ClinVar Miner

List of variants in gene NEFL studied for Charcot-Marie-Tooth disease

Included ClinVar conditions (138):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 226
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HGVS dbSNP
NC_000008.10:g.(?_24810303)_(24814049_?)dup
NC_000008.10:g.(?_24810313)_(24814039_?)dup
NC_000008.11:g.24956698G>C
NC_000008.11:g.24956763G>C
NC_000008.11:g.24956773G>C
NM_006158.4(NEFL):c.*101A>G rs34505194
NM_006158.4(NEFL):c.*1342A>G rs886062830
NM_006158.4(NEFL):c.*1344G>A rs79034217
NM_006158.4(NEFL):c.*1349T>G rs886062828
NM_006158.4(NEFL):c.*1482C>T rs886062827
NM_006158.4(NEFL):c.*171C>G rs886062834
NM_006158.4(NEFL):c.*1744T>C rs886062825
NM_006158.4(NEFL):c.*1806T>C rs192937928
NM_006158.4(NEFL):c.*244A>G rs78869168
NM_006158.4(NEFL):c.*486T>G rs562682645
NM_006158.4(NEFL):c.*51A>G rs538082598
NM_006158.4(NEFL):c.*577T>C rs886062832
NM_006158.4(NEFL):c.*82T>A rs148654058
NM_006158.4(NEFL):c.*856T>C rs886062831
NM_006158.4(NEFL):c.*878A>G rs189452316
NM_006158.4(NEFL):c.-176C>A rs2979688
NM_006158.4(NEFL):c.-68T>A rs886062836
NM_006158.4(NEFL):c.1001A>C (p.Gln334Pro) rs281865140
NM_006158.4(NEFL):c.1006C>G (p.Leu336Val) rs551896980
NM_006158.4(NEFL):c.1007T>C (p.Leu336Pro) rs587777881
NM_006158.4(NEFL):c.1011G>A (p.Glu337=) rs761206907
NM_006158.4(NEFL):c.1016A>C (p.Lys339Thr) rs1586127945
NM_006158.4(NEFL):c.1026C>G (p.Ala342=) rs35596950
NM_006158.4(NEFL):c.1032C>G (p.Ile344Met) rs1586127924
NM_006158.4(NEFL):c.1044+5G>C rs779620367
NM_006158.4(NEFL):c.1044G>A (p.Gln348=) rs1234285997
NM_006158.4(NEFL):c.1069G>A (p.Glu357Lys) rs1060503693
NM_006158.4(NEFL):c.1080C>T (p.Thr360=) rs760765563
NM_006158.4(NEFL):c.1117C>T (p.Gln373Ter) rs757417962
NM_006158.4(NEFL):c.1154A>T (p.Glu385Val) rs1563251398
NM_006158.4(NEFL):c.1175T>A (p.Leu392His) rs1554497393
NM_006158.4(NEFL):c.1179G>C (p.Leu393Phe) rs879253927
NM_006158.4(NEFL):c.1185C>T (p.Gly395=) rs751512030
NM_006158.4(NEFL):c.1186G>A (p.Glu396Lys) rs62636503
NM_006158.4(NEFL):c.1196G>A (p.Arg399Gln) rs372997416
NM_006158.4(NEFL):c.1212C>T (p.Ser404=) rs60547413
NM_006158.4(NEFL):c.1213G>A (p.Val405Met) rs558941336
NM_006158.4(NEFL):c.1261C>A (p.Arg421=) rs191346286
NM_006158.4(NEFL):c.1261C>T (p.Arg421Ter) rs191346286
NM_006158.4(NEFL):c.1275C>T (p.Gly425=) rs114329068
NM_006158.4(NEFL):c.1292C>G (p.Ser431Cys) rs559215942
NM_006158.4(NEFL):c.1302G>A (p.Met434Ile) rs922905627
NM_006158.4(NEFL):c.1319C>T (p.Pro440Leu) rs587777882
NM_006158.4(NEFL):c.1324_1326TAC[1] (p.Tyr443del) rs1554497354
NM_006158.4(NEFL):c.1329C>T (p.Tyr443=) rs140532785
NM_006158.4(NEFL):c.1333A>G (p.Ser445Gly) rs1563251190
NM_006158.4(NEFL):c.1340T>C (p.Val447Ala) rs1045761358
NM_006158.4(NEFL):c.1402G>A (p.Asp468Asn) rs57153321
