ClinVar Miner

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

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Total variants: 61
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HGVS dbSNP
NM_006158.4(NEFL):c.1006C>G (p.Leu336Val) rs551896980
NM_006158.4(NEFL):c.1007T>C (p.Leu336Pro) rs587777881
NM_006158.4(NEFL):c.1179G>C (p.Leu393Phe) rs879253927
NM_006158.4(NEFL):c.1186G>A (p.Glu396Lys) rs62636503
NM_006158.4(NEFL):c.1212C>T (p.Ser404=) rs60547413
NM_006158.4(NEFL):c.1261C>T (p.Arg421Ter) rs191346286
NM_006158.4(NEFL):c.1319C>T (p.Pro440Leu) rs587777882
NM_006158.4(NEFL):c.1402G>A (p.Asp468Asn) rs57153321
NM_006158.4(NEFL):c.1462G>A (p.Glu488Lys) rs773570365
NM_006158.4(NEFL):c.19G>A (p.Glu7Lys) rs57848467
NM_006158.4(NEFL):c.227T>C (p.Val76Ala) rs58907919
NM_006158.4(NEFL):c.22C>A (p.Pro8Thr) rs886043551
NM_006158.4(NEFL):c.23C>A (p.Pro8Gln) rs61491953
NM_006158.4(NEFL):c.23C>G (p.Pro8Arg) rs61491953
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.338_339delinsCC (p.Gln113Pro) rs1554497641
NM_006158.4(NEFL):c.423G>A (p.Gln141=) rs59161567
NM_006158.4(NEFL):c.48_60dup (p.Thr21fs) rs58640772
NM_006158.4(NEFL):c.509C>G (p.Thr170Ser) rs541360328
NM_006158.4(NEFL):c.582A>C (p.Glu194Asp) rs532240912
NM_006158.4(NEFL):c.637A>G (p.Ile213Val) rs538481538
NM_006158.4(NEFL):c.639C>G (p.Ile213Met) rs62636522
NM_006158.4(NEFL):c.667C>T (p.Leu223=) rs60156239
NM_006158.4(NEFL):c.743A>C (p.Asp248Ala) rs927119938
NM_006158.4(NEFL):c.794A>G (p.Tyr265Cys) rs587777880
NM_006158.4(NEFL):c.855C>T (p.Thr285=) rs1065083
NM_006158.5(NEFL):c.*2C>A rs0
NM_006158.5(NEFL):c.1008_1010GGA[1] (p.Glu337del) rs0
NM_006158.5(NEFL):c.1037C>A (p.Ala346Asp) rs368370291
NM_006158.5(NEFL):c.1039_1040del (p.Met347fs) rs0
NM_006158.5(NEFL):c.1086G>A (p.Lys362=) rs0
NM_006158.5(NEFL):c.1123C>T (p.Leu375Phe) rs0
NM_006158.5(NEFL):c.1169+14G>A rs0
NM_006158.5(NEFL):c.1169+3G>A rs1209043497
NM_006158.5(NEFL):c.1193C>A (p.Thr398Asn) rs0
NM_006158.5(NEFL):c.1196G>C (p.Arg399Pro) rs0
NM_006158.5(NEFL):c.1236C>A (p.Tyr412Ter) rs746267609
NM_006158.5(NEFL):c.1245C>G (p.Ser415Arg) rs0
NM_006158.5(NEFL):c.1276G>A (p.Gly426Ser) rs0
NM_006158.5(NEFL):c.1330A>C (p.Thr444Pro) rs201455550
NM_006158.5(NEFL):c.1407G>A (p.Glu469=) rs543609297
NM_006158.5(NEFL):c.1413del (p.Ser472fs) rs11300136
NM_006158.5(NEFL):c.1414del (p.Ser472fs) rs780764641
NM_006158.5(NEFL):c.1611A>G (p.Gln537=) rs0
NM_006158.5(NEFL):c.235A>G (p.Ile79Val) rs0
NM_006158.5(NEFL):c.280C>T (p.Leu94Phe) rs1586128912
NM_006158.5(NEFL):c.304G>T (p.Ala102Ser) rs0
NM_006158.5(NEFL):c.338A>C (p.Gln113Pro) rs0
NM_006158.5(NEFL):c.339G>C (p.Gln113His) rs0
NM_006158.5(NEFL):c.420G>A (p.Glu140=) rs1586128713
NM_006158.5(NEFL):c.44A>C (p.Lys15Thr) rs0
NM_006158.5(NEFL):c.507G>A (p.Glu169=) rs0
NM_006158.5(NEFL):c.541G>T (p.Glu181Ter) rs0
NM_006158.5(NEFL):c.612C>T (p.Leu204=) rs0
NM_006158.5(NEFL):c.630G>A (p.Glu210=) rs0
NM_006158.5(NEFL):c.678G>T (p.Val226=) rs0
NM_006158.5(NEFL):c.86T>C (p.Val29Ala) rs0
NM_006158.5(NEFL):c.967C>T (p.Arg323Trp) rs0
NM_006158.5(NEFL):c.993_994insT (p.Gln332fs) rs0
NM_006158.5(NEFL):c.999_1004delinsTGTCG (p.Gln334fs) rs0

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