ClinVar Miner

List of variants in gene NEXN studied for not provided

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Gene type:
ClinVar version:
Total variants: 179
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HGVS dbSNP gnomAD frequency
NM_144573.4(NEXN):c.219+25G>A rs1749913 0.80761
NM_144573.4(NEXN):c.864+290C>T rs1166699 0.70342
NM_144573.4(NEXN):c.1251+43C>G rs4483454 0.70295
NM_144573.4(NEXN):c.*22C>G rs3767028 0.10567
NM_144573.4(NEXN):c.1251+48T>C rs41312654 0.09791
NM_144573.4(NEXN):c.1474-198dup rs150690072 0.09787
NM_144573.4(NEXN):c.1252-301T>C rs17101082 0.08559
NM_144573.4(NEXN):c.864+294A>G rs115465149 0.04791
NM_144573.4(NEXN):c.27+220A>C rs74092331 0.04619
NM_144573.4(NEXN):c.489+207C>T rs41305872 0.04062
NM_144573.4(NEXN):c.489+106T>C rs76684082 0.02873
NM_144573.4(NEXN):c.864+231A>G rs111357417 0.02428
NM_144573.4(NEXN):c.1053+128T>C rs74092336 0.01854
NM_144573.4(NEXN):c.27+200T>C rs115693312 0.01669
NM_144573.4(NEXN):c.-53+36T>G rs147230680 0.01537
NM_144573.4(NEXN):c.1252-241T>C rs61778875 0.01354
NM_144573.4(NEXN):c.*279G>A rs11558429 0.01003
NM_144573.4(NEXN):c.1054-206G>A rs188107734 0.00610
NM_144573.4(NEXN):c.*314A>C rs78105746 0.00609
NM_144573.4(NEXN):c.995A>C (p.Glu332Ala) rs201763096 0.00262
NM_144573.4(NEXN):c.*414A>C rs1359518 0.00237
NM_144573.4(NEXN):c.1659+18C>G rs147422621 0.00228
NM_144573.4(NEXN):c.864+12T>A rs188416492 0.00141
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.1252-10T>G rs201019553 0.00088
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.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.864+43T>G rs77342708 0.00026
NM_144573.4(NEXN):c.835C>T (p.Arg279Cys) rs146245480 0.00025
NM_144573.4(NEXN):c.1029G>A (p.Ala343=) rs374260457 0.00023
NM_144573.4(NEXN):c.1252-11T>G rs781115798 0.00017
NM_144573.4(NEXN):c.865-17A>G rs201771600 0.00016
NM_144573.4(NEXN):c.893C>G (p.Thr298Arg) rs200753280 0.00016
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.688-10G>A rs370574269 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.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.1996A>G (p.Thr666Ala) rs374000722 0.00007
NM_144573.4(NEXN):c.586C>T (p.Arg196Cys) rs369486891 0.00007
NM_144573.4(NEXN):c.865-9T>C rs182083204 0.00007
NM_144573.4(NEXN):c.1453G>A (p.Glu485Lys) rs368812830 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.865-5G>A rs727505353 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.1595T>C (p.Ile532Thr) rs754656961 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.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.1733G>C (p.Arg578Thr) rs374878979 0.00003
NM_144573.4(NEXN):c.1997C>A (p.Thr666Asn) rs749271412 0.00003
NM_144573.4(NEXN):c.817C>T (p.Arg273Cys) rs757571525 0.00003
