ClinVar Miner

List of variants in gene NEXN reported as pathogenic for cardiovascular disorder

Included ClinVar conditions (1435):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 28
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_144573.4(NEXN):c.835C>T (p.Arg279Cys) rs146245480 0.00025
NM_144573.4(NEXN):c.1955A>G (p.Tyr652Cys) rs137853197 0.00011
NM_144573.4(NEXN):c.1174C>T (p.Arg392Ter) rs750076188 0.00004
NM_144573.4(NEXN):c.1171C>T (p.Arg391Ter) rs200106758 0.00001
NM_144573.4(NEXN):c.1302del (p.Ile435fs) rs747902604 0.00001
NM_144573.4(NEXN):c.799G>T (p.Glu267Ter) rs771262904 0.00001
NM_144573.4(NEXN):c.991G>T (p.Glu331Ter) rs533331740 0.00001
NM_144573.4(NEXN):c.1084A>T (p.Lys362Ter)
NM_144573.4(NEXN):c.1123G>T (p.Glu375Ter) rs1571150562
NM_144573.4(NEXN):c.1170del (p.Lys390fs)
NM_144573.4(NEXN):c.1228C>T (p.Gln410Ter) rs1557988499
NM_144573.4(NEXN):c.1233_1234insGCCGGGCCCGGTGGCTCACGCCTGTAATCCCAGCACATTGGGAGGCCGAGACTGGAGGATCACGAGTTCAGGAGATCGATACCATACANNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAGAATTTGAACAACTG (p.Arg412delinsAlaGlyProGlyGlySerArgLeuTer) rs2102146999
NM_144573.4(NEXN):c.1348dup (p.Ser450fs) rs1553240600
NM_144573.4(NEXN):c.1450C>T (p.Arg484Ter) rs767792289
NM_144573.4(NEXN):c.1501A>T (p.Arg501Ter)
NM_144573.4(NEXN):c.1502del (p.Arg501fs) rs1425668712
NM_144573.4(NEXN):c.1536dup (p.Met513fs)
NM_144573.4(NEXN):c.166_169del (p.Arg56fs) rs765396527
NM_144573.4(NEXN):c.1831C>A (p.Pro611Thr) rs137853198
NM_144573.4(NEXN):c.1946GAG[1] (p.Gly650del) rs397517853
NM_144573.4(NEXN):c.201G>A (p.Trp67Ter) rs999958582
NM_144573.4(NEXN):c.461_464del (p.Asn154fs) rs794729088
NM_144573.4(NEXN):c.676del (p.Ser226fs)
NM_144573.4(NEXN):c.717dup (p.Glu240fs)
NM_144573.4(NEXN):c.784C>T (p.Arg262Ter) rs1002648603
NM_144573.4(NEXN):c.798del (p.Glu267fs)
NM_144573.4(NEXN):c.813_814insGG (p.Lys272fs)
NM_144573.4(NEXN):c.962del (p.Arg321fs) rs915318065

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.