ClinVar Miner

List of variants in gene NEXN reported as uncertain significance by Ambry Genetics

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 267
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HGVS dbSNP gnomAD frequency
NM_144573.4(NEXN):c.613G>A (p.Glu205Lys) rs201447781 0.00034
NM_144573.4(NEXN):c.1788T>G (p.Ser596Arg) rs199738750 0.00029
NM_144573.4(NEXN):c.242A>T (p.Asp81Val) rs367871780 0.00028
NM_144573.4(NEXN):c.1955A>G (p.Tyr652Cys) rs137853197 0.00011
NM_144573.4(NEXN):c.1435C>T (p.Leu479Phe) rs181520023 0.00009
NM_144573.4(NEXN):c.1190G>A (p.Arg397Gln) rs201806320 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.586C>T (p.Arg196Cys) rs369486891 0.00007
NM_144573.4(NEXN):c.1189C>T (p.Arg397Trp) rs754281087 0.00006
NM_144573.4(NEXN):c.1453G>A (p.Glu485Lys) rs368812830 0.00006
NM_144573.4(NEXN):c.1957A>G (p.Met653Val) rs765745920 0.00006
NM_144573.4(NEXN):c.2012T>C (p.Ile671Thr) rs747781785 0.00006
NM_144573.4(NEXN):c.250G>A (p.Glu84Lys) rs547319928 0.00006
NM_144573.4(NEXN):c.687+4A>T rs754061340 0.00006
NM_144573.4(NEXN):c.1088C>G (p.Thr363Arg) rs748351352 0.00005
NM_144573.4(NEXN):c.1010T>C (p.Ile337Thr) rs749553777 0.00004
NM_144573.4(NEXN):c.1174C>T (p.Arg392Ter) rs750076188 0.00004
NM_144573.4(NEXN):c.1471G>C (p.Glu491Gln) rs373057251 0.00004
NM_144573.4(NEXN):c.1529A>G (p.Lys510Arg) rs759726867 0.00004
NM_144573.4(NEXN):c.1595T>C (p.Ile532Thr) rs754656961 0.00004
NM_144573.4(NEXN):c.175G>A (p.Glu59Lys) rs761888910 0.00004
NM_144573.4(NEXN):c.1892T>C (p.Ile631Thr) rs775292649 0.00004
NM_144573.4(NEXN):c.818G>A (p.Arg273His) rs765385072 0.00004
NM_144573.4(NEXN):c.836G>A (p.Arg279His) rs750349053 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.1662A>G (p.Lys554=) rs752270974 0.00003
NM_144573.4(NEXN):c.1733G>C (p.Arg578Thr) rs374878979 0.00003
NM_144573.4(NEXN):c.1894G>C (p.Glu632Gln) rs370965740 0.00003
NM_144573.4(NEXN):c.1997C>A (p.Thr666Asn) rs749271412 0.00003
NM_144573.4(NEXN):c.634T>A (p.Tyr212Asn) rs769549962 0.00003
NM_144573.4(NEXN):c.817C>T (p.Arg273Cys) rs757571525 0.00003
NM_144573.4(NEXN):c.914A>G (p.Tyr305Cys) rs541547470 0.00003
NM_144573.4(NEXN):c.1046G>C (p.Arg349Thr) rs898035834 0.00002
NM_144573.4(NEXN):c.1400T>C (p.Ile467Thr) rs370195451 0.00002
NM_144573.4(NEXN):c.1615C>T (p.Arg539Cys) rs373680705 0.00002
NM_144573.4(NEXN):c.1A>C (p.Met1Leu) rs749167943 0.00002
NM_144573.4(NEXN):c.2021A>C (p.Lys674Thr) rs886046535 0.00002
NM_144573.4(NEXN):c.783C>G (p.Asn261Lys) rs368545006 0.00002
NM_144573.4(NEXN):c.871G>A (p.Glu291Lys) rs770120245 0.00002
NM_144573.4(NEXN):c.874G>A (p.Asp292Asn) rs373377525 0.00002
