ClinVar Miner

List of variants reported as uncertain significance for Ectodermal dysplasia and immunodeficiency 2

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Total variants: 133
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HGVS dbSNP gnomAD frequency
NM_020529.3(NFKBIA):c.*366G>A rs552418731 0.00077
NM_020529.3(NFKBIA):c.*252T>G rs940642653 0.00021
NM_020529.3(NFKBIA):c.337-20G>A rs371120371 0.00021
NM_020529.3(NFKBIA):c.179C>T (p.Pro60Leu) rs371482940 0.00005
NM_020529.3(NFKBIA):c.841C>A (p.Pro281Thr) rs756020078 0.00004
NM_020529.3(NFKBIA):c.228-3C>T rs374251732 0.00003
NM_020529.3(NFKBIA):c.337-3T>C rs756930611 0.00003
NM_020529.3(NFKBIA):c.506C>T (p.Thr169Ile) rs151228045 0.00003
NM_020529.3(NFKBIA):c.547+10C>T rs201614038 0.00003
NM_020529.3(NFKBIA):c.636+4G>A rs754988222 0.00003
NM_020529.3(NFKBIA):c.904G>A (p.Glu302Lys) rs116801398 0.00003
NM_020529.3(NFKBIA):c.111G>A (p.Met37Ile) rs764415243 0.00002
NM_020529.3(NFKBIA):c.310C>T (p.Leu104Phe) rs751353414 0.00002
NM_020529.3(NFKBIA):c.117C>G (p.Asp39Glu) rs753085459 0.00001
NM_020529.3(NFKBIA):c.11C>T (p.Ala4Val) rs1394403932 0.00001
NM_020529.3(NFKBIA):c.16G>A (p.Glu6Lys) rs923187160 0.00001
NM_020529.3(NFKBIA):c.184G>A (p.Gly62Ser) rs771568277 0.00001
NM_020529.3(NFKBIA):c.188C>T (p.Ser63Leu) rs376762724 0.00001
NM_020529.3(NFKBIA):c.194C>T (p.Pro65Leu) rs756648390 0.00001
NM_020529.3(NFKBIA):c.19C>T (p.Arg7Cys) rs1292103605 0.00001
NM_020529.3(NFKBIA):c.283C>T (p.Arg95Cys) rs779105881 0.00001
NM_020529.3(NFKBIA):c.299A>G (p.Asp100Gly) rs753891384 0.00001
NM_020529.3(NFKBIA):c.320A>G (p.Gln107Arg) rs1430171440 0.00001
NM_020529.3(NFKBIA):c.325A>C (p.Asn109His) rs772897174 0.00001
NM_020529.3(NFKBIA):c.336+4C>T rs371012003 0.00001
NM_020529.3(NFKBIA):c.341C>T (p.Pro114Leu) rs760056320 0.00001
NM_020529.3(NFKBIA):c.379G>A (p.Ala127Thr) rs377380656 0.00001
NM_020529.3(NFKBIA):c.419G>A (p.Arg140Gln) rs771984394 0.00001
NM_020529.3(NFKBIA):c.428G>A (p.Arg143Gln) rs757053022 0.00001
NM_020529.3(NFKBIA):c.437C>T (p.Thr146Ile) rs753691609 0.00001
NM_020529.3(NFKBIA):c.44G>A (p.Gly15Asp) rs768610997 0.00001
NM_020529.3(NFKBIA):c.461A>G (p.Gln154Arg) rs1420428996 0.00001
NM_020529.3(NFKBIA):c.477C>A (p.Ser159Arg) rs199877737 0.00001
NM_020529.3(NFKBIA):c.525C>G (p.Ile175Met) rs777640654 0.00001
NM_020529.3(NFKBIA):c.653G>A (p.Arg218Gln) rs1205585858 0.00001
NM_020529.3(NFKBIA):c.682C>G (p.Gln228Glu) rs1227706340 0.00001
NM_020529.3(NFKBIA):c.742T>C (p.Tyr248His) rs2052739616 0.00001
NM_020529.3(NFKBIA):c.74T>C (p.Leu25Pro) rs758102701 0.00001