NM_006158.4(NEFL):c.141G>A (p.Val47=) rs886062835
NM_006158.4(NEFL):c.1429G>A (p.Glu477Lys) rs749163947
NM_006158.4(NEFL):c.1438_1440delinsAGA (p.Glu480Arg) rs1586126391
NM_006158.4(NEFL):c.1458C>T (p.Ala486=) rs61726486
NM_006158.4(NEFL):c.1461G>A (p.Glu487=) rs763418924
NM_006158.4(NEFL):c.1462G>A (p.Glu488Lys) rs773570365
NM_006158.4(NEFL):c.1513G>A (p.Ala505Thr) rs1060503694
NM_006158.4(NEFL):c.1528G>A (p.Glu510Lys) rs749256770
NM_006158.4(NEFL):c.1534G>T (p.Gly512Cys) rs267601870
NM_006158.4(NEFL):c.1540G>C (p.Gly514Arg) rs1586126037
NM_006158.4(NEFL):c.1560C>A (p.Thr520=) rs267607677
NM_006158.4(NEFL):c.1610A>G (p.Gln537Arg) rs377121179
NM_006158.4(NEFL):c.19G>A (p.Glu7Lys) rs57848467
NM_006158.4(NEFL):c.207G>A (p.Glu69=) rs367732440
NM_006158.4(NEFL):c.217C>G (p.Leu73Val) rs755889503
NM_006158.4(NEFL):c.227T>C (p.Val76Ala) rs58907919
NM_006158.4(NEFL):c.22C>A (p.Pro8Thr) rs886043551
NM_006158.4(NEFL):c.22C>T (p.Pro8Ser) rs886043551
NM_006158.4(NEFL):c.22_23delCCinsAG (p.Pro8Arg) rs60261494
NM_006158.4(NEFL):c.23C>A (p.Pro8Gln) rs61491953
NM_006158.4(NEFL):c.23C>G (p.Pro8Arg) rs61491953
NM_006158.4(NEFL):c.23C>T (p.Pro8Leu) rs61491953
NM_006158.4(NEFL):c.243C>A (p.Asn81Lys) rs761847300
NM_006158.4(NEFL):c.270G>C (p.Glu90Asp) rs767370918
NM_006158.4(NEFL):c.281T>C (p.Leu94Pro) rs62636505
NM_006158.4(NEFL):c.289C>A (p.Leu97Ile) rs587777888
NM_006158.4(NEFL):c.289C>T (p.Leu97Phe) rs587777888
NM_006158.4(NEFL):c.293A>G (p.Asn98Ser) rs58982919
NM_006158.4(NEFL):c.294T>G (p.Asn98Lys) rs1057517776
NM_006158.4(NEFL):c.321C>G (p.Arg107=) rs1198042093
NM_006158.4(NEFL):c.338_339delinsCC (p.Gln113Pro) rs1554497641
NM_006158.4(NEFL):c.352C>T (p.Leu118=) rs1254381816
NM_006158.4(NEFL):c.415T>A (p.Tyr139Asn) rs868126991
NM_006158.4(NEFL):c.418G>A (p.Glu140Lys) rs121913663
NM_006158.4(NEFL):c.418G>T (p.Glu140Ter) rs121913663
NM_006158.4(NEFL):c.423G>A (p.Gln141=) rs59161567
NM_006158.4(NEFL):c.443T>A (p.Leu148Gln) rs1338365987
NM_006158.4(NEFL):c.446C>T (p.Ala149Val) rs59101996
NM_006158.4(NEFL):c.45G>A (p.Lys15=) rs62636518
NM_006158.4(NEFL):c.487G>T (p.Glu163Ter) rs876661155
NM_006158.4(NEFL):c.48_60dup (p.Thr21fs) rs58640772
NM_006158.4(NEFL):c.490C>G (p.Arg164Gly) rs752771636
NM_006158.4(NEFL):c.509C>G (p.Thr170Ser) rs541360328
NM_006158.4(NEFL):c.530G>T (p.Arg177Leu) rs1450236716
NM_006158.4(NEFL):c.532T>A (p.Tyr178Asn) rs550216338
NM_006158.4(NEFL):c.579G>A (p.Met193Ile) rs367943135
NM_006158.4(NEFL):c.582A>C (p.Glu194Asp) rs532240912
NM_006158.4(NEFL):c.584C>T (p.Ala195Val) rs185200977
NM_006158.4(NEFL):c.58G>A (p.Glu20Lys) rs779821785
NM_006158.4(NEFL):c.593G>C (p.Gly198Ala) rs1554497605
NM_006158.4(NEFL):c.598G>C (p.Asp200His) rs1312229375
NM_006158.4(NEFL):c.608C>T (p.Ala203Val) rs753319598
