ClinVar Miner

List of variants in gene NEFL reported as likely benign for Charcot-Marie-Tooth disease

Included ClinVar conditions (172):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 115
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HGVS dbSNP gnomAD frequency
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.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.*436T>G rs542234603 0.00038
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.339G>C (p.Gln113His) rs750251152 0.00013
NM_006158.5(NEFL):c.423G>A (p.Gln141=) rs59161567 0.00012
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.1461G>A (p.Glu487=) rs763418924 0.00005
NM_006158.5(NEFL):c.174C>T (p.Ser58=) rs760360980 0.00004
NM_006158.5(NEFL):c.1315T>A (p.Phe439Ile) rs199775873 0.00003
NM_006158.5(NEFL):c.564C>G (p.Ala188=) rs1457926450 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.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.1006C>G (p.Leu336Val) rs551896980 0.00001
NM_006158.5(NEFL):c.1044+16A>G rs559696196 0.00001
NM_006158.5(NEFL):c.123C>T (p.Ser41=) rs57762083 0.00001
NM_006158.5(NEFL):c.1320G>A (p.Pro440=) rs541109299 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.1578G>A (p.Glu526=) rs759816126 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.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.436C>T (p.Leu146=) rs772789963 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.63G>T (p.Thr21=) rs1246523840 0.00001
NM_006158.5(NEFL):c.720C>T (p.Tyr240=) rs58975336 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.816C>T (p.Asn272=) rs373809857 0.00001
NM_006158.5(NEFL):c.873C>T (p.Ala291=) rs1466451392 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
NM_006158.4(NEFL):c.78_81delinsTTCT (p.Ile26_Ser27=) rs1060504999
NM_006158.5(NEFL):c.1026C>A (p.Ala342=)
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+9C>A rs757926597
NM_006158.5(NEFL):c.105C>T (p.Thr35=)
NM_006158.5(NEFL):c.108A>G (p.Ala36=)
NM_006158.5(NEFL):c.114A>T (p.Ser38=)
NM_006158.5(NEFL):c.1169+20G>T
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.1236C>T (p.Tyr412=)
NM_006158.5(NEFL):c.1251G>A (p.Gln417=) rs2117251802
NM_006158.5(NEFL):c.1287C>T (p.Thr429=) rs1554497362
NM_006158.5(NEFL):c.1320G>T (p.Pro440=) rs541109299
NM_006158.5(NEFL):c.1365G>A (p.Glu455=)
NM_006158.5(NEFL):c.1428C>G (p.Ala476=) rs1455394179
NM_006158.5(NEFL):c.1458C>G (p.Ala486=) rs61726486
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.1608A>G (p.Glu536=) rs2117250636
NM_006158.5(NEFL):c.1611A>G (p.Gln537=) rs1802987929
NM_006158.5(NEFL):c.210C>T (p.Asn70=)
NM_006158.5(NEFL):c.288C>T (p.Asp96=)
NM_006158.5(NEFL):c.321C>G (p.Arg107=) rs1198042093
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.390C>T (p.Ser130=) rs1430281104
NM_006158.5(NEFL):c.420G>A (p.Glu140=) rs1586128713
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.54C>T (p.Tyr18=)
NM_006158.5(NEFL):c.558G>A (p.Glu186=) rs554279852
NM_006158.5(NEFL):c.582A>C (p.Glu194Asp) rs532240912
NM_006158.5(NEFL):c.594C>G (p.Gly198=)
NM_006158.5(NEFL):c.609G>T (p.Ala203=)
NM_006158.5(NEFL):c.615T>C (p.Ala205=)
NM_006158.5(NEFL):c.621C>G (p.Ala207=) rs763294014
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.66C>T (p.Pro22=)
NM_006158.5(NEFL):c.678G>T (p.Val226=) rs1803042195
NM_006158.5(NEFL):c.729C>A (p.Ile243=) rs1586128322
NM_006158.5(NEFL):c.738G>A (p.Glu246=)
NM_006158.5(NEFL):c.78C>A (p.Ile26=)
NM_006158.5(NEFL):c.821A>G (p.Gln274Arg) rs756114856
NM_006158.5(NEFL):c.834A>G (p.Glu278=) rs752136885
NM_006158.5(NEFL):c.864C>A (p.Thr288=)
NM_006158.5(NEFL):c.86T>C (p.Val29Ala) rs372748927
NM_006158.5(NEFL):c.876C>T (p.Ala292=) rs2117254402
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.957C>A (p.Ile319=) rs758135536
NM_006158.5(NEFL):c.984G>T (p.Ala328=) rs759524661
NM_006158.5(NEFL):c.993G>A (p.Lys331=)

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