NM_020529.3(NFKBIA):c.752A>G (p.Tyr251Cys) rs1185622942 0.00001
NM_020529.3(NFKBIA):c.779G>A (p.Arg260His) rs781464425 0.00001
NM_020529.3(NFKBIA):c.790C>T (p.Arg264Trp) rs747273949 0.00001
NM_020529.3(NFKBIA):c.826A>G (p.Asn276Asp) rs1347383782 0.00001
NM_020529.3(NFKBIA):c.853G>A (p.Asp285Asn) rs1448842981 0.00001
NM_020529.3(NFKBIA):c.882G>T (p.Glu294Asp) rs2052738424 0.00001
NM_020529.3(NFKBIA):c.887C>T (p.Thr296Met) rs201191831 0.00001
NM_020529.3(NFKBIA):c.944T>G (p.Leu315Arg) rs761313156 0.00001
NM_020529.3(NFKBIA):c.947C>T (p.Thr316Met) rs775963900 0.00001
NC_000014.8:g.(?_35182071)_(35873850_?)del
NM_020529.3(NFKBIA):c.*102T>G rs2052729719
NM_020529.3(NFKBIA):c.*302A>C rs886050475
NM_020529.3(NFKBIA):c.-42G>T rs1203824461
NM_020529.3(NFKBIA):c.-73C>A rs1372613093
NM_020529.3(NFKBIA):c.-80C>T rs886050476
NM_020529.3(NFKBIA):c.110T>A (p.Met37Lys) rs1566591073
NM_020529.3(NFKBIA):c.110T>G (p.Met37Arg) rs1566591073
NM_020529.3(NFKBIA):c.118G>A (p.Glu40Lys) rs2138834181
NM_020529.3(NFKBIA):c.131A>G (p.Gln44Arg) rs2052768045
NM_020529.3(NFKBIA):c.135G>C (p.Met45Ile)
NM_020529.3(NFKBIA):c.158G>A (p.Arg53His) rs761810172
NM_020529.3(NFKBIA):c.165G>C (p.Glu55Asp) rs2052767503
NM_020529.3(NFKBIA):c.185G>A (p.Gly62Asp) rs1698098775
NM_020529.3(NFKBIA):c.193C>G (p.Pro65Ala) rs778206898
NM_020529.3(NFKBIA):c.193C>T (p.Pro65Ser)
NM_020529.3(NFKBIA):c.197G>C (p.Trp66Ser)
NM_020529.3(NFKBIA):c.208C>G (p.Leu70Val) rs755146648
NM_020529.3(NFKBIA):c.209T>C (p.Leu70Pro) rs2052766731
NM_020529.3(NFKBIA):c.220G>C (p.Gly74Arg) rs766345843
NM_020529.3(NFKBIA):c.227+5G>A rs2502188130
NM_020529.3(NFKBIA):c.247A>G (p.Ile83Val) rs1165420329
NM_020529.3(NFKBIA):c.252T>G (p.His84Gln) rs2502185825
NM_020529.3(NFKBIA):c.256G>A (p.Glu86Lys) rs1388058525
NM_020529.3(NFKBIA):c.257A>C (p.Glu86Ala)
NM_020529.3(NFKBIA):c.283C>G (p.Arg95Gly) rs779105881
NM_020529.3(NFKBIA):c.284G>C (p.Arg95Pro) rs1340746414
NM_020529.3(NFKBIA):c.287A>G (p.Gln96Arg) rs2138832812
NM_020529.3(NFKBIA):c.301C>A (p.Leu101Met) rs767452313
NM_020529.3(NFKBIA):c.320A>C (p.Gln107Pro)
NM_020529.3(NFKBIA):c.32G>A (p.Trp11Ter) rs121913664
NM_020529.3(NFKBIA):c.340C>G (p.Pro114Ala) rs763639524
NM_020529.3(NFKBIA):c.366C>G (p.Asn122Lys) rs2502184447
NM_020529.3(NFKBIA):c.373G>C (p.Glu125Gln) rs2502184406
NM_020529.3(NFKBIA):c.392T>G (p.Leu131Arg) rs1490490081
NM_020529.3(NFKBIA):c.410del (p.Pro137fs) rs2502184287
NM_020529.3(NFKBIA):c.416T>C (p.Leu139Pro) rs2138832043
NM_020529.3(NFKBIA):c.416T>G (p.Leu139Arg) rs2138832043
NM_020529.3(NFKBIA):c.419G>C (p.Arg140Pro) rs771984394
