ClinVar Miner

List of variants in gene NEFL reported as benign

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Gene type:
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Total variants: 40
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HGVS dbSNP gnomAD frequency
NM_006158.5(NEFL):c.*1256G>A rs2979704 0.77789
NM_006158.3(NEFL):c.-374A>G rs2979687 0.59042
NM_006158.5(NEFL):c.*687G>C rs2976439 0.53745
NM_006158.4(NEFL):c.-176C>A rs2979688 0.53692
NM_006158.5(NEFL):c.1044+39G>C rs6982740 0.07439
NM_006158.5(NEFL):c.*426G>A rs73546943 0.06709
NM_006158.5(NEFL):c.1407G>A (p.Glu469=) rs543609297 0.00777
NM_006158.5(NEFL):c.*1344G>A rs79034217 0.00743
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.*101A>G rs34505194 0.00356
NM_006158.5(NEFL):c.*244A>G rs78869168 0.00290
NM_006158.5(NEFL):c.584C>T (p.Ala195Val) rs185200977 0.00274
NM_006158.5(NEFL):c.*82T>A rs148654058 0.00222
NM_006158.5(NEFL):c.855C>T (p.Thr285=) rs1065083 0.00221
NM_006158.5(NEFL):c.1026C>G (p.Ala342=) rs35596950 0.00189
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.*1293A>G rs573350915 0.00043
NM_006158.5(NEFL):c.*878A>G rs189452316 0.00034
NM_006158.5(NEFL):c.*1806T>C rs192937928 0.00021
NM_006158.5(NEFL):c.1329C>T (p.Tyr443=) rs140532785 0.00016
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.1560C>A (p.Thr520=) rs267607677 0.00010
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.720C>T (p.Tyr240=) rs58975336 0.00001
NM_006158.4(NEFL):c.-183C>G rs62503766
NM_006158.5(NEFL):c.*235A>T rs1059111
NM_006158.5(NEFL):c.*486T>G rs562682645
NM_006158.5(NEFL):c.1408_1413= (p.Pro470_Pro471=)
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.289C>T (p.Leu97Phe) rs587777888
NM_006158.5(NEFL):c.338_339delinsCC (p.Gln113Pro) rs1554497641
NM_006158.5(NEFL):c.507G>A (p.Glu169=) rs750417735
NM_006158.5(NEFL):c.582A>C (p.Glu194Asp) rs532240912

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