ClinVar Miner

List of variants in gene NEFL reported as uncertain significance for Charcot-Marie-Tooth disease type 2E

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_006158.5(NEFL):c.579G>A (p.Met193Ile) rs367943135 0.00011
NM_006158.5(NEFL):c.628G>C (p.Glu210Gln) rs199422214 0.00009
NM_006158.5(NEFL):c.1276G>A (p.Gly426Ser) rs372245403 0.00008
NM_006158.5(NEFL):c.1559C>T (p.Thr520Ile) rs750697495 0.00007
NM_006158.5(NEFL):c.1340T>C (p.Val447Ala) rs1045761358 0.00005
NM_006158.5(NEFL):c.86T>C (p.Val29Ala) rs372748927 0.00005
NM_006158.5(NEFL):c.1391A>T (p.Glu464Val) rs373274253 0.00004
NM_006158.5(NEFL):c.1576G>A (p.Glu526Lys) rs546077415 0.00004
NM_006158.5(NEFL):c.215A>C (p.Asp72Ala) rs777547427 0.00004
NM_006158.5(NEFL):c.677T>C (p.Val226Ala) rs1586128391 0.00004
NM_006158.5(NEFL):c.1213G>A (p.Val405Met) rs558941336 0.00003
NM_006158.5(NEFL):c.1310G>A (p.Arg437His) rs369991241 0.00003
NM_006158.5(NEFL):c.1315T>A (p.Phe439Ile) rs199775873 0.00003
NM_006158.5(NEFL):c.1373T>C (p.Ile458Thr) rs372034119 0.00003
NM_006158.5(NEFL):c.1492G>A (p.Ala498Thr) rs151208148 0.00003
NM_006158.5(NEFL):c.1585A>G (p.Lys529Glu) rs773979111 0.00003
NM_006158.5(NEFL):c.1597G>C (p.Ala533Pro) rs371037868 0.00003
NM_006158.5(NEFL):c.182C>T (p.Ser61Phe) rs1368855205 0.00003
NM_006158.5(NEFL):c.755C>T (p.Pro252Leu) rs373569840 0.00003
NM_006158.5(NEFL):c.1408C>T (p.Pro470Ser) rs758305388 0.00002
NM_006158.5(NEFL):c.1514C>T (p.Ala505Val) rs778772140 0.00002
NM_006158.5(NEFL):c.1528G>A (p.Glu510Lys) rs749256770 0.00002
NM_006158.5(NEFL):c.1534G>T (p.Gly512Cys) rs267601870 0.00002
NM_006158.5(NEFL):c.532T>A (p.Tyr178Asn) rs550216338 0.00002
NM_006158.5(NEFL):c.716A>G (p.Gln239Arg) rs1170226456 0.00002
NM_006158.5(NEFL):c.743A>C (p.Asp248Ala) rs927119938 0.00002
NM_006158.5(NEFL):c.94G>C (p.Gly32Arg) rs1254235243 0.00002
NM_006158.5(NEFL):c.968G>A (p.Arg323Gln) rs864622499 0.00002
NM_006158.5(NEFL):c.1009G>C (p.Glu337Gln) rs1200907265 0.00001
NM_006158.5(NEFL):c.1018C>G (p.Gln340Glu) rs1803033418 0.00001
NM_006158.5(NEFL):c.1027G>A (p.Asp343Asn) rs973190345 0.00001
NM_006158.5(NEFL):c.1029C>G (p.Asp343Glu) rs781084022 0.00001
NM_006158.5(NEFL):c.1037C>A (p.Ala346Asp) rs368370291 0.00001
NM_006158.5(NEFL):c.1044+5G>C rs779620367 0.00001
NM_006158.5(NEFL):c.104C>T (p.Thr35Ile) rs1803057266 0.00001
NM_006158.5(NEFL):c.1196G>A (p.Arg399Gln) rs372997416 0.00001
NM_006158.5(NEFL):c.1273G>A (p.Gly425Ser) rs756314395 0.00001
NM_006158.5(NEFL):c.1292C>G (p.Ser431Cys) rs559215942 0.00001
