ClinVar Miner

List of variants in gene NEFL reported by Invitae

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 387
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HGVS dbSNP gnomAD frequency
NM_006158.5(NEFL):c.1407G>A (p.Glu469=) rs543609297 0.00777
NM_006158.5(NEFL):c.667C>T (p.Leu223=) rs60156239 0.00494
NM_006158.5(NEFL):c.1275C>T (p.Gly425=) rs114329068 0.00395
NM_006158.5(NEFL):c.584C>T (p.Ala195Val) rs185200977 0.00274
NM_006158.5(NEFL):c.855C>T (p.Thr285=) rs1065083 0.00221
NM_006158.5(NEFL):c.1026C>G (p.Ala342=) rs35596950 0.00189
NM_006158.5(NEFL):c.1402G>A (p.Asp468Asn) rs57153321 0.00081
NM_006158.5(NEFL):c.639C>G (p.Ile213Met) rs62636522 0.00065
NM_006158.5(NEFL):c.1044+20A>T rs373892107 0.00062
NM_006158.5(NEFL):c.1610A>G (p.Gln537Arg) rs377121179 0.00058
NM_006158.5(NEFL):c.207G>A (p.Glu69=) rs367732440 0.00030
NM_006158.5(NEFL):c.360C>T (p.Ala120=) rs368829273 0.00019
NM_006158.5(NEFL):c.1329C>T (p.Tyr443=) rs140532785 0.00016
NM_006158.5(NEFL):c.227T>C (p.Val76Ala) rs58907919 0.00013
NM_006158.5(NEFL):c.423G>A (p.Gln141=) rs59161567 0.00012
NM_006158.5(NEFL):c.579G>A (p.Met193Ile) rs367943135 0.00011
NM_006158.5(NEFL):c.1276G>A (p.Gly426Ser) rs372245403 0.00010
NM_006158.5(NEFL):c.1560C>A (p.Thr520=) rs267607677 0.00010
NM_006158.5(NEFL):c.1212C>T (p.Ser404=) rs60547413 0.00008
NM_006158.5(NEFL):c.1458C>T (p.Ala486=) rs61726486 0.00007
NM_006158.5(NEFL):c.1559C>T (p.Thr520Ile) rs750697495 0.00007
NM_006158.5(NEFL):c.1340T>C (p.Val447Ala) rs1045761358 0.00006
NM_006158.5(NEFL):c.1590T>G (p.Val530=) rs267607679 0.00006
NM_006158.5(NEFL):c.1461G>A (p.Glu487=) rs763418924 0.00005
NM_006158.5(NEFL):c.1310G>A (p.Arg437His) rs369991241 0.00004
NM_006158.5(NEFL):c.174C>T (p.Ser58=) rs760360980 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.1315T>A (p.Phe439Ile) rs199775873 0.00003
NM_006158.5(NEFL):c.1327T>A (p.Tyr443Asn) rs774761874 0.00003
NM_006158.5(NEFL):c.1391A>T (p.Glu464Val) rs373274253 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.564C>G (p.Ala188=) rs1457926450 0.00003
NM_006158.5(NEFL):c.755C>T (p.Pro252Leu) rs373569840 0.00003
NM_006158.5(NEFL):c.1011G>A (p.Glu337=) rs761206907 0.00002
NM_006158.5(NEFL):c.1261C>A (p.Arg421=) rs191346286 0.00002
NM_006158.5(NEFL):c.1408C>T (p.Pro470Ser) rs758305388 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.264G>A (p.Thr88=) rs372795557 0.00002
NM_006158.5(NEFL):c.279G>A (p.Gln93=) rs60737254 0.00002
NM_006158.5(NEFL):c.30C>T (p.Tyr10=) rs1484620251 0.00002
NM_006158.5(NEFL):c.45G>A (p.Lys15=) rs62636518 0.00002
NM_006158.5(NEFL):c.492C>G (p.Arg164=) rs1229429321 0.00002
NM_006158.5(NEFL):c.528G>A (p.Ala176=) rs760320750 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.1006C>G (p.Leu336Val) rs551896980 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+16A>G rs559696196 0.00001