NM_144573.4(NEXN):c.1368A>C (p.Gly456=) rs397517845 0.00002
NM_144573.4(NEXN):c.1615C>T (p.Arg539Cys) rs373680705 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.1271C>T (p.Thr424Ile) rs200442502 0.00001
NM_144573.4(NEXN):c.135A>G (p.Arg45=) rs1210596763 0.00001
NM_144573.4(NEXN):c.1364T>C (p.Ile455Thr) rs1338886488 0.00001
NM_144573.4(NEXN):c.1411C>T (p.Arg471Ter) rs777418673 0.00001
NM_144573.4(NEXN):c.1469A>G (p.His490Arg) rs753979244 0.00001
NM_144573.4(NEXN):c.1473+15T>C rs757028785 0.00001
NM_144573.4(NEXN):c.1474-10T>C rs374541562 0.00001
NM_144573.4(NEXN):c.1528A>G (p.Lys510Glu) rs727504758 0.00001
NM_144573.4(NEXN):c.1609_1610insA (p.Leu537fs) rs779350415 0.00001
NM_144573.4(NEXN):c.1640T>C (p.Ile547Thr) rs753636624 0.00001
NM_144573.4(NEXN):c.1653A>G (p.Leu551=) rs794727078 0.00001
NM_144573.4(NEXN):c.1724A>G (p.Glu575Gly) rs1169540111 0.00001
NM_144573.4(NEXN):c.1739G>A (p.Gly580Glu) rs560530481 0.00001
NM_144573.4(NEXN):c.1784A>G (p.Asp595Gly) rs1131691984 0.00001
NM_144573.4(NEXN):c.1805C>T (p.Thr602Met) rs756709134 0.00001
NM_144573.4(NEXN):c.1810A>G (p.Lys604Glu) rs1441395532 0.00001
NM_144573.4(NEXN):c.185T>A (p.Ile62Asn) rs755012232 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.530A>T (p.Lys177Ile) rs1234811320 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.64T>A (p.Tyr22Asn) rs1553236590 0.00001
NM_144573.4(NEXN):c.66T>C (p.Tyr22=) rs749182975 0.00001
NM_144573.4(NEXN):c.67G>A (p.Val23Ile) rs571729575 0.00001
NM_144573.4(NEXN):c.680T>C (p.Leu227Ser) rs756273801 0.00001
NM_144573.4(NEXN):c.767G>A (p.Arg256Gln) rs748921688 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.991G>T (p.Glu331Ter) rs533331740 0.00001
NM_144573.3(NEXN):c.2026_*1del rs794729094
NM_144573.4(NEXN):c.*4CT[1] rs553696163
NM_144573.4(NEXN):c.-52-4del rs972673849
NM_144573.4(NEXN):c.1002_1004del (p.Arg336del) rs794729090
NM_144573.4(NEXN):c.1028C>T (p.Ala343Val) rs769073940
NM_144573.4(NEXN):c.1073C>T (p.Pro358Leu) rs755252743
NM_144573.4(NEXN):c.1094C>G (p.Ser365Cys) rs772491358
NM_144573.4(NEXN):c.1112C>T (p.Pro371Leu) rs200067011
NM_144573.4(NEXN):c.1143A>T (p.Leu381Phe) rs2102146601
NM_144573.4(NEXN):c.1192A>C (p.Lys398Gln) rs2102146863
NM_144573.4(NEXN):c.1232T>A (p.Leu411Gln) rs2102147101
NM_144573.4(NEXN):c.1249G>A (p.Glu417Lys)
NM_144573.4(NEXN):c.1251+1del rs2102147202
NM_144573.4(NEXN):c.1252-5del rs768326968
NM_144573.4(NEXN):c.1252-5dup rs768326968
NM_144573.4(NEXN):c.125G>A (p.Arg42Lys)
NM_144573.4(NEXN):c.137del (p.Asn46fs) rs2102092061
NM_144573.4(NEXN):c.1384_1387del (p.Glu462fs) rs2102155747
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.1426G>A (p.Ala476Thr)
NM_144573.4(NEXN):c.1445_1446del (p.Lys482fs) rs794729092
