List of variants in gene combination RAD50, TH2-LCR, TH2LCRR reported as likely pathogenic for Nijmegen breakage syndrome-like disorder

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 10

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_005732.4(RAD50):c.3592C>T (p.Arg1198Ter)	rs761837416	0.00002
NM_005732.4(RAD50):c.3454C>T (p.Arg1152Ter)	rs745797941	0.00001
NM_005732.4(RAD50):c.3598C>T (p.Arg1200Ter)	rs750586158	0.00001
NM_005732.4(RAD50):c.3476del (p.Asp1159fs)	rs1554100940
NM_005732.4(RAD50):c.3489_3495del (p.Glu1164fs)	rs878854799
NM_005732.4(RAD50):c.3564dup (p.Leu1189fs)
NM_005732.4(RAD50):c.3612_3618+5del	rs995265408
NM_005732.4(RAD50):c.3752+1G>A
NM_005732.4(RAD50):c.3753-1G>A	rs1554101314
NM_005732.4(RAD50):c.3753-2A>G

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.