NM_144573.4(NEXN):c.1171C>T (p.Arg391Ter) rs200106758 0.00001
NM_144573.4(NEXN):c.1222T>C (p.Phe408Leu) rs794729083 0.00001
NM_144573.4(NEXN):c.1234A>G (p.Arg412Gly) rs768693715 0.00001
NM_144573.4(NEXN):c.1244T>C (p.Met415Thr) rs1172366391 0.00001
NM_144573.4(NEXN):c.1271C>T (p.Thr424Ile) rs200442502 0.00001
NM_144573.4(NEXN):c.1411C>T (p.Arg471Ter) rs777418673 0.00001
NM_144573.4(NEXN):c.1415C>G (p.Ala472Gly) rs539665448 0.00001
NM_144573.4(NEXN):c.1430T>C (p.Ile477Thr) rs727504658 0.00001
NM_144573.4(NEXN):c.1432G>A (p.Asp478Asn) rs1309129145 0.00001
NM_144573.4(NEXN):c.1469A>G (p.His490Arg) rs753979244 0.00001
NM_144573.4(NEXN):c.1498G>T (p.Ala500Ser) rs1193200803 0.00001
NM_144573.4(NEXN):c.1508G>A (p.Ser503Asn) rs1368415456 0.00001
NM_144573.4(NEXN):c.1528A>G (p.Lys510Glu) rs727504758 0.00001
NM_144573.4(NEXN):c.1640T>C (p.Ile547Thr) rs753636624 0.00001
NM_144573.4(NEXN):c.1642G>A (p.Asp548Asn) rs1404772841 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.1739G>A (p.Gly580Glu) rs560530481 0.00001
NM_144573.4(NEXN):c.1747T>C (p.Trp583Arg) rs1223656449 0.00001
NM_144573.4(NEXN):c.1805C>T (p.Thr602Met) rs756709134 0.00001
NM_144573.4(NEXN):c.1859A>G (p.Glu620Gly) rs748404504 0.00001
NM_144573.4(NEXN):c.185T>A (p.Ile62Asn) rs755012232 0.00001
NM_144573.4(NEXN):c.1889A>G (p.Tyr630Cys) rs769713624 0.00001
NM_144573.4(NEXN):c.1981G>A (p.Gly661Arg) rs876657929 0.00001
NM_144573.4(NEXN):c.2000G>A (p.Cys667Tyr) rs794729087 0.00001
NM_144573.4(NEXN):c.2005C>T (p.Leu669Phe) rs774194309 0.00001
NM_144573.4(NEXN):c.2019T>A (p.Ser673Arg) rs539689450 0.00001
NM_144573.4(NEXN):c.542C>T (p.Thr181Ile) rs764640427 0.00001
NM_144573.4(NEXN):c.620A>G (p.Asp207Gly) rs570946423 0.00001
NM_144573.4(NEXN):c.626G>T (p.Arg209Ile) rs1433269866 0.00001
NM_144573.4(NEXN):c.64T>A (p.Tyr22Asn) rs1553236590 0.00001
NM_144573.4(NEXN):c.688-1G>C rs761030548 0.00001
NM_144573.4(NEXN):c.767G>A (p.Arg256Gln) rs748921688 0.00001
NM_144573.4(NEXN):c.772A>G (p.Arg258Gly) rs1308264799 0.00001
NM_144573.4(NEXN):c.797C>G (p.Ala266Gly) rs1442572797 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.991G>T (p.Glu331Ter) rs533331740 0.00001
NM_144573.3(NEXN):c.2026_*1del rs794729094
NM_144573.3:c.1216_1217insALU
NM_144573.4(NEXN):c.-1C>T
NM_144573.4(NEXN):c.1002_1004del (p.Arg336del) rs794729090
NM_144573.4(NEXN):c.1004G>A (p.Arg335Lys)
NM_144573.4(NEXN):c.1014G>C (p.Glu338Asp)
NM_144573.4(NEXN):c.1015G>A (p.Glu339Lys)
NM_144573.4(NEXN):c.1021AAG[1] (p.Lys342del)
NM_144573.4(NEXN):c.1023G>C (p.Lys341Asn)
NM_144573.4(NEXN):c.1024A>G (p.Lys342Glu)
NM_144573.4(NEXN):c.1025A>C (p.Lys342Thr)
NM_144573.4(NEXN):c.1028C>T (p.Ala343Val) rs769073940