NM_006158.5(NEFL):c.1044+5G>C rs779620367 0.00001
NM_006158.5(NEFL):c.1196G>A (p.Arg399Gln) rs372997416 0.00001
NM_006158.5(NEFL):c.1213G>A (p.Val405Met) rs558941336 0.00001
NM_006158.5(NEFL):c.123C>T (p.Ser41=) rs57762083 0.00001
NM_006158.5(NEFL):c.1273G>A (p.Gly425Ser) rs756314395 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.1320G>A (p.Pro440=) rs541109299 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.1380T>C (p.Ala460=) rs774138147 0.00001
NM_006158.5(NEFL):c.1395A>G (p.Glu465=) rs755320728 0.00001
NM_006158.5(NEFL):c.1428C>T (p.Ala476=) rs1455394179 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.1492G>A (p.Ala498Thr) rs151208148 0.00001
NM_006158.5(NEFL):c.1505C>T (p.Ser502Phe) rs1054913532 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.1578G>A (p.Glu526=) rs759816126 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.216C>A (p.Asp72Glu) rs1411798677 0.00001
NM_006158.5(NEFL):c.217C>G (p.Leu73Val) rs755889503 0.00001
NM_006158.5(NEFL):c.219G>A (p.Leu73=) rs1321286875 0.00001
NM_006158.5(NEFL):c.231C>G (p.Ala77=) rs897017935 0.00001
NM_006158.5(NEFL):c.235A>G (p.Ile79Val) rs765260132 0.00001
NM_006158.5(NEFL):c.270G>C (p.Glu90Asp) rs767370918 0.00001
NM_006158.5(NEFL):c.36C>T (p.Thr12=) rs773399177 0.00001
NM_006158.5(NEFL):c.372G>A (p.Val124=) rs1433367736 0.00001
NM_006158.5(NEFL):c.390C>G (p.Ser130=) rs1430281104 0.00001
NM_006158.5(NEFL):c.418G>A (p.Glu140Lys) rs121913663 0.00001
NM_006158.5(NEFL):c.436C>T (p.Leu146=) rs772789963 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.530G>T (p.Arg177Leu) rs1450236716 0.00001
NM_006158.5(NEFL):c.597C>T (p.Ala199=) rs1423856572 0.00001
NM_006158.5(NEFL):c.612C>T (p.Leu204=) rs370031604 0.00001
NM_006158.5(NEFL):c.621C>T (p.Ala207=) rs763294014 0.00001
NM_006158.5(NEFL):c.637A>G (p.Ile213Val) rs538481538 0.00001
NM_006158.5(NEFL):c.63G>T (p.Thr21=) rs1246523840 0.00001
NM_006158.5(NEFL):c.648G>C (p.Leu216Phe) rs35575466 0.00001
NM_006158.5(NEFL):c.690G>C (p.Glu230Asp) rs750224223 0.00001
NM_006158.5(NEFL):c.720C>T (p.Tyr240=) rs58975336 0.00001
NM_006158.5(NEFL):c.721G>A (p.Ala241Thr) rs1415523458 0.00001
NM_006158.5(NEFL):c.777G>A (p.Lys259=) rs369644605 0.00001
NM_006158.5(NEFL):c.780C>T (p.Asp260=) rs878854817 0.00001
NM_006158.5(NEFL):c.808G>T (p.Ala270Ser) rs749160052 0.00001
NM_006158.5(NEFL):c.816C>T (p.Asn272=) rs373809857 0.00001
NM_006158.5(NEFL):c.856G>T (p.Val286Leu) rs902640009 0.00001
NM_006158.5(NEFL):c.873C>T (p.Ala291=) rs1466451392 0.00001
NM_006158.5(NEFL):c.874G>T (p.Ala292Ser) rs761264386 0.00001
NM_006158.5(NEFL):c.891C>T (p.Ala297=) rs376560820 0.00001
NM_006158.5(NEFL):c.936C>T (p.Leu312=) rs371515323 0.00001
NM_006158.5(NEFL):c.945G>A (p.Lys315=) rs779559532 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
