ClinVar Miner

List of variants in gene NEFL reported as uncertain significance for not provided

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Total variants: 60
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HGVS dbSNP gnomAD frequency
NM_006158.5(NEFL):c.639C>G (p.Ile213Met) rs62636522 0.00065
NM_006158.5(NEFL):c.1610A>G (p.Gln537Arg) rs377121179 0.00058
NM_006158.5(NEFL):c.579G>A (p.Met193Ile) rs367943135 0.00011
NM_006158.5(NEFL):c.628G>C (p.Glu210Gln) rs199422214 0.00009
NM_006158.5(NEFL):c.1310G>A (p.Arg437His) rs369991241 0.00004
NM_006158.5(NEFL):c.1585A>G (p.Lys529Glu) rs773979111 0.00003
NM_006158.5(NEFL):c.182C>T (p.Ser61Phe) rs1368855205 0.00003
NM_006158.5(NEFL):c.1029C>G (p.Asp343Glu) rs781084022 0.00001
NM_006158.5(NEFL):c.1429G>A (p.Glu477Lys) rs749163947 0.00001
NM_006158.5(NEFL):c.146C>T (p.Ser49Phe) rs779764890 0.00001
NM_006158.5(NEFL):c.1532G>A (p.Gly511Glu) rs377758736 0.00001
NM_006158.5(NEFL):c.1588G>T (p.Val530Phe) rs749130357 0.00001
NM_006158.5(NEFL):c.202C>G (p.Leu68Val) rs1328701916 0.00001
NM_006158.5(NEFL):c.217C>G (p.Leu73Val) rs755889503 0.00001
NM_006158.5(NEFL):c.490C>G (p.Arg164Gly) rs752771636 0.00001
NM_006158.5(NEFL):c.648G>C (p.Leu216Phe) rs35575466 0.00001
NM_006158.5(NEFL):c.721G>A (p.Ala241Thr) rs1415523458 0.00001
NM_006158.5(NEFL):c.*6del rs754981398
NM_006158.5(NEFL):c.1175T>A (p.Leu392His) rs1554497393
NM_006158.5(NEFL):c.1196G>C (p.Arg399Pro) rs372997416
NM_006158.5(NEFL):c.1240C>A (p.Gln414Lys)
NM_006158.5(NEFL):c.1262G>A (p.Arg421Gln)
NM_006158.5(NEFL):c.1265C>T (p.Ser422Phe) rs1803002899
NM_006158.5(NEFL):c.1267G>C (p.Ala423Pro) rs1563251230
NM_006158.5(NEFL):c.1284G>C (p.Gln428His) rs931901985
NM_006158.5(NEFL):c.1373T>C (p.Ile458Thr) rs372034119
NM_006158.5(NEFL):c.137C>G (p.Pro46Arg)
NM_006158.5(NEFL):c.139G>T (p.Val47Leu)
NM_006158.5(NEFL):c.1438G>A (p.Glu480Lys)
NM_006158.5(NEFL):c.1482G>T (p.Glu494Asp) rs1554497313
NM_006158.5(NEFL):c.1502A>G (p.Glu501Gly) rs1802990111
NM_006158.5(NEFL):c.1554G>C (p.Glu518Asp) rs754666321
NM_006158.5(NEFL):c.1579G>A (p.Glu527Lys) rs1802988556
NM_006158.5(NEFL):c.194T>C (p.Met65Thr)
NM_006158.5(NEFL):c.197C>T (p.Pro66Leu) rs2117255738
NM_006158.5(NEFL):c.22C>A (p.Pro8Thr) rs886043551
NM_006158.5(NEFL):c.307A>T (p.Ser103Cys)
NM_006158.5(NEFL):c.311T>C (p.Phe104Ser)
NM_006158.5(NEFL):c.338_339delinsCC (p.Gln113Pro) rs1554497641
NM_006158.5(NEFL):c.353T>G (p.Leu118Arg) rs1554497639
NM_006158.5(NEFL):c.370G>A (p.Val124Met)
NM_006158.5(NEFL):c.398C>T (p.Ser133Phe)
NM_006158.5(NEFL):c.431G>A (p.Arg144His) rs867221125
NM_006158.5(NEFL):c.443T>A (p.Leu148Gln) rs1338365987
NM_006158.5(NEFL):c.460A>C (p.Thr154Pro) rs1803048937
NM_006158.5(NEFL):c.487G>C (p.Glu163Gln) rs876661155
NM_006158.5(NEFL):c.507G>C (p.Glu169Asp)
NM_006158.5(NEFL):c.509C>T (p.Thr170Ile) rs541360328
NM_006158.5(NEFL):c.520C>T (p.Leu174=) rs1180143355
NM_006158.5(NEFL):c.598G>T (p.Asp200Tyr) rs1312229375
NM_006158.5(NEFL):c.604G>A (p.Ala202Thr)
NM_006158.5(NEFL):c.616C>G (p.Arg206Gly) rs771763817
NM_006158.5(NEFL):c.634C>T (p.Arg212Cys)
NM_006158.5(NEFL):c.66C>T (p.Pro22=)
NM_006158.5(NEFL):c.726G>C (p.Gln242His)
NM_006158.5(NEFL):c.781A>G (p.Ile261Val) rs746088359
NM_006158.5(NEFL):c.793T>G (p.Tyr265Asp) rs1554497573
NM_006158.5(NEFL):c.796G>A (p.Glu266Lys) rs1411999109
NM_006158.5(NEFL):c.882C>G (p.Asn294Lys) rs946938553
NM_006158.5(NEFL):c.986T>C (p.Leu329Pro) rs876661290

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