NM_020529.3(NFKBIA):c.439C>A (p.Pro147Thr) rs1435064505
NM_020529.3(NFKBIA):c.452C>T (p.Ala151Val)
NM_020529.3(NFKBIA):c.469C>G (p.Leu157Val)
NM_020529.3(NFKBIA):c.46C>G (p.Pro16Ala) rs1439671395
NM_020529.3(NFKBIA):c.473C>G (p.Ala158Gly) rs1199743715
NM_020529.3(NFKBIA):c.473C>T (p.Ala158Val) rs1199743715
NM_020529.3(NFKBIA):c.478G>C (p.Val160Leu) rs2052747640
NM_020529.3(NFKBIA):c.499T>C (p.Cys167Arg) rs1218249468
NM_020529.3(NFKBIA):c.508C>T (p.Pro170Ser)
NM_020529.3(NFKBIA):c.50G>A (p.Arg17His) rs1347828578
NM_020529.3(NFKBIA):c.527T>C (p.Leu176Pro) rs2502183678
NM_020529.3(NFKBIA):c.52G>A (p.Asp18Asn) rs746636446
NM_020529.3(NFKBIA):c.536C>T (p.Thr179Ile) rs1233242667
NM_020529.3(NFKBIA):c.55G>A (p.Gly19Arg) rs2138834333
NM_020529.3(NFKBIA):c.569C>T (p.Ala190Val) rs762771956
NM_020529.3(NFKBIA):c.572C>G (p.Ser191Cys) rs2138831210
NM_020529.3(NFKBIA):c.572C>T (p.Ser191Phe) rs2138831210
NM_020529.3(NFKBIA):c.574A>G (p.Ile192Val)
NM_020529.3(NFKBIA):c.581G>A (p.Gly194Asp) rs148656104
NM_020529.3(NFKBIA):c.584A>G (p.Tyr195Cys) rs780815318
NM_020529.3(NFKBIA):c.592A>G (p.Ile198Val) rs2502182510
NM_020529.3(NFKBIA):c.595G>A (p.Val199Met) rs779399614
NM_020529.3(NFKBIA):c.595G>C (p.Val199Leu) rs779399614
NM_020529.3(NFKBIA):c.636+5G>A rs1290714319
NM_020529.3(NFKBIA):c.656C>T (p.Thr219Ile)
NM_020529.3(NFKBIA):c.688C>G (p.Pro230Ala) rs894738851
NM_020529.3(NFKBIA):c.693C>A (p.Asp231Glu) rs757228861
NM_020529.3(NFKBIA):c.714G>C (p.Lys238Asn)
NM_020529.3(NFKBIA):c.761A>G (p.Tyr254Cys) rs928841865
NM_020529.3(NFKBIA):c.77T>G (p.Leu26Arg) rs1222307946
NM_020529.3(NFKBIA):c.784A>G (p.Ser262Gly) rs2138830573
NM_020529.3(NFKBIA):c.784A>T (p.Ser262Cys) rs2138830573
NM_020529.3(NFKBIA):c.832C>A (p.Gln278Lys)
NM_020529.3(NFKBIA):c.838C>G (p.Leu280Val) rs2138830464
NM_020529.3(NFKBIA):c.842C>T (p.Pro281Leu) rs2502181270
NM_020529.3(NFKBIA):c.848G>A (p.Ser283Asn) rs759161424
NM_020529.3(NFKBIA):c.866_906+4dup rs1594426262
NM_020529.3(NFKBIA):c.86G>A (p.Arg29His) rs754412949
NM_020529.3(NFKBIA):c.879_887del (p.295_297FTE[1]) rs1566589938
NM_020529.3(NFKBIA):c.881A>G (p.Glu294Gly) rs2138830370
NM_020529.3(NFKBIA):c.888_896del (p.295FTE[1]) rs1428421661
NM_020529.3(NFKBIA):c.899A>C (p.Glu300Ala) rs2052738094
NM_020529.3(NFKBIA):c.911C>G (p.Pro304Arg) rs779867290
NM_020529.3(NFKBIA):c.914A>T (p.Tyr305Phe)
NM_020529.3(NFKBIA):c.917A>G (p.Asp306Gly) rs2502179852
NM_020529.3(NFKBIA):c.925G>A (p.Val309Met)
NM_020529.3(NFKBIA):c.935G>A (p.Gly312Asp)

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