NM_006158.4(NEFL):c.1414=
NM_006158.4(NEFL):c.78_81delinsTTCT (p.Ile26_Ser27=) rs1060504999
NM_006158.5(NEFL):c.1009G>C (p.Glu337Gln)
NM_006158.5(NEFL):c.1016A>C (p.Lys339Thr) rs1586127945
NM_006158.5(NEFL):c.1018C>G (p.Gln340Glu)
NM_006158.5(NEFL):c.1026C>A (p.Ala342=)
NM_006158.5(NEFL):c.1027G>A (p.Asp343Asn) rs973190345
NM_006158.5(NEFL):c.1032C>G (p.Ile344Met) rs1586127924
NM_006158.5(NEFL):c.1038T>C (p.Ala346=) rs2117254129
NM_006158.5(NEFL):c.1044+15G>C
NM_006158.5(NEFL):c.1044+19C>T rs2117254076
NM_006158.5(NEFL):c.1044+2T>G
NM_006158.5(NEFL):c.1044+9C>A rs757926597
NM_006158.5(NEFL):c.1044G>A (p.Gln348=) rs1234285997
NM_006158.5(NEFL):c.104C>T (p.Thr35Ile)
NM_006158.5(NEFL):c.105C>T (p.Thr35=)
NM_006158.5(NEFL):c.108A>G (p.Ala36=)
NM_006158.5(NEFL):c.109C>T (p.Arg37Cys)
NM_006158.5(NEFL):c.114A>T (p.Ser38=)
NM_006158.5(NEFL):c.1169+20G>T
NM_006158.5(NEFL):c.1171A>G (p.Lys391Glu) rs2117251897
NM_006158.5(NEFL):c.1175T>A (p.Leu392His) rs1554497393
NM_006158.5(NEFL):c.1179G>C (p.Leu393Phe) rs879253927
NM_006158.5(NEFL):c.1180G>A (p.Glu394Lys) rs2117251886
NM_006158.5(NEFL):c.1185C>G (p.Gly395=) rs751512030
NM_006158.5(NEFL):c.1185C>T (p.Gly395=) rs751512030
NM_006158.5(NEFL):c.1186G>A (p.Glu396Lys) rs62636503
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.1236C>T (p.Tyr412=)
NM_006158.5(NEFL):c.1240dup (p.Gln414fs)
NM_006158.5(NEFL):c.1247C>T (p.Ser416Phe)
NM_006158.5(NEFL):c.1248C>T (p.Ser416=)
NM_006158.5(NEFL):c.1251G>A (p.Gln417=) rs2117251802
NM_006158.5(NEFL):c.1261C>T (p.Arg421Ter) rs191346286
NM_006158.5(NEFL):c.1262G>A (p.Arg421Gln)
NM_006158.5(NEFL):c.1265C>T (p.Ser422Phe) rs1803002899
NM_006158.5(NEFL):c.126C>G (p.Ser42Arg)
NM_006158.5(NEFL):c.1272del (p.Ala423_Tyr424insTer)
NM_006158.5(NEFL):c.1284G>A (p.Gln428=) rs931901985
NM_006158.5(NEFL):c.1287C>T (p.Thr429=) rs1554497362
NM_006158.5(NEFL):c.1292C>G (p.Ser431Cys) rs559215942
NM_006158.5(NEFL):c.1315T>C (p.Phe439Leu) rs199775873
NM_006158.5(NEFL):c.1319C>T (p.Pro440Leu) rs587777882
NM_006158.5(NEFL):c.1320G>T (p.Pro440=) rs541109299
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.1326C>T (p.Tyr442=)
NM_006158.5(NEFL):c.1332del (p.Ser445fs)
NM_006158.5(NEFL):c.1333A>G (p.Ser445Gly) rs1563251190
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)
NM_006158.5(NEFL):c.1356C>G (p.Ile452Met) rs375151853
NM_006158.5(NEFL):c.1365G>A (p.Glu455=)
NM_006158.5(NEFL):c.1373T>C (p.Ile458Thr) rs372034119
NM_006158.5(NEFL):c.1379C>T (p.Ala460Val) rs2117251550
NM_006158.5(NEFL):c.1386G>A (p.Lys462=)
NM_006158.5(NEFL):c.1412C>A (p.Pro471His) rs756696405
NM_006158.5(NEFL):c.1412C>G (p.Pro471Arg)
NM_006158.5(NEFL):c.1428C>G (p.Ala476=) rs1455394179
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.1457C>A (p.Ala486Asp) rs968491415
NM_006158.5(NEFL):c.1458C>G (p.Ala486=) rs61726486
