ClinVar Miner

List of variants in gene NEFL studied for not provided

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Gene type:
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Total variants: 131
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HGVS dbSNP gnomAD frequency
NM_006158.3(NEFL):c.-374A>G rs2979687 0.59042
NM_006158.4(NEFL):c.-176C>A rs2979688 0.53692
NM_006158.5(NEFL):c.1044+39G>C rs6982740 0.07439
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.*101A>G rs34505194 0.00356
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.1610A>G (p.Gln537Arg) rs377121179 0.00058
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.1560C>A (p.Thr520=) rs267607677 0.00010
NM_006158.5(NEFL):c.628G>C (p.Glu210Gln) rs199422214 0.00009
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.1590T>G (p.Val530=) rs267607679 0.00006
NM_006158.5(NEFL):c.1310G>A (p.Arg437His) rs369991241 0.00004
NM_006158.5(NEFL):c.1585A>G (p.Lys529Glu) rs773979111 0.00003
NM_006158.5(NEFL):c.182C>T (p.Ser61Phe) rs1368855205 0.00003
NM_006158.5(NEFL):c.*2C>A rs754312148 0.00002
NM_006158.5(NEFL):c.279G>A (p.Gln93=) rs60737254 0.00002
NM_006158.5(NEFL):c.45G>A (p.Lys15=) rs62636518 0.00002
NM_006158.5(NEFL):c.1029C>G (p.Asp343Glu) rs781084022 0.00001
NM_006158.5(NEFL):c.123C>T (p.Ser41=) rs57762083 0.00001
NM_006158.5(NEFL):c.1395A>G (p.Glu465=) rs755320728 0.00001
NM_006158.5(NEFL):c.1429G>A (p.Glu477Lys) rs749163947 0.00001
NM_006158.5(NEFL):c.146C>T (p.Ser49Phe) rs779764890 0.00001
NM_006158.5(NEFL):c.1492G>A (p.Ala498Thr) rs151208148 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.19G>A (p.Glu7Lys) rs57848467 0.00001
NM_006158.5(NEFL):c.202C>G (p.Leu68Val) rs1328701916 0.00001
NM_006158.5(NEFL):c.217C>G (p.Leu73Val) rs755889503 0.00001
NM_006158.5(NEFL):c.447G>A (p.Ala149=) rs1054658308 0.00001
NM_006158.5(NEFL):c.490C>G (p.Arg164Gly) rs752771636 0.00001
NM_006158.5(NEFL):c.648G>C (p.Leu216Phe) rs35575466 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.*235A>T rs1059111
NM_006158.5(NEFL):c.*6del rs754981398
NM_006158.5(NEFL):c.-44_-42delinsATG rs267607675
NM_006158.5(NEFL):c.-54TC[3] rs267607678
NM_006158.5(NEFL):c.1007T>C (p.Leu336Pro) rs587777881
NM_006158.5(NEFL):c.1038T>C (p.Ala346=) rs2117254129
NM_006158.5(NEFL):c.1044+46G>A rs143338656
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.1186G>A (p.Glu396Lys) rs62636503
NM_006158.5(NEFL):c.1189G>A (p.Glu397Lys) rs57105105
NM_006158.5(NEFL):c.1195C>T (p.Arg399Ter) rs1429859627
NM_006158.5(NEFL):c.1196G>C (p.Arg399Pro) rs372997416
NM_006158.5(NEFL):c.1240C>A (p.Gln414Lys)
NM_006158.5(NEFL):c.1262G>A (p.Arg421Gln)
NM_006158.5(NEFL):c.1265C>T (p.Ser422Phe) rs1803002899
NM_006158.5(NEFL):c.1267G>C (p.Ala423Pro) rs1563251230
NM_006158.5(NEFL):c.1284G>C (p.Gln428His) rs931901985
NM_006158.5(NEFL):c.1319C>T (p.Pro440Leu) rs587777882
NM_006158.5(NEFL):c.1329C>A (p.Tyr443Ter) rs140532785
NM_006158.5(NEFL):c.1373T>C (p.Ile458Thr) rs372034119
NM_006158.5(NEFL):c.137C>G (p.Pro46Arg)
NM_006158.5(NEFL):c.139G>T (p.Val47Leu)
NM_006158.5(NEFL):c.1438G>A (p.Glu480Lys)
