ClinVar Miner

List of variants reported as uncertain significance for Nijmegen breakage syndrome-like disorder by Counsyl

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 10
Download table as spreadsheet
HGVS dbSNP
NM_005732.4(RAD50):c.1211A>G (p.Gln404Arg) rs200017020
NM_005732.4(RAD50):c.1534G>T (p.Ala512Ser) rs147366706
NM_005732.4(RAD50):c.2397G>C (p.Gln799His) rs61749630
NM_005732.4(RAD50):c.2431_2433CAA[1] (p.Gln812del) rs1554099147
NM_005732.4(RAD50):c.260G>A (p.Arg87His) rs374561375
NM_005732.4(RAD50):c.2840T>C (p.Ile947Thr) rs150401251
NM_005732.4(RAD50):c.3036+5G>A rs181016343
NM_005732.4(RAD50):c.3790C>T (p.Leu1264Phe) rs199579239
NM_005732.4(RAD50):c.379G>A (p.Val127Ile) rs28903086
NM_005732.4(RAD50):c.980G>A (p.Arg327His) rs28903091

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.