NM_006158.5(NEFL):c.1459G>T (p.Glu487Ter) rs558065942
NM_006158.5(NEFL):c.1471G>C (p.Ala491Pro)
NM_006158.5(NEFL):c.1471_1472delinsTT (p.Ala491Leu) rs1554497315
NM_006158.5(NEFL):c.147C>G (p.Ser49=) rs2117255801
NM_006158.5(NEFL):c.1482G>A (p.Glu494=) rs1554497313
NM_006158.5(NEFL):c.1489+16A>T
NM_006158.5(NEFL):c.1489+17C>G
NM_006158.5(NEFL):c.1489+6A>T rs1802996927
NM_006158.5(NEFL):c.1502_1503del (p.Glu501fs)
NM_006158.5(NEFL):c.1512A>T (p.Glu504Asp) rs2117250817
NM_006158.5(NEFL):c.1513G>A (p.Ala505Thr) rs1060503694
NM_006158.5(NEFL):c.1514C>T (p.Ala505Val)
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)
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.1573GAG[2] (p.Glu527del) rs3832558
NM_006158.5(NEFL):c.1576G>A (p.Glu526Lys)
NM_006158.5(NEFL):c.1597G>T (p.Ala533Ser)
NM_006158.5(NEFL):c.1608A>G (p.Glu536=) rs2117250636
NM_006158.5(NEFL):c.1611A>G (p.Gln537=) rs1802987929
NM_006158.5(NEFL):c.1618A>G (p.Lys540Glu) rs1157404996
NM_006158.5(NEFL):c.1627G>A (p.Asp543Asn) rs1802987647
NM_006158.5(NEFL):c.193A>G (p.Met65Val)
NM_006158.5(NEFL):c.194T>C (p.Met65Thr)
NM_006158.5(NEFL):c.194T>G (p.Met65Arg)
NM_006158.5(NEFL):c.200G>A (p.Ser67Asn)
NM_006158.5(NEFL):c.210C>T (p.Asn70=)
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)
NM_006158.5(NEFL):c.22C>A (p.Pro8Thr) rs886043551
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)
NM_006158.5(NEFL):c.23C>G (p.Pro8Arg) rs61491953
NM_006158.5(NEFL):c.23C>T (p.Pro8Leu) rs61491953
NM_006158.5(NEFL):c.243C>A (p.Asn81Lys) rs761847300
NM_006158.5(NEFL):c.262A>C (p.Thr88Pro) rs2117255599
NM_006158.5(NEFL):c.263C>A (p.Thr88Lys)
NM_006158.5(NEFL):c.268G>A (p.Glu90Lys) rs58332872
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)
NM_006158.5(NEFL):c.281T>A (p.Leu94His)
NM_006158.5(NEFL):c.287A>T (p.Asp96Val)
NM_006158.5(NEFL):c.288C>T (p.Asp96=)
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)
NM_006158.5(NEFL):c.293A>G (p.Asn98Ser) rs58982919
NM_006158.5(NEFL):c.294T>G (p.Asn98Lys) rs1057517776
NM_006158.5(NEFL):c.299G>C (p.Arg100Pro)
NM_006158.5(NEFL):c.29A>C (p.Tyr10Ser)
NM_006158.5(NEFL):c.304G>T (p.Ala102Ser) rs1323026981
NM_006158.5(NEFL):c.316G>A (p.Glu106Lys)
NM_006158.5(NEFL):c.321C>G (p.Arg107=) rs1198042093
NM_006158.5(NEFL):c.32C>A (p.Ser11Ter) rs766951637
NM_006158.5(NEFL):c.331C>G (p.Leu111Val)
NM_006158.5(NEFL):c.334G>A (p.Glu112Lys) rs2117255452
NM_006158.5(NEFL):c.338_339delinsCC (p.Gln113Pro) rs1554497641
NM_006158.5(NEFL):c.352C>T (p.Leu118=) rs1254381816
NM_006158.5(NEFL):c.365T>G (p.Leu122Arg)
NM_006158.5(NEFL):c.377G>A (p.Arg126His) rs1364995930
NM_006158.5(NEFL):c.390C>T (p.Ser130=) rs1430281104
NM_006158.5(NEFL):c.398C>T (p.Ser133Phe)
NM_006158.5(NEFL):c.415T>A (p.Tyr139Asn) rs868126991
NM_006158.5(NEFL):c.417C>G (p.Tyr139Ter) rs545637885
NM_006158.5(NEFL):c.420G>A (p.Glu140=) rs1586128713