NM_144573.4(NEXN):c.1030T>G (p.Phe344Val)
NM_144573.4(NEXN):c.103T>G (p.Phe35Val)
NM_144573.4(NEXN):c.104T>C (p.Phe35Ser)
NM_144573.4(NEXN):c.1051A>G (p.Met351Val)
NM_144573.4(NEXN):c.1055T>C (p.Val352Ala) rs1040085867
NM_144573.4(NEXN):c.1064A>G (p.Asp355Gly)
NM_144573.4(NEXN):c.106G>A (p.Glu36Lys)
NM_144573.4(NEXN):c.1070C>T (p.Ser357Phe)
NM_144573.4(NEXN):c.1073C>T (p.Pro358Leu) rs755252743
NM_144573.4(NEXN):c.1078A>G (p.Met360Val)
NM_144573.4(NEXN):c.1112C>T (p.Pro371Leu) rs200067011
NM_144573.4(NEXN):c.1121T>G (p.Leu374Arg)
NM_144573.4(NEXN):c.1123G>T (p.Glu375Ter) rs1571150562
NM_144573.4(NEXN):c.1162G>A (p.Glu388Lys)
NM_144573.4(NEXN):c.1169A>C (p.Lys390Thr)
NM_144573.4(NEXN):c.116A>G (p.Gln39Arg)
NM_144573.4(NEXN):c.1171C>G (p.Arg391Gly)
NM_144573.4(NEXN):c.1175G>T (p.Arg392Leu)
NM_144573.4(NEXN):c.1186G>A (p.Glu396Lys)
NM_144573.4(NEXN):c.1195C>A (p.His399Asn) rs779417583
NM_144573.4(NEXN):c.1201C>G (p.Leu401Val)
NM_144573.4(NEXN):c.1202T>C (p.Leu401Pro)
NM_144573.4(NEXN):c.1218A>C (p.Gln406His)
NM_144573.4(NEXN):c.1228C>T (p.Gln410Ter) rs1557988499
NM_144573.4(NEXN):c.1249G>A (p.Glu417Lys)
NM_144573.4(NEXN):c.1258G>C (p.Glu420Gln)
NM_144573.4(NEXN):c.125G>A (p.Arg42Lys)
NM_144573.4(NEXN):c.1261G>C (p.Glu421Gln)
NM_144573.4(NEXN):c.1262A>T (p.Glu421Val)
NM_144573.4(NEXN):c.1301T>G (p.Leu434Arg)
NM_144573.4(NEXN):c.1316G>A (p.Arg439Lys)
NM_144573.4(NEXN):c.1385A>T (p.Glu462Val)
NM_144573.4(NEXN):c.1388T>C (p.Ile463Thr)
NM_144573.4(NEXN):c.1390C>T (p.Gln464Ter)
NM_144573.4(NEXN):c.1396A>C (p.Lys466Gln)
NM_144573.4(NEXN):c.1400del (p.Ile467fs)
NM_144573.4(NEXN):c.1401AGA[2] (p.Glu470del) rs397517846
NM_144573.4(NEXN):c.1407A>C (p.Glu469Asp)
NM_144573.4(NEXN):c.1407delinsGC (p.Glu470fs)
NM_144573.4(NEXN):c.1417A>G (p.Arg473Gly)
NM_144573.4(NEXN):c.142del (p.Arg48fs)
NM_144573.4(NEXN):c.1430T>G (p.Ile477Ser) rs727504658
NM_144573.4(NEXN):c.1451G>A (p.Arg484Gln) rs1342442796
NM_144573.4(NEXN):c.1457C>G (p.Ala486Gly) rs397517847
NM_144573.4(NEXN):c.1473G>A (p.Glu491=)
NM_144573.4(NEXN):c.1477G>A (p.Asp493Asn) rs1553241790
NM_144573.4(NEXN):c.1478ATG[1] (p.Asp494del) rs1064796362
NM_144573.4(NEXN):c.1481A>T (p.Asp494Val) rs750183004
NM_144573.4(NEXN):c.1484T>C (p.Val495Ala)
NM_144573.4(NEXN):c.148T>G (p.Ser50Ala)
NM_144573.4(NEXN):c.1502del (p.Arg501fs) rs1425668712
NM_144573.4(NEXN):c.1510G>A (p.Glu504Lys)
NM_144573.4(NEXN):c.1535A>T (p.Asn512Ile)
NM_144573.4(NEXN):c.1537A>G (p.Met513Val)
NM_144573.4(NEXN):c.1549T>G (p.Phe517Val)
NM_144573.4(NEXN):c.1565A>C (p.Lys522Thr) rs794729084
NM_144573.4(NEXN):c.1568C>T (p.Ala523Val)
NM_144573.4(NEXN):c.1573GAA[3] (p.Glu528del) rs764505909
