ClinVar Miner

List of variants in gene NEFL studied for Charcot-Marie-Tooth disease type 2

Included ClinVar conditions (60):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 84
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HGVS dbSNP
NC_000008.10:g.(?_24810303)_(24814049_?)dup
NC_000008.10:g.(?_24810313)_(24814039_?)dup
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.1016A>C (p.Lys339Thr)
NM_006158.4(NEFL):c.1032C>G (p.Ile344Met)
NM_006158.4(NEFL):c.1044+5G>C rs779620367
NM_006158.4(NEFL):c.1044G>A (p.Gln348=)
NM_006158.4(NEFL):c.1069G>A (p.Glu357Lys) rs1060503693
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)
NM_006158.4(NEFL):c.1213G>A (p.Val405Met)
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.1292C>G (p.Ser431Cys)
NM_006158.4(NEFL):c.1302G>A (p.Met434Ile)
NM_006158.4(NEFL):c.1324_1326TAC[1] (p.Tyr443del) rs1554497354
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.1429G>A (p.Glu477Lys) rs749163947
NM_006158.4(NEFL):c.1438_1440delinsAGA (p.Glu480Arg)
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)
NM_006158.4(NEFL):c.1534G>T (p.Gly512Cys)
NM_006158.4(NEFL):c.1540G>C (p.Gly514Arg)
NM_006158.4(NEFL):c.1610A>G (p.Gln537Arg) rs377121179
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.22C>T (p.Pro8Ser) rs886043551
NM_006158.4(NEFL):c.22_23delCCinsAG (p.Pro8Arg) rs60261494
NM_006158.4(NEFL):c.23C>G (p.Pro8Arg) 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.321C>G (p.Arg107=) rs1198042093
NM_006158.4(NEFL):c.352C>T (p.Leu118=) rs1254381816
NM_006158.4(NEFL):c.415T>A (p.Tyr139Asn)
NM_006158.4(NEFL):c.418G>A (p.Glu140Lys) rs121913663
NM_006158.4(NEFL):c.443T>A (p.Leu148Gln)
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.530G>T (p.Arg177Leu) rs1450236716
NM_006158.4(NEFL):c.532T>A (p.Tyr178Asn)
NM_006158.4(NEFL):c.579G>A (p.Met193Ile) rs367943135
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)
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.637A>G (p.Ile213Val)
NM_006158.4(NEFL):c.64C>T (p.Pro22Ser) rs28928910
NM_006158.4(NEFL):c.65C>A (p.Pro22His) rs267607538
NM_006158.4(NEFL):c.668T>C (p.Leu223Pro) rs1563251953
NM_006158.4(NEFL):c.677T>C (p.Val226Ala)
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)
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.78_81delinsTTCT (p.Ile26_Ser27=) rs1060504999
NM_006158.4(NEFL):c.793T>G (p.Tyr265Asp) rs1554497573
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)
NM_006158.4(NEFL):c.821A>G (p.Gln274Arg) rs756114856
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)
NM_006158.4(NEFL):c.995A>C (p.Gln332Pro) rs59443585

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