ClinVar Miner

List of variants in gene NEFL studied for not specified

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Total variants: 33
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HGVS dbSNP gnomAD frequency
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.1275C>T (p.Gly425=) rs114329068 0.00395
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.1044+20A>T rs373892107 0.00062
NM_006158.5(NEFL):c.1610A>G (p.Gln537Arg) rs377121179 0.00058
NM_006158.5(NEFL):c.227T>C (p.Val76Ala) rs58907919 0.00013
NM_006158.5(NEFL):c.423G>A (p.Gln141=) rs59161567 0.00012
NM_006158.5(NEFL):c.628G>C (p.Glu210Gln) rs199422214 0.00009
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.-37A>C rs764769970 0.00004
NM_006158.5(NEFL):c.1011G>A (p.Glu337=) rs761206907 0.00002
NM_006158.5(NEFL):c.279G>A (p.Gln93=) rs60737254 0.00002
NM_006158.5(NEFL):c.716A>G (p.Gln239Arg) rs1170226456 0.00002
NM_006158.5(NEFL):c.1492G>A (p.Ala498Thr) rs151208148 0.00001
NM_006158.5(NEFL):c.720C>T (p.Tyr240=) rs58975336 0.00001
NM_006158.5(NEFL):c.1284G>A (p.Gln428=) rs931901985
NM_006158.5(NEFL):c.1324TAC[1] (p.Tyr443del) rs1554497354
NM_006158.5(NEFL):c.1392G>A (p.Glu464=) rs1554497334
NM_006158.5(NEFL):c.1408_1413= (p.Pro470_Pro471=)
NM_006158.5(NEFL):c.1471_1472delinsTT (p.Ala491Leu) rs1554497315
NM_006158.5(NEFL):c.1482G>A (p.Glu494=) rs1554497313
NM_006158.5(NEFL):c.1573GAG[2] (p.Glu527del) rs3832558
NM_006158.5(NEFL):c.192G>A (p.Leu64=) rs1586129038
NM_006158.5(NEFL):c.572G>A (p.Arg191Gln) rs755170407
NM_006158.5(NEFL):c.793T>G (p.Tyr265Asp) rs1554497573
NM_006158.5(NEFL):c.968G>C (p.Arg323Pro) rs864622499

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