NM_006158.5(NEFL):c.1302G>A (p.Met434Ile) rs922905627 0.00001
NM_006158.5(NEFL):c.1309C>T (p.Arg437Cys) rs1231546543 0.00001
NM_006158.5(NEFL):c.1327T>A (p.Tyr443Asn) rs774761874 0.00001
NM_006158.5(NEFL):c.1351C>G (p.Gln451Glu) rs773307364 0.00001
NM_006158.5(NEFL):c.1357G>A (p.Glu453Lys) rs1249514180 0.00001
NM_006158.5(NEFL):c.139G>T (p.Val47Leu) rs761972094 0.00001
NM_006158.5(NEFL):c.1429G>A (p.Glu477Lys) rs749163947 0.00001
NM_006158.5(NEFL):c.1462G>A (p.Glu488Lys) rs773570365 0.00001
NM_006158.5(NEFL):c.1505C>T (p.Ser502Phe) rs1054913532 0.00001
NM_006158.5(NEFL):c.1513G>A (p.Ala505Thr) rs1060503694 0.00001
NM_006158.5(NEFL):c.1529A>G (p.Glu510Gly) rs777727985 0.00001
NM_006158.5(NEFL):c.1532G>A (p.Gly511Glu) rs377758736 0.00001
NM_006158.5(NEFL):c.1588G>T (p.Val530Phe) rs749130357 0.00001
NM_006158.5(NEFL):c.1595G>A (p.Gly532Asp) rs769793484 0.00001
NM_006158.5(NEFL):c.1612G>A (p.Ala538Thr) rs779888473 0.00001
NM_006158.5(NEFL):c.1627G>A (p.Asp543Asn) rs1802987647 0.00001
NM_006158.5(NEFL):c.19G>A (p.Glu7Lys) rs57848467 0.00001
NM_006158.5(NEFL):c.202C>G (p.Leu68Val) rs1328701916 0.00001
NM_006158.5(NEFL):c.216C>A (p.Asp72Glu) rs1411798677 0.00001
NM_006158.5(NEFL):c.217C>G (p.Leu73Val) rs755889503 0.00001
NM_006158.5(NEFL):c.235A>G (p.Ile79Val) rs765260132 0.00001
NM_006158.5(NEFL):c.263C>A (p.Thr88Lys) rs1005508337 0.00001
NM_006158.5(NEFL):c.270G>C (p.Glu90Asp) rs767370918 0.00001
NM_006158.5(NEFL):c.287A>T (p.Asp96Val) rs868333696 0.00001
NM_006158.5(NEFL):c.298C>T (p.Arg100Cys) rs1803053166 0.00001
NM_006158.5(NEFL):c.304G>T (p.Ala102Ser) rs1323026981 0.00001
NM_006158.5(NEFL):c.418G>A (p.Glu140Lys) rs121913663 0.00001
NM_006158.5(NEFL):c.46C>T (p.Arg16Trp) rs1407149544 0.00001
NM_006158.5(NEFL):c.487G>A (p.Glu163Lys) rs876661155 0.00001
NM_006158.5(NEFL):c.490C>G (p.Arg164Gly) rs752771636 0.00001
NM_006158.5(NEFL):c.494A>C (p.Glu165Ala) rs767767512 0.00001
NM_006158.5(NEFL):c.507G>C (p.Glu169Asp) rs750417735 0.00001
NM_006158.5(NEFL):c.530G>T (p.Arg177Leu) rs1450236716 0.00001
NM_006158.5(NEFL):c.572G>A (p.Arg191Gln) rs755170407 0.00001
NM_006158.5(NEFL):c.581A>G (p.Glu194Gly) rs779955465 0.00001
NM_006158.5(NEFL):c.598G>A (p.Asp200Asn) rs1312229375 0.00001
NM_006158.5(NEFL):c.614C>T (p.Ala205Val) rs556617527 0.00001
NM_006158.5(NEFL):c.637A>G (p.Ile213Val) rs538481538 0.00001
NM_006158.5(NEFL):c.648G>C (p.Leu216Phe) rs35575466 0.00001
NM_006158.5(NEFL):c.662C>T (p.Ser221Phe) rs1344998933 0.00001
NM_006158.5(NEFL):c.688G>A (p.Glu230Lys) rs758201328 0.00001
