ClinVar Miner

List of variants reported as likely benign for Nijmegen breakage syndrome-like disorder

Included ClinVar conditions (5):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 41
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_005732.4(RAD50):c.280A>C (p.Ile94Leu) rs28903085 0.00300
NM_005732.4(RAD50):c.3879C>T (p.Ile1293=) rs28903094 0.00293
NM_005732.4(RAD50):c.2670G>A (p.Gln890=) rs112241748 0.00216
NM_005732.4(RAD50):c.980G>A (p.Arg327His) rs28903091 0.00207
NM_005732.4(RAD50):c.3165-8T>G rs369581851 0.00189
NM_005732.4(RAD50):c.2091C>T (p.Val697=) rs61747588 0.00156
NM_005732.4(RAD50):c.943G>T (p.Val315Leu) rs28903090 0.00141
NM_005732.4(RAD50):c.3253A>G (p.Ile1085Val) rs143189763 0.00111
NM_005732.4(RAD50):c.1534G>T (p.Ala512Ser) rs147366706 0.00079
NM_005732.4(RAD50):c.671G>A (p.Arg224His) rs28903088 0.00065
NM_005732.4(RAD50):c.2647C>T (p.Arg883Cys) rs138749920 0.00032
NM_005732.4(RAD50):c.2288G>A (p.Arg763His) rs141989813 0.00026
NM_005732.4(RAD50):c.1677C>T (p.His559=) rs142619269 0.00022
NM_005732.4(RAD50):c.204C>T (p.His68=) rs28903084 0.00010
NM_005732.4(RAD50):c.2548C>T (p.Arg850Cys) rs181961360 0.00010
NM_005732.4(RAD50):c.3790C>T (p.Leu1264Phe) rs199579239 0.00009
NM_005732.4(RAD50):c.130-10A>G rs200760698 0.00006
NM_005732.4(RAD50):c.2658A>G (p.Gln886=) rs768654795 0.00006
NM_005732.4(RAD50):c.3342A>G (p.Thr1114=) rs776513888 0.00006
NM_005732.4(RAD50):c.426T>C (p.Ser142=) rs368752746 0.00005
NM_005732.4(RAD50):c.1602A>G (p.Thr534=) rs150348197 0.00004
NM_005732.4(RAD50):c.2046C>T (p.Pro682=) rs759476003 0.00004
NM_005732.4(RAD50):c.3752+7_3752+9dup rs772887509 0.00003
NM_005732.4(RAD50):c.1992A>G (p.Ala664=) rs773126534 0.00002
NM_005732.4(RAD50):c.2113C>T (p.Leu705=) rs779776271 0.00002
NM_005732.4(RAD50):c.2298C>T (p.Asn766=) rs144186349 0.00002
NM_005732.4(RAD50):c.282A>G (p.Ile94Met) rs786202847 0.00002
NM_005732.4(RAD50):c.1052-16del rs757412385 0.00001
NM_005732.4(RAD50):c.2923-7T>C rs1329253830 0.00001
NM_005732.4(RAD50):c.3037-6C>T rs1209508205 0.00001
NM_005732.4(RAD50):c.886-11G>T rs562817115 0.00001
NM_005732.4(RAD50):c.1143T>C (p.Asp381=) rs1750643562
NM_005732.4(RAD50):c.1246-11T>C rs746985455
NM_005732.4(RAD50):c.1246-8G>T rs776650264
NM_005732.4(RAD50):c.1284G>A (p.Gln428=) rs786201152
NM_005732.4(RAD50):c.1692C>G (p.Thr564=) rs876660850
NM_005732.4(RAD50):c.3164+14del rs148895884
NM_005732.4(RAD50):c.3164+22_3164+25dup rs536987915
NM_005732.4(RAD50):c.351C>A (p.Val117=) rs878854800
NM_005732.4(RAD50):c.363A>G (p.Thr121=) rs1750390315
NM_005732.4(RAD50):c.756+7del rs377720482

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.