List of variants in gene NR2E3 reported as likely benign for perceptual disorders

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: 31

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_014249.4(NR2E3):c.*567C>A	rs71395043	0.01879
NM_014249.4(NR2E3):c.694G>A (p.Val232Ile)	rs1805023	0.00690
NM_014249.4(NR2E3):c.361G>A (p.Glu121Lys)	rs146403122	0.00472
NM_014249.4(NR2E3):c.245+8C>T	rs9920371	0.00409
NM_014249.4(NR2E3):c.333G>A (p.Ala111=)	rs900546	0.00228
NM_014249.4(NR2E3):c.*231A>G	rs185349250	0.00125
NM_014249.3(NR2E3):c.-210C>T	rs528679282	0.00047
NM_014249.4(NR2E3):c.205G>A (p.Gly69Ser)	rs200102936	0.00028
NM_014249.4(NR2E3):c.571+51C>T	rs200759758	0.00024
NM_014249.4(NR2E3):c.571+65C>T	rs538878781	0.00016
NM_014249.4(NR2E3):c.348C>T (p.Asp116=)	rs374499278	0.00009
NM_014249.4(NR2E3):c.843C>T (p.Pro281=)	rs555211505	0.00009
NM_014249.4(NR2E3):c.410C>T (p.Ser137Phe)	rs767828150	0.00006
NM_014249.4(NR2E3):c.45A>G (p.Ala15=)	rs752130237	0.00006
NM_014249.4(NR2E3):c.1082A>G (p.His361Arg)	rs537337423	0.00005
NM_014249.4(NR2E3):c.450G>A (p.Pro150=)	rs746581775	0.00003
NM_014249.4(NR2E3):c.264G>T (p.Gly88=)	rs558123422	0.00002
NM_014249.4(NR2E3):c.123G>A (p.Val41=)	rs555860015	0.00001
NM_014249.4(NR2E3):c.183C>T (p.Ile61=)	rs771404428	0.00001
NM_014249.4(NR2E3):c.222C>T (p.Ser74=)	rs767304567	0.00001
NM_014249.4(NR2E3):c.350-31C>T	rs1322109793	0.00001
NM_014249.4(NR2E3):c.351C>T (p.Ala117=)	rs572488420	0.00001
NM_014249.4(NR2E3):c.489G>A (p.Met163Ile)	rs534156309	0.00001
NM_014249.4(NR2E3):c.747+10G>A	rs780825147	0.00001
NM_014249.4(NR2E3):c.858C>T (p.Ala286=)	rs566024312	0.00001
NM_014249.4(NR2E3):c.864T>A (p.Gly288=)	rs537802684	0.00001
NM_014249.4(NR2E3):c.1020G>A (p.Glu340=)	rs2140291719
NM_014249.4(NR2E3):c.349+7C>T	rs900547
NM_014249.4(NR2E3):c.350-26C>T	rs1048078452
NM_014249.4(NR2E3):c.571+44C>G	rs372602322
NM_014249.4(NR2E3):c.882G>A (p.Thr294=)	rs1805024

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.