NM_006158.5(NEFL):c.690G>C (p.Glu230Asp) rs750224223 0.00001
NM_006158.5(NEFL):c.709C>G (p.Gln237Glu) rs764134343 0.00001
NM_006158.5(NEFL):c.712A>T (p.Ile238Phe) rs534615840 0.00001
NM_006158.5(NEFL):c.721G>A (p.Ala241Thr) rs1415523458 0.00001
NM_006158.5(NEFL):c.748A>C (p.Thr250Pro) rs377036093 0.00001
NM_006158.5(NEFL):c.808G>T (p.Ala270Ser) rs749160052 0.00001
NM_006158.5(NEFL):c.856G>T (p.Val286Leu) rs902640009 0.00001
NM_006158.5(NEFL):c.868A>G (p.Ser290Gly) rs777110668 0.00001
NM_006158.5(NEFL):c.874G>T (p.Ala292Ser) rs761264386 0.00001
NM_006158.5(NEFL):c.88C>A (p.Arg30Ser) rs781658190 0.00001
NC_000008.10:g.(?_24810303)_(24814049_?)dup
NC_000008.10:g.(?_24810313)_(24811829_?)del
NC_000008.10:g.(?_24810313)_(24814039_?)dup
NC_000008.10:g.(?_24810323)_(24811839_?)del
NC_000008.10:g.(?_24810323)_(24814029_?)dup
NM_006158.5(NEFL):c.1016A>C (p.Lys339Thr) rs1586127945
NM_006158.5(NEFL):c.1019A>G (p.Gln340Arg)
NM_006158.5(NEFL):c.1032C>G (p.Ile344Met) rs1586127924
NM_006158.5(NEFL):c.1044G>A (p.Gln348=) rs1234285997
NM_006158.5(NEFL):c.109C>T (p.Arg37Cys) rs763584363
NM_006158.5(NEFL):c.1171A>G (p.Lys391Glu) rs2117251897
NM_006158.5(NEFL):c.1176_1178del (p.Leu393del)
NM_006158.5(NEFL):c.1180G>A (p.Glu394Lys) rs2117251886
NM_006158.5(NEFL):c.1181A>G (p.Glu394Gly) rs2486882077
NM_006158.5(NEFL):c.1190A>G (p.Glu397Gly) rs2117251875
NM_006158.5(NEFL):c.1196G>C (p.Arg399Pro) rs372997416
NM_006158.5(NEFL):c.1201_1318del (p.Ser401fs) rs2117251668
NM_006158.5(NEFL):c.1226C>G (p.Thr409Ser)
NM_006158.5(NEFL):c.1245C>G (p.Ser415Arg) rs1803003337
NM_006158.5(NEFL):c.1247C>T (p.Ser416Phe) rs771396574
NM_006158.5(NEFL):c.1262G>A (p.Arg421Gln) rs1463847045
NM_006158.5(NEFL):c.1265C>T (p.Ser422Phe) rs1803002899
NM_006158.5(NEFL):c.126C>G (p.Ser42Arg) rs1803056759
NM_006158.5(NEFL):c.1284G>C (p.Gln428His) rs931901985
NM_006158.5(NEFL):c.1315T>C (p.Phe439Leu) rs199775873
NM_006158.5(NEFL):c.1319C>G (p.Pro440Arg)
NM_006158.5(NEFL):c.1324TAC[1] (p.Tyr443del) rs1554497354
NM_006158.5(NEFL):c.1325A>G (p.Tyr442Cys) rs1461577846
NM_006158.5(NEFL):c.1332del (p.Ser445fs) rs2486881560
NM_006158.5(NEFL):c.1333A>G (p.Ser445Gly) rs1563251190
NM_006158.5(NEFL):c.1342C>A (p.Gln448Lys)
NM_006158.5(NEFL):c.1343A>G (p.Gln448Arg) rs2117251585
NM_006158.5(NEFL):c.1347G>C (p.Glu449Asp) rs1027193109
NM_006158.5(NEFL):c.134C>T (p.Ala45Val) rs2486888357
NM_006158.5(NEFL):c.1356C>G (p.Ile452Met) rs375151853
NM_006158.5(NEFL):c.1379C>T (p.Ala460Val) rs2117251550
NM_006158.5(NEFL):c.1412C>A (p.Pro471His) rs756696405
