ClinVar Miner

List of variants in gene combination RAD50, TH2LCRR reported as uncertain significance for Nijmegen breakage syndrome-like disorder

Included ClinVar conditions (5):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 17
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_005732.4(RAD50):c.3790C>T (p.Leu1264Phe) rs199579239 0.00009
NM_005732.4(RAD50):c.3836G>A (p.Arg1279His) rs375710541 0.00007
NM_005732.4(RAD50):c.3880G>A (p.Asp1294Asn) rs587782339 0.00005
NM_005732.4(RAD50):c.3778C>T (p.Arg1260Cys) rs1381323366 0.00001
NM_005732.4(RAD50):c.3779G>A (p.Arg1260His) rs367683141 0.00001
NM_005732.4(RAD50):c.3824A>G (p.Glu1275Gly) rs372924978 0.00001
NM_005732.4(RAD50):c.3835C>T (p.Arg1279Cys) rs786201810 0.00001
NM_005732.4(RAD50):c.3839C>G (p.Ser1280Cys) rs747522239 0.00001
NM_005732.4(RAD50):c.3902A>G (p.Lys1301Arg) rs201766077 0.00001
NM_005732.4(RAD50):c.3776A>G (p.Gln1259Arg) rs1561661762
NM_005732.4(RAD50):c.3805C>T (p.His1269Tyr) rs876659730
NM_005732.4(RAD50):c.3806_3807del (p.His1269fs) rs1085307088
NM_005732.4(RAD50):c.3813_3815del (p.Glu1271del) rs776601293
NM_005732.4(RAD50):c.3838T>C (p.Ser1280Pro) rs1751741883
NM_005732.4(RAD50):c.3863G>C (p.Arg1288Thr) rs202098299
NM_005732.4(RAD50):c.3886T>A (p.Cys1296Ser) rs1223441991
NM_005732.4(RAD50):c.3898G>A (p.Val1300Met) rs1554101335

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.