NM_144573.4(NEXN):c.1589_1590del (p.Arg530fs) rs869025492
NM_144573.4(NEXN):c.1604A>G (p.Gln535Arg)
NM_144573.4(NEXN):c.1616G>T (p.Arg539Leu)
NM_144573.4(NEXN):c.1620G>C (p.Met540Ile)
NM_144573.4(NEXN):c.1634G>C (p.Arg545Thr)
NM_144573.4(NEXN):c.1652T>C (p.Leu551Pro)
NM_144573.4(NEXN):c.1666G>C (p.Glu556Gln)
NM_144573.4(NEXN):c.1671GGA[5] (p.Glu562dup) rs397517848
NM_144573.4(NEXN):c.1671_1672insCTT (p.Glu557_Glu558insLeu)
NM_144573.4(NEXN):c.1672G>A (p.Glu558Lys) rs927477236
NM_144573.4(NEXN):c.1678G>A (p.Glu560Lys) rs377257742
NM_144573.4(NEXN):c.167GAA[1] (p.Arg57del) rs1435048653
NM_144573.4(NEXN):c.1682A>G (p.Glu561Gly)
NM_144573.4(NEXN):c.1685A>G (p.Glu562Gly)
NM_144573.4(NEXN):c.1693A>G (p.Ile565Val)
NM_144573.4(NEXN):c.1694T>C (p.Ile565Thr)
NM_144573.4(NEXN):c.1706C>T (p.Ser569Phe)
NM_144573.4(NEXN):c.1723G>T (p.Glu575Ter)
NM_144573.4(NEXN):c.1736C>T (p.Ser579Leu)
NM_144573.4(NEXN):c.1744C>T (p.Pro582Ser)
NM_144573.4(NEXN):c.1757A>G (p.Lys586Arg)
NM_144573.4(NEXN):c.176A>G (p.Glu59Gly) rs1219781969
NM_144573.4(NEXN):c.1772C>T (p.Thr591Ile)
NM_144573.4(NEXN):c.1774T>A (p.Ser592Thr)
NM_144573.4(NEXN):c.1789G>A (p.Glu597Lys)
NM_144573.4(NEXN):c.1796T>G (p.Val599Gly)
NM_144573.4(NEXN):c.1819G>A (p.Gly607Arg)
NM_144573.4(NEXN):c.1820_1822del (p.Gly607del) rs876657928
NM_144573.4(NEXN):c.1826C>G (p.Pro609Arg)
NM_144573.4(NEXN):c.1831C>A (p.Pro611Thr) rs137853198
NM_144573.4(NEXN):c.184_185dup (p.Arg63fs)
NM_144573.4(NEXN):c.1855G>A (p.Gly619Arg)
NM_144573.4(NEXN):c.1867C>T (p.Gln623Ter)
NM_144573.4(NEXN):c.1878A>C (p.Glu626Asp)
NM_144573.4(NEXN):c.1898G>A (p.Arg633Lys)
NM_144573.4(NEXN):c.1898G>C (p.Arg633Thr)
NM_144573.4(NEXN):c.1909_1912del (p.Tyr637fs) rs775629965
NM_144573.4(NEXN):c.190G>C (p.Glu64Gln) rs2102092407
NM_144573.4(NEXN):c.1918_1922del (p.Tyr640fs) rs1222794437
NM_144573.4(NEXN):c.1922T>G (p.Leu641Ter)
NM_144573.4(NEXN):c.1924C>G (p.Pro642Ala)
NM_144573.4(NEXN):c.1946GAG[1] (p.Gly650del) rs397517853
NM_144573.4(NEXN):c.1948G>A (p.Gly650Arg)
NM_144573.4(NEXN):c.1951G>A (p.Glu651Lys) rs1211415757
NM_144573.4(NEXN):c.1952_1953del (p.Glu651fs) rs1553242326
NM_144573.4(NEXN):c.1958T>C (p.Met653Thr)
NM_144573.4(NEXN):c.1959G>A (p.Met653Ile)
NM_144573.4(NEXN):c.1973A>G (p.Asn658Ser)
NM_144573.4(NEXN):c.1976A>G (p.Asn659Ser)
NM_144573.4(NEXN):c.2001dup (p.Ile668fs)
NM_144573.4(NEXN):c.2002A>G (p.Ile668Val)
NM_144573.4(NEXN):c.2012T>A (p.Ile671Asn)
NM_144573.4(NEXN):c.2019_2022del (p.Ser673fs)
NM_144573.4(NEXN):c.201G>A (p.Trp67Ter) rs999958582
NM_144573.4(NEXN):c.214C>A (p.Gln72Lys)
NM_144573.4(NEXN):c.227A>G (p.Glu76Gly)
NM_144573.4(NEXN):c.235G>T (p.Ala79Ser)