NM_006158.5(NEFL):c.1412C>G (p.Pro471Arg) rs756696405
NM_006158.5(NEFL):c.1426G>T (p.Ala476Ser)
NM_006158.5(NEFL):c.1438_1440delinsAGA (p.Glu480Arg) rs1586126391
NM_006158.5(NEFL):c.1441_1443del (p.Lys481del) rs756788675
NM_006158.5(NEFL):c.1444G>A (p.Asp482Asn)
NM_006158.5(NEFL):c.1457C>A (p.Ala486Asp) rs968491415
NM_006158.5(NEFL):c.1459G>T (p.Glu487Ter) rs558065942
NM_006158.5(NEFL):c.1471G>C (p.Ala491Pro) rs975745726
NM_006158.5(NEFL):c.1471_1472delinsTT (p.Ala491Leu) rs1554497315
NM_006158.5(NEFL):c.1489+6A>T rs1802996927
NM_006158.5(NEFL):c.1502A>G (p.Glu501Gly) rs1802990111
NM_006158.5(NEFL):c.1502_1503del (p.Glu501fs) rs2486880130
NM_006158.5(NEFL):c.1512A>T (p.Glu504Asp) rs2117250817
NM_006158.5(NEFL):c.1517AAG[4] (p.Glu510del) rs570816238
NM_006158.5(NEFL):c.1517AAG[6] (p.Glu510dup) rs570816238
NM_006158.5(NEFL):c.1525G>A (p.Glu509Lys) rs770809108
NM_006158.5(NEFL):c.1532_1537dup (p.Gly511_Gly512dup) rs777344234
NM_006158.5(NEFL):c.1540G>C (p.Gly514Arg) rs1586126037
NM_006158.5(NEFL):c.1544AAG[1] (p.Glu516del) rs758240691
NM_006158.5(NEFL):c.1558A>T (p.Thr520Ser) rs2117250713
NM_006158.5(NEFL):c.1559C>A (p.Thr520Asn)
NM_006158.5(NEFL):c.1597G>T (p.Ala533Ser) rs371037868
NM_006158.5(NEFL):c.1618A>G (p.Lys540Glu) rs1157404996
NM_006158.5(NEFL):c.163C>T (p.Arg55Cys) rs1803056285
NM_006158.5(NEFL):c.193A>G (p.Met65Val) rs1184499204
NM_006158.5(NEFL):c.194T>C (p.Met65Thr) rs975974165
NM_006158.5(NEFL):c.194T>G (p.Met65Arg) rs975974165
NM_006158.5(NEFL):c.200G>A (p.Ser67Asn) rs2486888169
NM_006158.5(NEFL):c.214G>T (p.Asp72Tyr) rs748849867
NM_006158.5(NEFL):c.220A>T (p.Ser74Cys) rs1803055066
NM_006158.5(NEFL):c.229G>C (p.Ala77Pro) rs1307547516
NM_006158.5(NEFL):c.22C>G (p.Pro8Ala) rs886043551
NM_006158.5(NEFL):c.22C>T (p.Pro8Ser) rs886043551
NM_006158.5(NEFL):c.236T>A (p.Ile79Asn) rs2486888067
NM_006158.5(NEFL):c.243C>A (p.Asn81Lys) rs761847300
NM_006158.5(NEFL):c.259C>T (p.Arg87Cys) rs2486888017
NM_006158.5(NEFL):c.262A>C (p.Thr88Pro) rs2117255599
NM_006158.5(NEFL):c.269A>G (p.Glu90Gly) rs1803053844
NM_006158.5(NEFL):c.26A>G (p.Tyr9Cys) rs1586129246
NM_006158.5(NEFL):c.275_286del (p.Ala92_Gln95del) rs2486887894
NM_006158.5(NEFL):c.281T>A (p.Leu94His) rs62636505
NM_006158.5(NEFL):c.285G>C (p.Gln95His)
NM_006158.5(NEFL):c.289C>A (p.Leu97Ile) rs587777888
NM_006158.5(NEFL):c.289C>T (p.Leu97Phe) rs587777888
NM_006158.5(NEFL):c.290T>C (p.Leu97Pro) rs1803053378
NM_006158.5(NEFL):c.290T>G (p.Leu97Arg) rs1803053378
NM_006158.5(NEFL):c.292A>G (p.Asn98Asp) rs2486887879
