ClinVar Miner

List of variants in gene NEFL reported as uncertain significance by Invitae

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 243
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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.1276G>A (p.Gly426Ser) rs372245403 0.00010
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.1310G>A (p.Arg437His) rs369991241 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.755C>T (p.Pro252Leu) rs373569840 0.00003
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.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.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.1196G>A (p.Arg399Gln) rs372997416 0.00001
NM_006158.5(NEFL):c.1213G>A (p.Val405Met) rs558941336 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.1351C>G (p.Gln451Glu) rs773307364 0.00001
NM_006158.5(NEFL):c.1357G>A (p.Glu453Lys) rs1249514180 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.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.235A>G (p.Ile79Val) rs765260132 0.00001
NM_006158.5(NEFL):c.270G>C (p.Glu90Asp) rs767370918 0.00001
NM_006158.5(NEFL):c.418G>A (p.Glu140Lys) rs121913663 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.637A>G (p.Ile213Val) rs538481538 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.721G>A (p.Ala241Thr) rs1415523458 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.874G>T (p.Ala292Ser) rs761264386 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_006158.5(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.1027G>A (p.Asp343Asn) rs973190345
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.104C>T (p.Thr35Ile)
NM_006158.5(NEFL):c.109C>T (p.Arg37Cys)
NM_006158.5(NEFL):c.1171A>G (p.Lys391Glu) rs2117251897
NM_006158.5(NEFL):c.1180G>A (p.Glu394Lys) rs2117251886
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.1247C>T (p.Ser416Phe)
NM_006158.5(NEFL):c.1248C>T (p.Ser416=)
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.1284G>A (p.Gln428=) rs931901985
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.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.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.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.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.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.1576G>A (p.Glu526Lys)
NM_006158.5(NEFL):c.1597G>T (p.Ala533Ser)
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.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>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.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.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.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.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.331C>G (p.Leu111Val)
NM_006158.5(NEFL):c.334G>A (p.Glu112Lys) rs2117255452
NM_006158.5(NEFL):c.365T>G (p.Leu122Arg)
NM_006158.5(NEFL):c.377G>A (p.Arg126His) rs1364995930
NM_006158.5(NEFL):c.398C>T (p.Ser133Phe)
NM_006158.5(NEFL):c.415T>A (p.Tyr139Asn) rs868126991
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.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.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.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.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.614C>T (p.Ala205Val) rs556617527
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.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.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.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.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.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)
NM_006158.5(NEFL):c.820C>G (p.Gln274Glu) rs2117254497
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.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.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.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.958G>A (p.Glu320Lys)
NM_006158.5(NEFL):c.968G>A (p.Arg323Gln)
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)
NM_006158.5(NEFL):c.990_1013dup (p.Glu330_Glu337dup) rs1586127947
NM_006158.5(NEFL):c.997C>G (p.Leu333Val)
NM_006158.5(NEFL):c.998T>C (p.Leu333Pro) rs60930717

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