NM_006158.5(NEFL):c.422A>C (p.Gln141Pro)
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.44A>C (p.Lys15Thr) rs776351925
NM_006158.5(NEFL):c.44A>G (p.Lys15Arg) rs776351925
NM_006158.5(NEFL):c.46C>T (p.Arg16Trp)
NM_006158.5(NEFL):c.475_996del (p.Ala159_Gln332del)
NM_006158.5(NEFL):c.484G>A (p.Gly162Ser) rs1437779457
NM_006158.5(NEFL):c.486C>T (p.Gly162=) rs1803048212
NM_006158.5(NEFL):c.489G>A (p.Glu163=)
NM_006158.5(NEFL):c.48G>A (p.Arg16=) rs2117256009
NM_006158.5(NEFL):c.48G>C (p.Arg16=)
NM_006158.5(NEFL):c.491G>A (p.Arg164His)
NM_006158.5(NEFL):c.493G>A (p.Glu165Lys) rs1323700017
NM_006158.5(NEFL):c.494A>C (p.Glu165Ala)
NM_006158.5(NEFL):c.503A>G (p.Glu168Gly)
NM_006158.5(NEFL):c.507G>C (p.Glu169Asp)
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)
NM_006158.5(NEFL):c.531C>T (p.Arg177=)
NM_006158.5(NEFL):c.533A>G (p.Tyr178Cys)
NM_006158.5(NEFL):c.542A>C (p.Glu181Ala)
NM_006158.5(NEFL):c.54C>G (p.Tyr18Ter) rs1431523432
NM_006158.5(NEFL):c.54C>T (p.Tyr18=)
NM_006158.5(NEFL):c.551G>A (p.Ser184Asn)
NM_006158.5(NEFL):c.556G>C (p.Glu186Gln)
NM_006158.5(NEFL):c.55G>A (p.Val19Met) rs1424618809
NM_006158.5(NEFL):c.569G>T (p.Gly190Val) rs1803044984
NM_006158.5(NEFL):c.572G>A (p.Arg191Gln) rs755170407
NM_006158.5(NEFL):c.581A>G (p.Glu194Gly)
NM_006158.5(NEFL):c.582A>C (p.Glu194Asp) rs532240912
NM_006158.5(NEFL):c.586C>A (p.Arg196Ser)
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.594C>G (p.Gly198=)
NM_006158.5(NEFL):c.596C>T (p.Ala199Val)
NM_006158.5(NEFL):c.598G>A (p.Asp200Asn)
NM_006158.5(NEFL):c.598G>C (p.Asp200His) rs1312229375
NM_006158.5(NEFL):c.603G>T (p.Glu201Asp) rs1217355732
NM_006158.5(NEFL):c.604G>A (p.Ala202Thr)
NM_006158.5(NEFL):c.608C>T (p.Ala203Val) rs753319598
NM_006158.5(NEFL):c.609G>T (p.Ala203=)
NM_006158.5(NEFL):c.614C>T (p.Ala205Val) rs556617527
NM_006158.5(NEFL):c.615T>C (p.Ala205=)
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.621C>G (p.Ala207=) rs763294014
NM_006158.5(NEFL):c.62_64delinsTTT (p.Thr21_Pro22delinsIleSer) rs2117255966
NM_006158.5(NEFL):c.630G>A (p.Glu210=) rs1803043048
NM_006158.5(NEFL):c.636C>T (p.Arg212=)
NM_006158.5(NEFL):c.639C>T (p.Ile213=)
NM_006158.5(NEFL):c.648G>A (p.Leu216=)
NM_006158.5(NEFL):c.649A>C (p.Met217Leu)
NM_006158.5(NEFL):c.64C>G (p.Pro22Ala) rs28928910
NM_006158.5(NEFL):c.64C>T (p.Pro22Ser) rs28928910
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.662C>T (p.Ser221Phe)
NM_006158.5(NEFL):c.668T>C (p.Leu223Pro) rs1563251953
NM_006158.5(NEFL):c.66C>T (p.Pro22=)
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)
NM_006158.5(NEFL):c.682G>C (p.Glu228Gln) rs895511770
NM_006158.5(NEFL):c.688G>A (p.Glu230Lys) rs758201328
NM_006158.5(NEFL):c.68G>C (p.Arg23Pro) rs745353207
NM_006158.5(NEFL):c.705G>A (p.Gln235=)
NM_006158.5(NEFL):c.709C>G (p.Gln237Glu)
