ClinVar Miner

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

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Total variants: 57
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HGVS dbSNP gnomAD frequency
NM_006158.5(NEFL):c.1414del (p.Ser472fs) rs780764641 0.01449
NM_006158.5(NEFL):c.1407G>A (p.Glu469=) rs543609297 0.00777
NM_006158.5(NEFL):c.667C>T (p.Leu223=) rs60156239 0.00494
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.227T>C (p.Val76Ala) rs58907919 0.00013
NM_006158.5(NEFL):c.338A>C (p.Gln113Pro) rs758191113 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.1276G>A (p.Gly426Ser) rs372245403 0.00010
NM_006158.5(NEFL):c.1212C>T (p.Ser404=) rs60547413 0.00008
NM_006158.5(NEFL):c.*2C>A rs754312148 0.00002
NM_006158.5(NEFL):c.743A>C (p.Asp248Ala) rs927119938 0.00002
NM_006158.5(NEFL):c.1006C>G (p.Leu336Val) rs551896980 0.00001
NM_006158.5(NEFL):c.1037C>A (p.Ala346Asp) rs368370291 0.00001
NM_006158.5(NEFL):c.1462G>A (p.Glu488Lys) rs773570365 0.00001
NM_006158.5(NEFL):c.19G>A (p.Glu7Lys) rs57848467 0.00001
NM_006158.5(NEFL):c.235A>G (p.Ile79Val) rs765260132 0.00001
NM_006158.5(NEFL):c.612C>T (p.Leu204=) rs370031604 0.00001
NM_006158.5(NEFL):c.637A>G (p.Ile213Val) rs538481538 0.00001
NM_006158.5(NEFL):c.967C>T (p.Arg323Trp) rs764562926 0.00001
NM_006158.5(NEFL):c.1007T>C (p.Leu336Pro) rs587777881
NM_006158.5(NEFL):c.1008GGA[1] (p.Glu337del) rs1803033503
NM_006158.5(NEFL):c.1039_1040del (p.Met347fs) rs1803032912
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.1193C>A (p.Thr398Asn) rs1586126731
NM_006158.5(NEFL):c.1196G>C (p.Arg399Pro) rs372997416
NM_006158.5(NEFL):c.1236C>A (p.Tyr412Ter) rs746267609
NM_006158.5(NEFL):c.1245C>G (p.Ser415Arg) rs1803003337
NM_006158.5(NEFL):c.1261C>T (p.Arg421Ter) rs191346286
NM_006158.5(NEFL):c.1319C>T (p.Pro440Leu) rs587777882
NM_006158.5(NEFL):c.1330A>C (p.Thr444Pro) rs201455550
NM_006158.5(NEFL):c.1413del (p.Ser472fs) rs11300136
NM_006158.5(NEFL):c.1611A>G (p.Gln537=) rs1802987929
NM_006158.5(NEFL):c.22C>A (p.Pro8Thr) rs886043551
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.280C>T (p.Leu94Phe) rs1586128912
NM_006158.5(NEFL):c.293A>G (p.Asn98Ser) rs58982919
NM_006158.5(NEFL):c.304G>T (p.Ala102Ser) rs1323026981
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.420G>A (p.Glu140=) rs1586128713
NM_006158.5(NEFL):c.44A>C (p.Lys15Thr) rs776351925
NM_006158.5(NEFL):c.48_60dup (p.Thr21fs) rs58640772
NM_006158.5(NEFL):c.509C>G (p.Thr170Ser) rs541360328
NM_006158.5(NEFL):c.541G>T (p.Glu181Ter) rs774653437
NM_006158.5(NEFL):c.582A>C (p.Glu194Asp) rs532240912
NM_006158.5(NEFL):c.630G>A (p.Glu210=) rs1803043048
NM_006158.5(NEFL):c.638T>C (p.Ile213Thr) rs2117254829
NM_006158.5(NEFL):c.678G>T (p.Val226=) rs1803042195
NM_006158.5(NEFL):c.794A>G (p.Tyr265Cys) rs587777880
NM_006158.5(NEFL):c.86T>C (p.Val29Ala) rs372748927
NM_006158.5(NEFL):c.993_994insT (p.Gln332fs) rs1803034177
NM_006158.5(NEFL):c.999_1004delinsTGTCG (p.Gln334fs) rs1803033886

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