List of variants in gene NBN reported as likely benign by Quest Diagnostics Nichols Institute San Juan Capistrano

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: 32

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_002485.5(NBN):c.511A>G (p.Ile171Val)	rs61754966	0.00145
NM_002485.5(NBN):c.1354A>C (p.Thr452Pro)	rs141137543	0.00075
NM_002485.5(NBN):c.1777C>G (p.Pro593Ala)	rs146989944	0.00059
NM_002485.5(NBN):c.788T>C (p.Phe263Ser)	rs147626427	0.00059
NM_002485.5(NBN):c.628G>T (p.Val210Phe)	rs61754796	0.00047
NM_002485.5(NBN):c.1262T>C (p.Leu421Ser)	rs104895032	0.00027
NM_002485.5(NBN):c.804G>A (p.Thr268=)	rs141443872	0.00019
NM_002485.5(NBN):c.38-10T>A	rs556807466	0.00015
NM_002485.5(NBN):c.1020A>G (p.Pro340=)	rs864622077	0.00014
NM_002485.5(NBN):c.1124+6G>T	rs375862750	0.00013
NM_002485.5(NBN):c.1035C>T (p.Gly345=)	rs146605798	0.00011
NM_002485.5(NBN):c.1036G>A (p.Val346Met)	rs200297914	0.00011
NM_002485.5(NBN):c.37+10G>C	rs369408590	0.00011
NM_002485.5(NBN):c.426T>C (p.Asn142=)	rs143070291	0.00009
NM_002485.5(NBN):c.930T>A (p.Ile310=)	rs142813526	0.00006
NM_002485.5(NBN):c.1083A>G (p.Thr361=)	rs761042468	0.00004
NM_002485.5(NBN):c.720C>T (p.Ser240=)	rs781323381	0.00004
NM_002485.5(NBN):c.104T>C (p.Ile35Thr)	rs587780773	0.00002
NM_002485.5(NBN):c.120G>T (p.Ser40=)	rs774989816	0.00002
NM_002485.5(NBN):c.2139T>C (p.Ala713=)	rs755274971	0.00002
NM_002485.5(NBN):c.24G>A (p.Ala8=)	rs779543740	0.00002
NM_002485.5(NBN):c.1455G>A (p.Thr485=)	rs772864909	0.00001
NM_002485.5(NBN):c.1761C>T (p.Val587=)	rs769773789	0.00001
NM_002485.5(NBN):c.2196A>G (p.Gln732=)	rs587780780	0.00001
NM_002485.5(NBN):c.2247T>C (p.Tyr749=)	rs762740478	0.00001
NM_002485.5(NBN):c.366C>T (p.Val122=)	rs748684665	0.00001
NM_002485.5(NBN):c.45A>G (p.Pro15=)	rs577332041	0.00001
NM_002485.5(NBN):c.584+9T>C	rs746913991	0.00001
NM_002485.5(NBN):c.777A>G (p.Glu259=)	rs876660469	0.00001
NM_002485.5(NBN):c.678A>G (p.Thr226=)	rs878854513
NM_002485.5(NBN):c.702+7A>G	rs864622602
NM_002485.5(NBN):c.758C>T (p.Thr253Ile)	rs61754967

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.