NM_006158.4(NEFL):c.621C>G (p.Ala207=) rs763294014
NM_006158.4(NEFL):c.628G>T (p.Glu210Ter) rs199422214
NM_006158.4(NEFL):c.637A>G (p.Ile213Val) rs538481538
NM_006158.4(NEFL):c.639C>G (p.Ile213Met) rs62636522
NM_006158.4(NEFL):c.64C>A (p.Pro22Thr) rs28928910
NM_006158.4(NEFL):c.65C>A (p.Pro22His) rs267607538
NM_006158.4(NEFL):c.65C>G (p.Pro22Arg) rs267607538
NM_006158.4(NEFL):c.667C>T (p.Leu223=) rs60156239
NM_006158.4(NEFL):c.668T>C (p.Leu223Pro) rs1563251953
NM_006158.4(NEFL):c.677T>C (p.Val226Ala) rs1586128391
NM_006158.4(NEFL):c.67C>G (p.Arg23Gly) rs772092001
NM_006158.4(NEFL):c.688G>A (p.Glu230Lys) rs758201328
NM_006158.4(NEFL):c.716A>G (p.Gln239Arg) rs1170226456
NM_006158.4(NEFL):c.743A>C (p.Asp248Ala) rs927119938
NM_006158.4(NEFL):c.755C>T (p.Pro252Leu) rs373569840
NM_006158.4(NEFL):c.761T>C (p.Leu254Pro) rs1554497578
NM_006158.4(NEFL):c.780C>T (p.Asp260=) rs878854817
NM_006158.4(NEFL):c.78_81delinsTTCT (p.Ile26_Ser27=) rs1060504999
NM_006158.4(NEFL):c.793T>G (p.Tyr265Asp) rs1554497573
NM_006158.4(NEFL):c.794A>G (p.Tyr265Cys) rs587777880
NM_006158.4(NEFL):c.796G>A (p.Glu266Lys) rs1411999109
NM_006158.4(NEFL):c.797A>G (p.Glu266Gly) rs1367433683
NM_006158.4(NEFL):c.803T>C (p.Leu268Pro) rs62636502
NM_006158.4(NEFL):c.808G>T (p.Ala270Ser) rs749160052
NM_006158.4(NEFL):c.821A>G (p.Gln274Arg) rs756114856
NM_006158.4(NEFL):c.837G>A (p.Trp279Ter) rs1586128169
NM_006158.4(NEFL):c.855C>T (p.Thr285=) rs1065083
NM_006158.4(NEFL):c.882C>A (p.Asn294Lys) rs946938553
NM_006158.4(NEFL):c.968G>C (p.Arg323Pro) rs864622499
NM_006158.4(NEFL):c.983C>A (p.Ala328Glu) rs768190580
NM_006158.4(NEFL):c.984G>T (p.Ala328=) rs759524661
NM_006158.4(NEFL):c.986T>C (p.Leu329Pro) rs876661290
NM_006158.4(NEFL):c.990_1013dup (p.Glu330_Glu337dup) rs1586127947
NM_006158.4(NEFL):c.995A>C (p.Gln332Pro) rs59443585
NM_006158.5(NEFL):c.*1101G>A
NM_006158.5(NEFL):c.*1153T>G
NM_006158.5(NEFL):c.*1293A>G
NM_006158.5(NEFL):c.*1383C>T
NM_006158.5(NEFL):c.*1464A>G
NM_006158.5(NEFL):c.*2C>A
NM_006158.5(NEFL):c.*436T>G
NM_006158.5(NEFL):c.1008_1010GGA[1] (p.Glu337del)
NM_006158.5(NEFL):c.1027G>A (p.Asp343Asn)
NM_006158.5(NEFL):c.1027_1029del (p.Asp343del)
NM_006158.5(NEFL):c.1029C>G (p.Asp343Glu)
NM_006158.5(NEFL):c.1037C>A (p.Ala346Asp) rs368370291
NM_006158.5(NEFL):c.1039_1040del (p.Met347fs)
NM_006158.5(NEFL):c.1049C>T (p.Thr350Met)
NM_006158.5(NEFL):c.1086G>A (p.Lys362=)
NM_006158.5(NEFL):c.1100G>A (p.Arg367Gln)
NM_006158.5(NEFL):c.1123C>T (p.Leu375Phe)
NM_006158.5(NEFL):c.1145T>C (p.Leu382Ser)
NM_006158.5(NEFL):c.1167C>T (p.Tyr389=)
NM_006158.5(NEFL):c.1169+14G>A
NM_006158.5(NEFL):c.1169+3G>A rs1209043497
NM_006158.5(NEFL):c.1193C>A (p.Thr398Asn)
NM_006158.5(NEFL):c.1196G>C (p.Arg399Pro)
NM_006158.5(NEFL):c.1236C>A (p.Tyr412Ter) rs746267609
