ClinVar Miner

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

Included ClinVar conditions (137):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 38
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HGVS dbSNP
NM_006158.4(NEFL):c.1006C>G (p.Leu336Val) rs551896980
NM_006158.4(NEFL):c.1011G>A (p.Glu337=) rs761206907
NM_006158.4(NEFL):c.1080C>T (p.Thr360=) rs760765563
NM_006158.4(NEFL):c.1212C>T (p.Ser404=) rs60547413
NM_006158.4(NEFL):c.1329C>T (p.Tyr443=) rs140532785
NM_006158.4(NEFL):c.1402G>A (p.Asp468Asn) rs57153321
NM_006158.4(NEFL):c.1458C>T (p.Ala486=) rs61726486
NM_006158.4(NEFL):c.1461G>A (p.Glu487=) rs763418924
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.227T>C (p.Val76Ala) rs58907919
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.352C>T (p.Leu118=) rs1254381816
NM_006158.4(NEFL):c.423G>A (p.Gln141=) rs59161567
NM_006158.4(NEFL):c.582A>C (p.Glu194Asp) rs532240912
NM_006158.4(NEFL):c.584C>T (p.Ala195Val) rs185200977
NM_006158.4(NEFL):c.621C>G (p.Ala207=) rs763294014
NM_006158.4(NEFL):c.639C>G (p.Ile213Met) rs62636522
NM_006158.4(NEFL):c.780C>T (p.Asp260=) rs878854817
NM_006158.4(NEFL):c.78_81delinsTTCT (p.Ile26_Ser27=) rs1060504999
NM_006158.4(NEFL):c.855C>T (p.Thr285=) rs1065083
NM_006158.4(NEFL):c.984G>T (p.Ala328=) rs759524661
NM_006158.5(NEFL):c.*436T>G
NM_006158.5(NEFL):c.1086G>A (p.Lys362=)
NM_006158.5(NEFL):c.1169+14G>A
NM_006158.5(NEFL):c.1315T>A (p.Phe439Ile)
NM_006158.5(NEFL):c.1408C>T (p.Pro470Ser)
NM_006158.5(NEFL):c.1611A>G (p.Gln537=)
NM_006158.5(NEFL):c.30C>T (p.Tyr10=) rs1484620251
NM_006158.5(NEFL):c.339G>C (p.Gln113His)
NM_006158.5(NEFL):c.360C>T (p.Ala120=) rs368829273
NM_006158.5(NEFL):c.420G>A (p.Glu140=) rs1586128713
NM_006158.5(NEFL):c.558G>A (p.Glu186=)
NM_006158.5(NEFL):c.612C>T (p.Leu204=)
NM_006158.5(NEFL):c.630G>A (p.Glu210=)
NM_006158.5(NEFL):c.678G>T (p.Val226=)
NM_006158.5(NEFL):c.86T>C (p.Val29Ala)

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