NM_006158.5(NEFL):c.294T>G (p.Asn98Lys) rs1057517776
NM_006158.5(NEFL):c.299G>C (p.Arg100Pro) rs2486887859
NM_006158.5(NEFL):c.29A>C (p.Tyr10Ser) rs1323838456
NM_006158.5(NEFL):c.316G>A (p.Glu106Lys) rs949755145
NM_006158.5(NEFL):c.331C>G (p.Leu111Val) rs1251288264
NM_006158.5(NEFL):c.334G>A (p.Glu112Lys) rs2117255452
NM_006158.5(NEFL):c.365T>G (p.Leu122Arg) rs2486887692
NM_006158.5(NEFL):c.377G>A (p.Arg126His) rs1364995930
NM_006158.5(NEFL):c.389C>G (p.Ser130Cys)
NM_006158.5(NEFL):c.398C>T (p.Ser133Phe) rs752997070
NM_006158.5(NEFL):c.415T>A (p.Tyr139Asn) rs868126991
NM_006158.5(NEFL):c.422A>C (p.Gln141Pro) rs2486887490
NM_006158.5(NEFL):c.428T>G (p.Ile143Ser)
NM_006158.5(NEFL):c.431G>A (p.Arg144His) rs867221125
NM_006158.5(NEFL):c.439C>T (p.Arg147Cys)
NM_006158.5(NEFL):c.443T>A (p.Leu148Gln) rs1338365987
NM_006158.5(NEFL):c.446C>T (p.Ala149Val) rs59101996
NM_006158.5(NEFL):c.449C>T (p.Ala150Val)
NM_006158.5(NEFL):c.44A>C (p.Lys15Thr) rs776351925
NM_006158.5(NEFL):c.44A>G (p.Lys15Arg) rs776351925
NM_006158.5(NEFL):c.475_996del (p.Ala159_Gln332del) rs2486885766
NM_006158.5(NEFL):c.484G>A (p.Gly162Ser) rs1437779457
NM_006158.5(NEFL):c.491G>A (p.Arg164His) rs1353746166
NM_006158.5(NEFL):c.493G>A (p.Glu165Lys) rs1323700017
NM_006158.5(NEFL):c.503A>G (p.Glu168Gly) rs766291112
NM_006158.5(NEFL):c.509C>A (p.Thr170Asn) rs541360328
NM_006158.5(NEFL):c.509C>T (p.Thr170Ile) rs541360328
NM_006158.5(NEFL):c.514C>T (p.Arg172Cys) rs1414210870
NM_006158.5(NEFL):c.533A>G (p.Tyr178Cys) rs2486887030
NM_006158.5(NEFL):c.542A>C (p.Glu181Ala) rs2486887009
NM_006158.5(NEFL):c.551G>A (p.Ser184Asn) rs2486886980
NM_006158.5(NEFL):c.556G>C (p.Glu186Gln) rs1803045287
NM_006158.5(NEFL):c.55G>A (p.Val19Met) rs1424618809
NM_006158.5(NEFL):c.568G>A (p.Gly190Ser)
NM_006158.5(NEFL):c.569G>T (p.Gly190Val) rs1803044984
NM_006158.5(NEFL):c.586C>A (p.Arg196Ser) rs1474708490
NM_006158.5(NEFL):c.58G>A (p.Glu20Lys) rs779821785
NM_006158.5(NEFL):c.593G>C (p.Gly198Ala) rs1554497605
NM_006158.5(NEFL):c.596C>T (p.Ala199Val) rs1214706801
NM_006158.5(NEFL):c.598G>C (p.Asp200His) rs1312229375
NM_006158.5(NEFL):c.59A>C (p.Glu20Ala)
NM_006158.5(NEFL):c.600_623dup (p.Ala207_Glu208insAspGluAlaAlaLeuAlaArgAla)
NM_006158.5(NEFL):c.603G>T (p.Glu201Asp) rs1217355732
NM_006158.5(NEFL):c.604G>A (p.Ala202Thr) rs1371125827
NM_006158.5(NEFL):c.608C>T (p.Ala203Val) rs753319598
NM_006158.5(NEFL):c.616C>A (p.Arg206Ser)
NM_006158.5(NEFL):c.616C>G (p.Arg206Gly) rs771763817
NM_006158.5(NEFL):c.619G>C (p.Ala207Pro) rs868855966