NM_006158.5(NEFL):c.1245C>G (p.Ser415Arg)
NM_006158.5(NEFL):c.1276G>A (p.Gly426Ser)
NM_006158.5(NEFL):c.1315T>A (p.Phe439Ile)
NM_006158.5(NEFL):c.1325A>G (p.Tyr442Cys)
NM_006158.5(NEFL):c.1330A>C (p.Thr444Pro) rs201455550
NM_006158.5(NEFL):c.1347G>C (p.Glu449Asp)
NM_006158.5(NEFL):c.1351C>G (p.Gln451Glu)
NM_006158.5(NEFL):c.1357G>A (p.Glu453Lys)
NM_006158.5(NEFL):c.1407G>A (p.Glu469=) rs543609297
NM_006158.5(NEFL):c.1408C>T (p.Pro470Ser)
NM_006158.5(NEFL):c.1413_1414= (p.Pro471_Ser472=)
NM_006158.5(NEFL):c.1413del (p.Ser472fs) rs11300136
NM_006158.5(NEFL):c.1414del (p.Ser472fs) rs780764641
NM_006158.5(NEFL):c.1459G>T (p.Glu487Ter)
NM_006158.5(NEFL):c.1489+6A>T
NM_006158.5(NEFL):c.1517AAG[4] (p.Glu510del)
NM_006158.5(NEFL):c.1532_1537dup (p.Gly511_Gly512dup)
NM_006158.5(NEFL):c.1559C>T (p.Thr520Ile)
NM_006158.5(NEFL):c.1573_1575GAG[2] (p.Glu527del) rs3832558
NM_006158.5(NEFL):c.1611A>G (p.Gln537=)
NM_006158.5(NEFL):c.1612G>A (p.Ala538Thr)
NM_006158.5(NEFL):c.214G>T (p.Asp72Tyr)
NM_006158.5(NEFL):c.215A>C (p.Asp72Ala)
NM_006158.5(NEFL):c.235A>G (p.Ile79Val)
NM_006158.5(NEFL):c.269A>G (p.Glu90Gly)
NM_006158.5(NEFL):c.280C>T (p.Leu94Phe) rs1586128912
NM_006158.5(NEFL):c.290T>C (p.Leu97Pro)
NM_006158.5(NEFL):c.290T>G (p.Leu97Arg)
NM_006158.5(NEFL):c.298C>T (p.Arg100Cys)
NM_006158.5(NEFL):c.304G>T (p.Ala102Ser)
NM_006158.5(NEFL):c.30C>T (p.Tyr10=) rs1484620251
NM_006158.5(NEFL):c.32C>A (p.Ser11Ter)
NM_006158.5(NEFL):c.338A>C (p.Gln113Pro)
NM_006158.5(NEFL):c.339G>C (p.Gln113His)
NM_006158.5(NEFL):c.360C>T (p.Ala120=) rs368829273
NM_006158.5(NEFL):c.420G>A (p.Glu140=) rs1586128713
NM_006158.5(NEFL):c.44A>C (p.Lys15Thr)
NM_006158.5(NEFL):c.44A>G (p.Lys15Arg)
NM_006158.5(NEFL):c.486C>T (p.Gly162=)
NM_006158.5(NEFL):c.493G>A (p.Glu165Lys)
NM_006158.5(NEFL):c.507G>A (p.Glu169=)
NM_006158.5(NEFL):c.509C>T (p.Thr170Ile)
NM_006158.5(NEFL):c.516C>T (p.Arg172=)
NM_006158.5(NEFL):c.540G>C (p.Glu180Asp)
NM_006158.5(NEFL):c.541G>T (p.Glu181Ter)
NM_006158.5(NEFL):c.558G>A (p.Glu186=)
NM_006158.5(NEFL):c.564C>G (p.Ala188=)
NM_006158.5(NEFL):c.612C>T (p.Leu204=)
NM_006158.5(NEFL):c.614C>T (p.Ala205Val)
NM_006158.5(NEFL):c.619G>C (p.Ala207Pro)
NM_006158.5(NEFL):c.630G>A (p.Glu210=)
NM_006158.5(NEFL):c.64C>T (p.Pro22Ser) rs28928910
NM_006158.5(NEFL):c.678G>T (p.Val226=)
NM_006158.5(NEFL):c.67C>T (p.Arg23Trp)
NM_006158.5(NEFL):c.712A>T (p.Ile238Phe)
NM_006158.5(NEFL):c.717G>A (p.Gln239=)
NM_006158.5(NEFL):c.721G>A (p.Ala241Thr)
NM_006158.5(NEFL):c.73C>A (p.His25Asn)
NM_006158.5(NEFL):c.845G>A (p.Ser282Asn)
NM_006158.5(NEFL):c.86T>C (p.Val29Ala)
NM_006158.5(NEFL):c.967C>T (p.Arg323Trp)
NM_006158.5(NEFL):c.993_994insT (p.Gln332fs)
NM_006158.5(NEFL):c.999_1004delinsTGTCG (p.Gln334fs)

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