NM_006158.5(NEFL):c.712A>T (p.Ile238Phe) rs534615840
NM_006158.5(NEFL):c.729C>A (p.Ile243=) rs1586128322
NM_006158.5(NEFL):c.738G>A (p.Glu246=)
NM_006158.5(NEFL):c.748A>C (p.Thr250Pro)
NM_006158.5(NEFL):c.74_88del (p.His25_Val29del)
NM_006158.5(NEFL):c.761T>C (p.Leu254Pro) rs1554497578
NM_006158.5(NEFL):c.763T>C (p.Ser255Pro)
NM_006158.5(NEFL):c.767C>G (p.Ala256Gly)
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.789G>A (p.Ala263=)
NM_006158.5(NEFL):c.78C>A (p.Ile26=)
NM_006158.5(NEFL):c.793T>A (p.Tyr265Asn)
NM_006158.5(NEFL):c.793T>G (p.Tyr265Asp) rs1554497573
NM_006158.5(NEFL):c.795C>G (p.Tyr265Ter) rs2117254540
NM_006158.5(NEFL):c.796G>A (p.Glu266Lys) rs1411999109
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.799_803del (p.Lys267fs)
NM_006158.5(NEFL):c.79T>C (p.Ser27Pro) rs2117255911
NM_006158.5(NEFL):c.818T>C (p.Met273Thr)
NM_006158.5(NEFL):c.820C>G (p.Gln274Glu) rs2117254497
NM_006158.5(NEFL):c.821A>G (p.Gln274Arg) rs756114856
NM_006158.5(NEFL):c.832del (p.Glu278fs)
NM_006158.5(NEFL):c.834A>G (p.Glu278=) rs752136885
NM_006158.5(NEFL):c.836G>T (p.Trp279Leu)
NM_006158.5(NEFL):c.841A>G (p.Lys281Glu)
NM_006158.5(NEFL):c.845G>A (p.Ser282Asn) rs1803037186
NM_006158.5(NEFL):c.864C>A (p.Thr288=)
NM_006158.5(NEFL):c.865G>T (p.Glu289Ter) rs1586128143
NM_006158.5(NEFL):c.865_871del (p.Glu289fs)
NM_006158.5(NEFL):c.867G>C (p.Glu289Asp)
NM_006158.5(NEFL):c.868A>G (p.Ser290Gly) rs777110668
NM_006158.5(NEFL):c.86T>C (p.Val29Ala) rs372748927
NM_006158.5(NEFL):c.870C>G (p.Ser290Arg) rs2117254420
NM_006158.5(NEFL):c.873C>A (p.Ala291=)
NM_006158.5(NEFL):c.876C>T (p.Ala292=) rs2117254402
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.88C>A (p.Arg30Ser)
NM_006158.5(NEFL):c.898GCC[1] (p.Ala301del) rs765310700
NM_006158.5(NEFL):c.903C>T (p.Ala301=) rs2117254339
NM_006158.5(NEFL):c.906G>A (p.Lys302=) rs2117254336
NM_006158.5(NEFL):c.918C>T (p.Ser306=)
NM_006158.5(NEFL):c.925C>T (p.Arg309Cys) rs1803035476
NM_006158.5(NEFL):c.932T>C (p.Leu311Pro)
NM_006158.5(NEFL):c.935T>C (p.Leu312Pro)
NM_006158.5(NEFL):c.940G>A (p.Ala314Thr)
NM_006158.5(NEFL):c.940_945del (p.Ala314_Lys315del)
NM_006158.5(NEFL):c.94G>C (p.Gly32Arg)
NM_006158.5(NEFL):c.957C>A (p.Ile319=) rs758135536
NM_006158.5(NEFL):c.958G>A (p.Glu320Lys)
NM_006158.5(NEFL):c.968G>A (p.Arg323Gln)
NM_006158.5(NEFL):c.968G>C (p.Arg323Pro) rs864622499
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.984G>T (p.Ala328=) rs759524661
NM_006158.5(NEFL):c.985C>G (p.Leu329Val)
NM_006158.5(NEFL):c.986T>C (p.Leu329Pro) rs876661290
NM_006158.5(NEFL):c.990_1013dup (p.Glu330_Glu337dup) rs1586127947
NM_006158.5(NEFL):c.993G>A (p.Lys331=)
NM_006158.5(NEFL):c.995A>C (p.Gln332Pro) rs59443585
NM_006158.5(NEFL):c.997C>G (p.Leu333Val)
NM_006158.5(NEFL):c.998T>C (p.Leu333Pro) rs60930717

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