ClinVar Miner

List of variants in gene NEXN reported by Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 44
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_144573.4(NEXN):c.733G>A (p.Gly245Arg) rs1166698 0.15456
NM_144573.4(NEXN):c.1408G>C (p.Glu470Gln) rs35366555 0.00302
NM_144573.4(NEXN):c.995A>C (p.Glu332Ala) rs201763096 0.00291
NM_144573.4(NEXN):c.1618A>G (p.Met540Val) rs201390657 0.00113
NM_144573.4(NEXN):c.777A>G (p.Gln259=) rs375544798 0.00077
NM_144573.4(NEXN):c.732C>A (p.Pro244=) rs201171783 0.00045
NM_144573.4(NEXN):c.613G>A (p.Glu205Lys) rs201447781 0.00034
NM_144573.4(NEXN):c.242A>T (p.Asp81Val) rs367871780 0.00028
NM_144573.4(NEXN):c.78T>C (p.Leu26=) rs376535223 0.00015
NM_144573.4(NEXN):c.1806G>A (p.Thr602=) rs373102543 0.00014
NM_144573.4(NEXN):c.1955A>G (p.Tyr652Cys) rs137853197 0.00010
NM_144573.4(NEXN):c.1435C>T (p.Leu479Phe) rs181520023 0.00009
NM_144573.4(NEXN):c.856C>T (p.Arg286Trp) rs199917913 0.00009
NM_144573.4(NEXN):c.1053+1G>A rs397517843 0.00007
NM_144573.4(NEXN):c.157G>A (p.Glu53Lys) rs373778361 0.00007
NM_144573.4(NEXN):c.1996A>G (p.Thr666Ala) rs374000722 0.00007
NM_144573.4(NEXN):c.1453G>A (p.Glu485Lys) rs368812830 0.00006
NM_144573.4(NEXN):c.222T>C (p.Ile74=) rs767610015 0.00004
NM_144573.4(NEXN):c.1595T>C (p.Ile532Thr) rs754656961 0.00003
NM_144573.4(NEXN):c.1271C>T (p.Thr424Ile) rs200442502 0.00001
NM_144573.4(NEXN):c.1509C>T (p.Ser503=) rs757578397 0.00001
NM_144573.4(NEXN):c.1683A>G (p.Glu561=) rs1403473507 0.00001
NM_144573.4(NEXN):c.1695C>G (p.Ile565Met) rs1167613126 0.00001
NM_144573.4(NEXN):c.2005C>T (p.Leu669Phe) rs774194309 0.00001
NM_144573.4(NEXN):c.797C>G (p.Ala266Gly) rs1442572797 0.00001
NM_144573.4(NEXN):c.864G>T (p.Met288Ile) rs371666396 0.00001
NM_144573.4(NEXN):c.917G>A (p.Arg306His) rs758055856 0.00001
NM_144573.4(NEXN):c.1073C>T (p.Pro358Leu) rs755252743
NM_144573.4(NEXN):c.1113G>A (p.Pro371=) rs775241177
NM_144573.4(NEXN):c.1123G>T (p.Glu375Ter) rs1571150562
NM_144573.4(NEXN):c.1242A>C (p.Glu414Asp) rs1650474155
NM_144573.4(NEXN):c.1401AGA[2] (p.Glu470del) rs397517846
NM_144573.4(NEXN):c.1416AAG[1] (p.Arg475del) rs794729091
NM_144573.4(NEXN):c.1432G>C (p.Asp478His)
NM_144573.4(NEXN):c.1474-7C>G
NM_144573.4(NEXN):c.1484T>C (p.Val495Ala) rs779810551
NM_144573.4(NEXN):c.1593A>G (p.Arg531=) rs1359392123
NM_144573.4(NEXN):c.1671GGA[2] (p.Glu561_Glu562del) rs397517848
NM_144573.4(NEXN):c.1819G>C (p.Gly607Arg)
NM_144573.4(NEXN):c.2001T>C (p.Cys667=)
NM_144573.4(NEXN):c.460A>G (p.Asn154Asp) rs1649751729
NM_144573.4(NEXN):c.475_478delinsTAAA (p.Glu159_Ser160delinsTer)
NM_144573.4(NEXN):c.687+8TTTG[2] rs768486390
NM_144573.4(NEXN):c.732C>T (p.Pro244=) rs201171783

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.