.4(RAD50):c.3836G>A (p.Arg1279His) rs375710541
NM_005732.4(RAD50):c.3846T>C (p.Tyr1282=) rs1804670
NM_005732.4(RAD50):c.3879C>T (p.Ile1293=) rs28903094
NM_005732.4(RAD50):c.3939A>T (p.Ter1313Tyr) rs121912629

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.