ClinVar Miner

List of variants in gene NEXN reported by Ambry Genetics

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 281
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HGVS dbSNP gnomAD frequency
NM_144573.4(NEXN):c.733G>A (p.Gly245Arg) rs1166698 0.15380
NM_144573.4(NEXN):c.1408G>C (p.Glu470Gln) rs35366555 0.00302
NM_144573.4(NEXN):c.995A>C (p.Glu332Ala) rs201763096 0.00262
NM_144573.4(NEXN):c.156C>T (p.Asp52=) rs371431782 0.00128
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.1785C>T (p.Asp595=) rs182998780 0.00041
NM_144573.4(NEXN):c.512T>C (p.Ile171Thr) rs372065024 0.00035
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.1029G>A (p.Ala343=) rs374260457 0.00023
NM_144573.4(NEXN):c.893C>G (p.Thr298Arg) rs200753280 0.00016
NM_144573.4(NEXN):c.1806G>A (p.Thr602=) rs373102543 0.00014
NM_144573.4(NEXN):c.1582G>C (p.Glu528Gln) rs200071700 0.00011
NM_144573.4(NEXN):c.1955A>G (p.Tyr652Cys) rs137853197 0.00011
NM_144573.4(NEXN):c.902T>A (p.Ile301Asn) rs373878384 0.00011
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.949A>C (p.Met317Leu) rs559464457 0.00009
NM_144573.4(NEXN):c.1488T>C (p.Asp496=) rs754485056 0.00008
NM_144573.4(NEXN):c.78T>C (p.Leu26=) rs376535223 0.00008
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.586C>T (p.Arg196Cys) rs369486891 0.00007
NM_144573.4(NEXN):c.1189C>T (p.Arg397Trp) rs754281087 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.222T>C (p.Ile74=) rs767610015 0.00005
NM_144573.4(NEXN):c.865-5G>A rs727505353 0.00005
NM_144573.4(NEXN):c.1010T>C (p.Ile337Thr) rs749553777 0.00004
NM_144573.4(NEXN):c.1065T>C (p.Asp355=) rs369897647 0.00004
NM_144573.4(NEXN):c.1174C>T (p.Arg392Ter) rs750076188 0.00004
NM_144573.4(NEXN):c.1450C>A (p.Arg484=) rs767792289 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.249G>A (p.Glu83=) rs372532824 0.00004
NM_144573.4(NEXN):c.739T>C (p.Leu247=) rs781118443 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.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.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.1368A>C (p.Gly456=) rs397517845 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.1651C>T (p.Leu551=) rs1346328853 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.507A>G (p.Leu169=) rs776106290 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.1266T>C (p.Asn422=) rs1200707526 0.00001
NM_144573.4(NEXN):c.1271C>T (p.Thr424Ile) rs200442502 0.00001
NM_144573.4(NEXN):c.1332A>G (p.Gln444=) rs1385609119 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.1419A>G (p.Arg473=) rs140900323 0.00001
NM_144573.4(NEXN):c.141A>G (p.Gln47=) rs1459232585 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.1489G>A (p.Val497Ile) rs778330292 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.1605A>G (p.Gln535=) rs778477679 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.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.1731C>G (p.Thr577=) rs371743669 0.00001
NM_144573.4(NEXN):c.1747T>C (p.Trp583Arg) rs1223656449 0.00001
NM_144573.4(NEXN):c.1771A>G (p.Thr591Ala) rs369019618 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.2005C>T (p.Leu669Phe) rs774194309 0.00001
NM_144573.4(NEXN):c.2019T>A (p.Ser673Arg) rs539689450 0.00001
NM_144573.4(NEXN):c.237T>C (p.Ala79=) rs727504549 0.00001
NM_144573.4(NEXN):c.456C>T (p.Asp152=) rs760312569 0.00001
NM_144573.4(NEXN):c.542C>T (p.Thr181Ile) rs764640427 0.00001
NM_144573.4(NEXN):c.579A>G (p.Glu193=) rs1476054611 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.66T>C (p.Tyr22=) rs749182975 0.00001
NM_144573.4(NEXN):c.711A>C (p.Ala237=) rs754009978 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.987A>C (p.Ala329=) rs1270187994 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.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.1070C>T (p.Ser357Phe)
NM_144573.4(NEXN):c.1073C>T (p.Pro358Leu) rs755252743
NM_144573.4(NEXN):c.108A>G (p.Glu36=)