NM_006158.5(NEFL):c.62_64delinsTTT (p.Thr21_Pro22delinsIleSer) rs2117255966
NM_006158.5(NEFL):c.643A>G (p.Ser215Gly)
NM_006158.5(NEFL):c.649A>C (p.Met217Leu) rs2486886686
NM_006158.5(NEFL):c.64C>G (p.Pro22Ala) rs28928910
NM_006158.5(NEFL):c.653A>C (p.Asp218Ala)
NM_006158.5(NEFL):c.65C>A (p.Pro22His) rs267607538
NM_006158.5(NEFL):c.65C>T (p.Pro22Leu) rs267607538
NM_006158.5(NEFL):c.668T>C (p.Leu223Pro) rs1563251953
NM_006158.5(NEFL):c.67C>G (p.Arg23Gly) rs772092001
NM_006158.5(NEFL):c.67C>T (p.Arg23Trp) rs772092001
NM_006158.5(NEFL):c.682G>A (p.Glu228Lys) rs895511770
NM_006158.5(NEFL):c.682G>C (p.Glu228Gln) rs895511770
NM_006158.5(NEFL):c.68G>C (p.Arg23Pro) rs745353207
NM_006158.5(NEFL):c.74_88del (p.His25_Val29del) rs2486888455
NM_006158.5(NEFL):c.761T>C (p.Leu254Pro) rs1554497578
NM_006158.5(NEFL):c.763T>C (p.Ser255Pro) rs1803039988
NM_006158.5(NEFL):c.767C>G (p.Ala256Gly) rs775775697
NM_006158.5(NEFL):c.767C>T (p.Ala256Val) rs775775697
NM_006158.5(NEFL):c.769G>A (p.Ala257Thr) rs1803039812
NM_006158.5(NEFL):c.797A>G (p.Glu266Gly) rs1367433683
NM_006158.5(NEFL):c.797A>T (p.Glu266Val) rs1367433683
NM_006158.5(NEFL):c.79T>C (p.Ser27Pro) rs2117255911
NM_006158.5(NEFL):c.818T>C (p.Met273Thr) rs1563251872
NM_006158.5(NEFL):c.819G>T (p.Met273Ile)
NM_006158.5(NEFL):c.820C>G (p.Gln274Glu) rs2117254497
NM_006158.5(NEFL):c.836G>T (p.Trp279Leu) rs2486886171
NM_006158.5(NEFL):c.841A>G (p.Lys281Glu) rs754612937
NM_006158.5(NEFL):c.845G>A (p.Ser282Asn) rs1803037186
NM_006158.5(NEFL):c.85G>T (p.Val29Leu) rs985987606
NM_006158.5(NEFL):c.867G>C (p.Glu289Asp) rs889922247
NM_006158.5(NEFL):c.870C>G (p.Ser290Arg) rs2117254420
NM_006158.5(NEFL):c.882C>A (p.Asn294Lys) rs946938553
NM_006158.5(NEFL):c.882C>G (p.Asn294Lys) rs946938553
NM_006158.5(NEFL):c.898GCC[1] (p.Ala301del) rs765310700
NM_006158.5(NEFL):c.925C>T (p.Arg309Cys) rs1803035476
NM_006158.5(NEFL):c.932T>C (p.Leu311Pro) rs2486885968
NM_006158.5(NEFL):c.935T>C (p.Leu312Pro) rs2486885960
NM_006158.5(NEFL):c.940G>A (p.Ala314Thr) rs754413908
NM_006158.5(NEFL):c.940_945del (p.Ala314_Lys315del) rs2486885919
NM_006158.5(NEFL):c.958G>A (p.Glu320Lys) rs2486885898
NM_006158.5(NEFL):c.973A>G (p.Met325Val) rs2117254246
NM_006158.5(NEFL):c.983C>A (p.Ala328Glu) rs768190580
NM_006158.5(NEFL):c.985C>G (p.Leu329Val) rs1467459159
NM_006158.5(NEFL):c.990_1013dup (p.Glu330_Glu337dup) rs1586127947
NM_006158.5(NEFL):c.997C>G (p.Leu333Val) rs774561954
NM_006158.5(NEFL):c.998T>C (p.Leu333Pro) rs60930717

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