NM_144573.4(NEXN):c.1457C>G (p.Ala486Gly) rs397517847
NM_144573.4(NEXN):c.1473+115_1473+119del rs200998362
NM_144573.4(NEXN):c.1478ATG[1] (p.Asp494del) rs1064796362
NM_144573.4(NEXN):c.1498G>A (p.Ala500Thr) rs1193200803
NM_144573.4(NEXN):c.151A>C (p.Arg51=)
NM_144573.4(NEXN):c.1522A>T (p.Thr508Ser)
NM_144573.4(NEXN):c.1573GAA[3] (p.Glu528del) rs764505909
NM_144573.4(NEXN):c.1589GAA[1] (p.Arg531del) rs754350672
NM_144573.4(NEXN):c.1589_1590del (p.Arg530fs) rs869025492
NM_144573.4(NEXN):c.1593A>G (p.Arg531=) rs1359392123
NM_144573.4(NEXN):c.1660-80del rs374889046
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.1684G>C (p.Glu562Gln) rs794729085
NM_144573.4(NEXN):c.1733G>T (p.Arg578Ile) rs374878979
NM_144573.4(NEXN):c.1749G>A (p.Trp583Ter) rs2102180638
NM_144573.4(NEXN):c.1751_1757del (p.Phe584fs) rs2102180670
NM_144573.4(NEXN):c.1753AAG[1] (p.Lys586del) rs397517851
NM_144573.4(NEXN):c.176A>G (p.Glu59Gly) rs1219781969
NM_144573.4(NEXN):c.178C>T (p.Gln60Ter) rs1649088164
NM_144573.4(NEXN):c.1802T>G (p.Phe601Cys) rs2102181052
NM_144573.4(NEXN):c.1809T>C (p.Val603=)
NM_144573.4(NEXN):c.1809T>G (p.Val603=) rs1571175311
NM_144573.4(NEXN):c.1820_1822del (p.Gly607del) rs876657928
NM_144573.4(NEXN):c.1850T>G (p.Phe617Cys)
NM_144573.4(NEXN):c.1875AGA[1] (p.Glu626del) rs2102181599
NM_144573.4(NEXN):c.1878dup (p.Asp627fs) rs2102181621
NM_144573.4(NEXN):c.1909_1912del (p.Tyr637fs) rs775629965
NM_144573.4(NEXN):c.1911C>A (p.Tyr637Ter) rs772833406
NM_144573.4(NEXN):c.1918_1922del (p.Tyr640fs) rs1222794437
NM_144573.4(NEXN):c.1935C>G (p.Phe645Leu) rs794729086
NM_144573.4(NEXN):c.1938A>C (p.Pro646=) rs1571176052
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.28-85del rs112597766
NM_144573.4(NEXN):c.28-9C>T rs764131101
NM_144573.4(NEXN):c.448-47del rs200727461
NM_144573.4(NEXN):c.450T>A (p.Ile150=) rs1064797051
NM_144573.4(NEXN):c.461_464del (p.Asn154fs) rs794729088
NM_144573.4(NEXN):c.483A>C (p.Ala161=) rs1290445861
NM_144573.4(NEXN):c.492A>G (p.Glu164=) rs1571134764
NM_144573.4(NEXN):c.511dup (p.Ile171fs) rs2102123363
NM_144573.4(NEXN):c.542C>A (p.Thr181Lys) rs764640427
NM_144573.4(NEXN):c.571del (p.Asp191fs) rs794729089
NM_144573.4(NEXN):c.582A>T (p.Lys194Asn) rs2102123630
NM_144573.4(NEXN):c.609G>C (p.Lys203Asn)
NM_144573.4(NEXN):c.616G>A (p.Glu206Lys) rs370428679
NM_144573.4(NEXN):c.62C>T (p.Thr21Ile) rs794729081
NM_144573.4(NEXN):c.644A>G (p.Gln215Arg) rs2102123963
NM_144573.4(NEXN):c.646C>T (p.Arg216Ter) rs763730619
NM_144573.4(NEXN):c.785G>A (p.Arg262Gln) rs369941497
NM_144573.4(NEXN):c.848A>T (p.Glu283Val) rs374691663
NM_144573.4(NEXN):c.935T>A (p.Leu312His) rs2102133294
NM_144573.4(NEXN):c.989AAG[2] (p.Glu332del) rs727505124

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