NM_144573.4(NEXN):c.1113G>A (p.Pro371=)
NM_144573.4(NEXN):c.1121T>G (p.Leu374Arg)
NM_144573.4(NEXN):c.1162G>A (p.Glu388Lys)
NM_144573.4(NEXN):c.1169A>C (p.Lys390Thr)
NM_144573.4(NEXN):c.1175G>T (p.Arg392Leu)
NM_144573.4(NEXN):c.1186G>A (p.Glu396Lys)
NM_144573.4(NEXN):c.1201C>G (p.Leu401Val)
NM_144573.4(NEXN):c.1202T>C (p.Leu401Pro)
NM_144573.4(NEXN):c.1249G>A (p.Glu417Lys)
NM_144573.4(NEXN):c.1252-5dup rs768326968
NM_144573.4(NEXN):c.1275T>C (p.Phe425=) rs759257757
NM_144573.4(NEXN):c.1316G>A (p.Arg439Lys)
NM_144573.4(NEXN):c.1342C>T (p.Leu448=)
NM_144573.4(NEXN):c.1385A>T (p.Glu462Val)
NM_144573.4(NEXN):c.1390C>T (p.Gln464Ter)
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.1416AAG[1] (p.Arg475del) rs794729091
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.1431T>C (p.Ile477=)
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.1491T>C (p.Val497=)
NM_144573.4(NEXN):c.1502del (p.Arg501fs) rs1425668712
NM_144573.4(NEXN):c.1510G>A (p.Glu504Lys)
NM_144573.4(NEXN):c.1533G>A (p.Val511=)
NM_144573.4(NEXN):c.1537A>G (p.Met513Val)
NM_144573.4(NEXN):c.1549T>G (p.Phe517Val)
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.1611A>G (p.Leu537=)
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[2] (p.Glu561_Glu562del) rs397517848
NM_144573.4(NEXN):c.1671GGA[3] (p.Glu562del) rs397517848
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.1677G>A (p.Glu559=)
NM_144573.4(NEXN):c.167GAA[1] (p.Arg57del) rs1435048653
NM_144573.4(NEXN):c.1680G>A (p.Glu560=)
NM_144573.4(NEXN):c.1693A>G (p.Ile565Val)
NM_144573.4(NEXN):c.1694T>C (p.Ile565Thr)
NM_144573.4(NEXN):c.1704C>G (p.Gly568=) rs397517850
NM_144573.4(NEXN):c.1719T>C (p.Asp573=)
NM_144573.4(NEXN):c.1737A>G (p.Ser579=)
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.1773A>G (p.Thr591=) rs727503345
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.1839T>A (p.Ile613=)
NM_144573.4(NEXN):c.1855G>A (p.Gly619Arg)
NM_144573.4(NEXN):c.1867C>T (p.Gln623Ter)
NM_144573.4(NEXN):c.1887A>G (p.Gln629=) rs727503346
NM_144573.4(NEXN):c.1898G>C (p.Arg633Thr)
NM_144573.4(NEXN):c.1909_1912del (p.Tyr637fs) rs775629965
NM_144573.4(NEXN):c.1918_1922del (p.Tyr640fs) rs1222794437
NM_144573.4(NEXN):c.1921T>C (p.Leu641=) rs1321925816
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.1950A>G (p.Gly650=) rs2102182136
NM_144573.4(NEXN):c.1952_1953del (p.Glu651fs) rs1553242326
NM_144573.4(NEXN):c.1958T>C (p.Met653Thr)
NM_144573.4(NEXN):c.1965A>G (p.Lys655=)
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.2010C>A (p.Thr670=)
NM_144573.4(NEXN):c.2019_2022del (p.Ser673fs)
NM_144573.4(NEXN):c.214C>A (p.Gln72Lys)
NM_144573.4(NEXN):c.227A>G (p.Glu76Gly)
NM_144573.4(NEXN):c.246T>C (p.Asp82=)
NM_144573.4(NEXN):c.247G>A (p.Glu83Lys)
NM_144573.4(NEXN):c.254A>G (p.Asp85Gly)
NM_144573.4(NEXN):c.255T>G (p.Asp85Glu)
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.45T>C (p.Ser15=)
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.50C>G (p.Pro17Arg)
NM_144573.4(NEXN):c.522A>C (p.Val174=)
NM_144573.4(NEXN):c.561G>A (p.Lys187=)
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.609G>C (p.Lys203Asn)
NM_144573.4(NEXN):c.616G>A (p.Glu206Lys) rs370428679
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.651A>G (p.Pro217=)
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.711A>G (p.Ala237=)
NM_144573.4(NEXN):c.71C>T (p.Pro24Leu)
NM_144573.4(NEXN):c.730C>T (p.Pro244Ser)
NM_144573.4(NEXN):c.732C>T (p.Pro244=) rs201171783
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.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.816A>G (p.Lys272=)
NM_144573.4(NEXN):c.820T>C (p.Leu274=)
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.989AAG[2] (p.Glu332del) rs727505124
NM_144573.4(NEXN):c.98A>G (p.Asp33Gly)
NM_144573.4(NEXN):c.994G>A (p.Glu332Lys)
NM_144573.4(NEXN):c.996A>G (p.Glu332=)

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