List of variants in gene NEXN reported as uncertain significance by CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario

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: 52

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_144573.4(NEXN):c.512T>C (p.Ile171Thr)	rs372065024	0.00035
NM_144573.4(NEXN):c.613G>A (p.Glu205Lys)	rs201447781	0.00034
NM_144573.4(NEXN):c.1955A>G (p.Tyr652Cys)	rs137853197	0.00011
NM_144573.4(NEXN):c.1190G>A (p.Arg397Gln)	rs201806320	0.00007
NM_144573.4(NEXN):c.1996A>G (p.Thr666Ala)	rs374000722	0.00007
NM_144573.4(NEXN):c.586C>T (p.Arg196Cys)	rs369486891	0.00007
NM_144573.4(NEXN):c.1453G>A (p.Glu485Lys)	rs368812830	0.00006
NM_144573.4(NEXN):c.687+4A>T	rs754061340	0.00006
NM_144573.4(NEXN):c.818G>A (p.Arg273His)	rs765385072	0.00004
NM_144573.4(NEXN):c.967G>A (p.Glu323Lys)	rs1196365963	0.00004
NM_144573.4(NEXN):c.1053+1G>A	rs397517843	0.00003
NM_144573.4(NEXN):c.1894G>C (p.Glu632Gln)	rs370965740	0.00003
NM_144573.4(NEXN):c.874G>A (p.Asp292Asn)	rs373377525	0.00002
NM_144573.4(NEXN):c.1234A>G (p.Arg412Gly)	rs768693715	0.00001
NM_144573.4(NEXN):c.1271C>T (p.Thr424Ile)	rs200442502	0.00001
NM_144573.4(NEXN):c.1364T>C (p.Ile455Thr)	rs1338886488	0.00001
NM_144573.4(NEXN):c.1430T>C (p.Ile477Thr)	rs727504658	0.00001
NM_144573.4(NEXN):c.1489G>A (p.Val497Ile)	rs778330292	0.00001
NM_144573.4(NEXN):c.1642G>A (p.Asp548Asn)	rs1404772841	0.00001
NM_144573.4(NEXN):c.1653A>G (p.Leu551=)	rs794727078	0.00001
NM_144573.4(NEXN):c.1664_1666del (p.Arg555_Glu556delinsLys)	rs1221963637	0.00001
NM_144573.4(NEXN):c.1720G>A (p.Glu574Lys)	rs756408591	0.00001
NM_144573.4(NEXN):c.1981G>A (p.Gly661Arg)	rs876657929	0.00001
NM_144573.4(NEXN):c.2019T>A (p.Ser673Arg)	rs539689450	0.00001
NM_144573.4(NEXN):c.620A>G (p.Asp207Gly)	rs570946423	0.00001
NM_144573.4(NEXN):c.906T>A (p.Phe302Leu)	rs767740199	0.00001
NM_144573.4(NEXN):c.916C>T (p.Arg306Cys)	rs765051104	0.00001
NM_144573.4(NEXN):c.917G>A (p.Arg306His)	rs758055856	0.00001
NM_144573.4(NEXN):c.*4CT[1]	rs553696163
NM_144573.4(NEXN):c.1112C>T (p.Pro371Leu)	rs200067011
NM_144573.4(NEXN):c.1271C>A (p.Thr424Asn)
NM_144573.4(NEXN):c.1416AAG[1] (p.Arg475del)	rs794729091
NM_144573.4(NEXN):c.1473+5A>G	rs1650735272
NM_144573.4(NEXN):c.1550T>A (p.Phe517Tyr)	rs1557996817
NM_144573.4(NEXN):c.1573GAA[3] (p.Glu528del)	rs764505909
NM_144573.4(NEXN):c.1582_1585delinsCAAA (p.Glu528_Gln529delinsGlnLys)	rs1557996950
NM_144573.4(NEXN):c.1585C>A (p.Gln529Lys)	rs766323670
NM_144573.4(NEXN):c.166_169del (p.Arg56fs)	rs765396527
NM_144573.4(NEXN):c.1678G>C (p.Glu560Gln)
NM_144573.4(NEXN):c.1770C>T (p.Asn590=)	rs1557998187
NM_144573.4(NEXN):c.1922T>C (p.Leu641Ser)	rs760119697
NM_144573.4(NEXN):c.1946GAG[1] (p.Gly650del)	rs397517853
NM_144573.4(NEXN):c.257T>C (p.Val86Ala)	rs1557974419
NM_144573.4(NEXN):c.43T>C (p.Ser15Pro)
NM_144573.4(NEXN):c.52G>A (p.Val18Ile)	rs2102091643
NM_144573.4(NEXN):c.535T>C (p.Tyr179His)	rs1557981610
NM_144573.4(NEXN):c.60A>C (p.Lys20Asn)	rs1557973780
NM_144573.4(NEXN):c.685A>G (p.Met229Val)	rs1179163117
NM_144573.4(NEXN):c.817del (p.Arg273fs)	rs2102125160
NM_144573.4(NEXN):c.821T>C (p.Leu274Ser)	rs2102125189
NM_144573.4(NEXN):c.865-4T>C	rs542794485
NM_144573.4(NEXN):c.989AAG[2] (p.Glu332del)	rs727505124

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.