NM_144573.4(NEXN):c.247G>A (p.Glu83Lys)
NM_144573.4(NEXN):c.254A>G (p.Asp85Gly)
NM_144573.4(NEXN):c.25_27+2del
NM_144573.4(NEXN):c.27G>A (p.Glu9=)
NM_144573.4(NEXN):c.29T>G (p.Ile10Ser)
NM_144573.4(NEXN):c.32T>C (p.Leu11Pro)
NM_144573.4(NEXN):c.450T>A (p.Ile150=) rs1064797051
NM_144573.4(NEXN):c.457A>G (p.Ile153Val)
NM_144573.4(NEXN):c.461_464del (p.Asn154fs) rs794729088
NM_144573.4(NEXN):c.467C>T (p.Thr156Met)
NM_144573.4(NEXN):c.46A>G (p.Lys16Glu)
NM_144573.4(NEXN):c.474T>C (p.Thr158=)
NM_144573.4(NEXN):c.487G>C (p.Glu163Gln)
NM_144573.4(NEXN):c.491A>G (p.Glu164Gly) rs1553238441
NM_144573.4(NEXN):c.494G>C (p.Gly165Ala)
NM_144573.4(NEXN):c.498T>A (p.Asp166Glu)
NM_144573.4(NEXN):c.506T>C (p.Leu169Pro)
NM_144573.4(NEXN):c.50C>G (p.Pro17Arg)
NM_144573.4(NEXN):c.52G>A (p.Val18Ile) rs2102091643
NM_144573.4(NEXN):c.541A>G (p.Thr181Ala)
NM_144573.4(NEXN):c.55C>T (p.Pro19Ser) rs199981645
NM_144573.4(NEXN):c.561G>T (p.Lys187Asn)
NM_144573.4(NEXN):c.583G>C (p.Glu195Gln)
NM_144573.4(NEXN):c.587G>A (p.Arg196His)
NM_144573.4(NEXN):c.595A>G (p.Lys199Glu) rs1354265495
NM_144573.4(NEXN):c.598G>C (p.Glu200Gln)
NM_144573.4(NEXN):c.601A>T (p.Arg201Trp)
NM_144573.4(NEXN):c.609G>C (p.Lys203Asn)
NM_144573.4(NEXN):c.634T>C (p.Tyr212His)
NM_144573.4(NEXN):c.635A>T (p.Tyr212Phe)
NM_144573.4(NEXN):c.644A>G (p.Gln215Arg) rs2102123963
NM_144573.4(NEXN):c.685A>C (p.Met229Leu)
NM_144573.4(NEXN):c.696A>T (p.Glu232Asp) rs1173550376
NM_144573.4(NEXN):c.700del (p.Glu234fs)
NM_144573.4(NEXN):c.70C>G (p.Pro24Ala)
NM_144573.4(NEXN):c.71C>T (p.Pro24Leu)
NM_144573.4(NEXN):c.730C>T (p.Pro244Ser)
NM_144573.4(NEXN):c.752T>G (p.Phe251Cys) rs554389574
NM_144573.4(NEXN):c.769C>A (p.Gln257Lys)
NM_144573.4(NEXN):c.784C>T (p.Arg262Ter) rs1002648603
NM_144573.4(NEXN):c.785G>A (p.Arg262Gln) rs369941497
NM_144573.4(NEXN):c.793C>A (p.Gln265Lys) rs761106568
NM_144573.4(NEXN):c.794A>C (p.Gln265Pro) rs1649888139
NM_144573.4(NEXN):c.7_9del (p.Asp3del) rs760463744
NM_144573.4(NEXN):c.80G>T (p.Gly27Val)
NM_144573.4(NEXN):c.822AGA[2] (p.Glu277del)
NM_144573.4(NEXN):c.842T>C (p.Phe281Ser)
NM_144573.4(NEXN):c.848A>T (p.Glu283Val) rs374691663
NM_144573.4(NEXN):c.859C>T (p.Gln287Ter) rs1402442744
NM_144573.4(NEXN):c.864G>T (p.Met288Ile) rs371666396
NM_144573.4(NEXN):c.865-1G>A
NM_144573.4(NEXN):c.865-4T>C rs542794485
NM_144573.4(NEXN):c.8A>T (p.Asp3Val)
NM_144573.4(NEXN):c.901A>G (p.Ile301Val)
NM_144573.4(NEXN):c.980G>T (p.Arg327Met)
NM_144573.4(NEXN):c.984del (p.Ala329fs)
NM_144573.4(NEXN):c.98A>G (p.Asp33Gly)
NM_144573.4(NEXN):c.993A>C (p.Glu331Asp)
NM_144573.4(NEXN):c.994G>A (p.Glu332Lys)

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