NM_006158.5(NEFL):c.1482G>T (p.Glu494Asp) rs1554497313
NM_006158.5(NEFL):c.1490-193C>T rs79337695
NM_006158.5(NEFL):c.1502A>G (p.Glu501Gly) rs1802990111
NM_006158.5(NEFL):c.1554G>C (p.Glu518Asp) rs754666321
NM_006158.5(NEFL):c.1573GAG[2] (p.Glu527del) rs3832558
NM_006158.5(NEFL):c.1576dup (p.Glu526fs) rs267607536
NM_006158.5(NEFL):c.1579G>A (p.Glu527Lys) rs1802988556
NM_006158.5(NEFL):c.189G>A (p.Ser63=) rs59408749
NM_006158.5(NEFL):c.194T>C (p.Met65Thr)
NM_006158.5(NEFL):c.197C>T (p.Pro66Leu) rs2117255738
NM_006158.5(NEFL):c.227T>A (p.Val76Glu) rs58907919
NM_006158.5(NEFL):c.22C>A (p.Pro8Thr) rs886043551
NM_006158.5(NEFL):c.22_23delinsAG (p.Pro8Arg) rs60261494
NM_006158.5(NEFL):c.23C>A (p.Pro8Gln) rs61491953
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.268G>A (p.Glu90Lys) rs58332872
NM_006158.5(NEFL):c.281T>C (p.Leu94Pro) rs62636505
NM_006158.5(NEFL):c.289C>T (p.Leu97Phe) rs587777888
NM_006158.5(NEFL):c.292A>C (p.Asn98His)
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.307A>T (p.Ser103Cys)
NM_006158.5(NEFL):c.311T>C (p.Phe104Ser)
NM_006158.5(NEFL):c.338_339delinsCC (p.Gln113Pro) rs1554497641
NM_006158.5(NEFL):c.353T>G (p.Leu118Arg) rs1554497639
NM_006158.5(NEFL):c.370G>A (p.Val124Met)
NM_006158.5(NEFL):c.398C>T (p.Ser133Phe)
NM_006158.5(NEFL):c.417C>G (p.Tyr139Ter) rs545637885
NM_006158.5(NEFL):c.418G>T (p.Glu140Ter) rs121913663
NM_006158.5(NEFL):c.431G>A (p.Arg144His) rs867221125
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.460A>C (p.Thr154Pro) rs1803048937
NM_006158.5(NEFL):c.487G>C (p.Glu163Gln) rs876661155
NM_006158.5(NEFL):c.48_60dup (p.Thr21fs) rs58640772
NM_006158.5(NEFL):c.507G>C (p.Glu169Asp)
NM_006158.5(NEFL):c.509C>G (p.Thr170Ser) rs541360328
NM_006158.5(NEFL):c.509C>T (p.Thr170Ile) rs541360328
NM_006158.5(NEFL):c.520C>T (p.Leu174=) rs1180143355
NM_006158.5(NEFL):c.582A>C (p.Glu194Asp) rs532240912
NM_006158.5(NEFL):c.598G>T (p.Asp200Tyr) rs1312229375
NM_006158.5(NEFL):c.604G>A (p.Ala202Thr)
NM_006158.5(NEFL):c.616C>G (p.Arg206Gly) rs771763817
NM_006158.5(NEFL):c.621C>A (p.Ala207=)
NM_006158.5(NEFL):c.634C>T (p.Arg212Cys)
NM_006158.5(NEFL):c.64C>A (p.Pro22Thr) rs28928910
NM_006158.5(NEFL):c.64C>T (p.Pro22Ser) rs28928910
NM_006158.5(NEFL):c.65C>G (p.Pro22Arg) rs267607538
NM_006158.5(NEFL):c.65C>T (p.Pro22Leu) rs267607538
NM_006158.5(NEFL):c.66C>T (p.Pro22=)
NM_006158.5(NEFL):c.726G>C (p.Gln242His)
NM_006158.5(NEFL):c.781A>G (p.Ile261Val) rs746088359
NM_006158.5(NEFL):c.793T>G (p.Tyr265Asp) rs1554497573
NM_006158.5(NEFL):c.794A>G (p.Tyr265Cys) rs587777880
NM_006158.5(NEFL):c.796G>A (p.Glu266Lys) rs1411999109
NM_006158.5(NEFL):c.803T>C (p.Leu268Pro) rs62636502
NM_006158.5(NEFL):c.803T>G (p.Leu268Arg) rs62636502
NM_006158.5(NEFL):c.865G>T (p.Glu289Ter) rs1586128143
NM_006158.5(NEFL):c.882C>G (p.Asn294Lys) rs946938553
NM_006158.5(NEFL):c.963_977del (p.Cys322_Asn326del) rs267607537
NM_006158.5(NEFL):c.969G>T (p.Arg323=) rs62636521
NM_006158.5(NEFL):c.986T>C (p.Leu329Pro) rs876661290
NM_006158.5(NEFL):c.995A>C (p.Gln332Pro) rs59443585
NM_006158.5(NEFL):c.998T>C (p.Leu333Pro) rs60930717

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