ClinVar Miner

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

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 40
Download table as spreadsheet
HGVS dbSNP
NM_005732.4(RAD50):c.1094G>A (p.Arg365Gln) rs146370443
NM_005732.4(RAD50):c.1192A>G (p.Lys398Glu) rs756173890
NM_005732.4(RAD50):c.119C>T (p.Ala40Val) rs1554096657
NM_005732.4(RAD50):c.1211A>G (p.Gln404Arg) rs200017020
NM_005732.4(RAD50):c.1277A>G (p.Gln426Arg) rs145428112
NM_005732.4(RAD50):c.1336A>G (p.Lys446Glu) rs149217423
NM_005732.4(RAD50):c.1402G>A (p.Glu468Lys) rs145031602
NM_005732.4(RAD50):c.1457G>A (p.Arg486His) rs776949511
NM_005732.4(RAD50):c.1534G>T (p.Ala512Ser) rs147366706
NM_005732.4(RAD50):c.1580A>G (p.Gln527Arg) rs1554098420
NM_005732.4(RAD50):c.1604G>A (p.Arg535His) rs200548021
NM_005732.4(RAD50):c.1677C>G (p.His559Gln) rs142619269
NM_005732.4(RAD50):c.1721A>G (p.Lys574Arg) rs1386858430
NM_005732.4(RAD50):c.1876G>A (p.Glu626Lys) rs763432574
NM_005732.4(RAD50):c.2047G>A (p.Val683Ile) rs367925756
NM_005732.4(RAD50):c.214G>A (p.Val72Ile) rs118029772
NM_005732.4(RAD50):c.2177G>A (p.Arg726His) rs28903092
NM_005732.4(RAD50):c.217G>A (p.Ala73Thr) rs371122101
NM_005732.4(RAD50):c.2204T>A (p.Met735Lys) rs757043253
NM_005732.4(RAD50):c.2209C>G (p.Gln737Glu) rs549559726
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.2530A>C (p.Ser844Arg) rs373817937
NM_005732.4(RAD50):c.2548C>T (p.Arg850Cys) rs181961360
NM_005732.4(RAD50):c.260G>A (p.Arg87His) rs374561375
NM_005732.4(RAD50):c.2647C>T (p.Arg883Cys) rs138749920
NM_005732.4(RAD50):c.2836G>A (p.Asp946Asn) rs766657227
NM_005732.4(RAD50):c.2840T>C (p.Ile947Thr) rs150401251
NM_005732.4(RAD50):c.3036+5G>A rs181016343
NM_005732.4(RAD50):c.3206G>T (p.Arg1069Ile) rs769003601
NM_005732.4(RAD50):c.3270A>C (p.Lys1090Asn) rs1554099872
NM_005732.4(RAD50):c.3467G>A (p.Arg1156His) rs587780156
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.3806_3807del (p.His1269fs) rs1085307088
NM_005732.4(RAD50):c.3836G>A (p.Arg1279His) rs375710541
NM_005732.4(RAD50):c.467T>G (p.Phe156Cys) rs1405344791
NM_005732.4(RAD50):c.586C>T (p.Arg196Cys) rs769853458
NM_005732.4(RAD50):c.785T>G (p.Leu262Arg) rs201728859
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.