List of variants reported as likely benign for Nijmegen breakage syndrome by Mendelics

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

Total variants: 11

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_002485.5(NBN):c.381T>C (p.Ala127=)	rs61754795	0.00266
NM_002485.5(NBN):c.643C>T (p.Arg215Trp)	rs34767364	0.00206
NM_002485.5(NBN):c.283G>A (p.Asp95Asn)	rs61753720	0.00188
NM_002485.5(NBN):c.1777C>G (p.Pro593Ala)	rs146989944	0.00059
NM_002485.5(NBN):c.-26G>A	rs201392451	0.00045
NM_002485.5(NBN):c.1198G>A (p.Ala400Thr)	rs551602980	0.00006
NM_002485.5(NBN):c.120G>T (p.Ser40=)	rs774989816	0.00002
NM_002485.5(NBN):c.1902T>G (p.Ala634=)	rs876660052	0.00001
NM_002485.5(NBN):c.2020G>A (p.Gly674Ser)	rs1563513091
NM_002485.5(NBN):c.320+40G>T	rs749797574
NM_002485.5(NBN):c.584+7T>A	rs1057523869

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.