ClinVar Miner

List of variants studied for Ectodermal dysplasia and immunodeficiency 2 by Labcorp Genetics (formerly Invitae), Labcorp

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ClinVar version:
Total variants: 285
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HGVS dbSNP gnomAD frequency
NM_020529.3(NFKBIA):c.*126G>A rs696 0.44653
NC_000014.9:g.35405593G>A rs2233406 0.26309
NC_000014.9:g.35405648T>C rs3138053 0.26235
NM_020529.3(NFKBIA):c.81C>T (p.Asp27=) rs1957106 0.24766
NC_000014.9:g.35405064G>A rs2233409 0.19281
NM_020529.3(NFKBIA):c.306C>T (p.Ala102=) rs1050851 0.15413
NM_020529.3(NFKBIA):c.636+17C>T rs2233419 0.15084
NM_020529.3(NFKBIA):c.243C>T (p.Ala81=) rs2233412 0.00830
NM_020529.3(NFKBIA):c.548-3C>T rs2233418 0.00626
NM_020529.3(NFKBIA):c.581G>C (p.Gly194Ala) rs148656104 0.00287
NM_020529.3(NFKBIA):c.791G>A (p.Arg264Gln) rs149917774 0.00120
NM_020529.3(NFKBIA):c.227+16C>T rs539047415 0.00093
NM_020529.3(NFKBIA):c.903C>T (p.Asp301=) rs146132589 0.00052
NM_020529.3(NFKBIA):c.78G>A (p.Leu26=) rs8192285 0.00046
NM_020529.3(NFKBIA):c.554C>T (p.Thr185Met) rs142195196 0.00036
NM_020529.3(NFKBIA):c.336+16G>C rs2233414 0.00030
NM_020529.3(NFKBIA):c.409C>T (p.Pro137Ser) rs147627228 0.00023
NM_020529.3(NFKBIA):c.337-20G>A rs371120371 0.00021
NM_020529.3(NFKBIA):c.906+20C>T rs368801300 0.00013
NM_020529.3(NFKBIA):c.156C>A (p.Ile52=) rs369801548 0.00006
NM_020529.3(NFKBIA):c.186C>T (p.Gly62=) rs143798499 0.00006
NM_020529.3(NFKBIA):c.368A>G (p.Gln123Arg) rs142422402 0.00006
NM_020529.3(NFKBIA):c.501C>T (p.Cys167=) rs200219960 0.00006
NM_020529.3(NFKBIA):c.941G>A (p.Arg314His) rs142970414 0.00006
NM_020529.3(NFKBIA):c.179C>T (p.Pro60Leu) rs371482940 0.00005
NM_020529.3(NFKBIA):c.441C>T (p.Pro147=) rs375015401 0.00005
NM_020529.3(NFKBIA):c.547+18C>T rs373886679 0.00005
NM_020529.3(NFKBIA):c.720G>A (p.Gly240=) rs369802093 0.00005
NM_020529.3(NFKBIA):c.862A>G (p.Ser288Gly) rs774043011 0.00005
NM_020529.3(NFKBIA):c.841C>A (p.Pro281Thr) rs756020078 0.00004
NM_020529.3(NFKBIA):c.885_896del (p.Phe295_Thr299delinsLeu) rs751513869 0.00004
NM_020529.3(NFKBIA):c.888G>A (p.Thr296=) rs139180460 0.00004
NM_020529.3(NFKBIA):c.228-3C>T rs374251732 0.00003
NM_020529.3(NFKBIA):c.337-15C>T rs758334419 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.627C>T (p.Val209=) rs778172206 0.00003
NM_020529.3(NFKBIA):c.636+4G>A rs754988222 0.00003
NM_020529.3(NFKBIA):c.876G>A (p.Glu292=) rs772607545 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.27G>A (p.Gln9=) rs748171915 0.00002
NM_020529.3(NFKBIA):c.282C>T (p.Ile94=) rs2233413 0.00002
NM_020529.3(NFKBIA):c.310C>T (p.Leu104Phe) rs751353414 0.00002
NM_020529.3(NFKBIA):c.336+19C>T rs749325392 0.00002
NM_020529.3(NFKBIA):c.442C>T (p.Leu148=) rs371253544 0.00002
NM_020529.3(NFKBIA):c.549C>T (p.Gly183=) rs769491611 0.00002
NM_020529.3(NFKBIA):c.636+19C>T rs759618202 0.00002
NM_020529.3(NFKBIA):c.783A>C (p.Pro261=) rs376370831 0.00002
NM_020529.3(NFKBIA):c.861G>A (p.Glu287=) rs1262581372 0.00002
NM_020529.3(NFKBIA):c.907-9T>G rs781071814 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.145C>T (p.Leu49=) rs2052767879 0.00001
NM_020529.3(NFKBIA):c.151G>A (p.Glu51Lys) rs774277544 0.00001
NM_020529.3(NFKBIA):c.162C>T (p.Leu54=) rs138468321 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.192G>A (p.Glu64=) rs552899761 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.219C>T (p.Asp73=) rs371348054 0.00001
NM_020529.3(NFKBIA):c.221G>C (p.Gly74Ala) rs763076696 0.00001
NM_020529.3(NFKBIA):c.228-15C>T rs752721097 0.00001
NM_020529.3(NFKBIA):c.228-8C>G rs774048454 0.00001
NM_020529.3(NFKBIA):c.228-9T>C rs539761554 0.00001
NM_020529.3(NFKBIA):c.265C>T (p.Leu89=) rs201058640 0.00001
NM_020529.3(NFKBIA):c.283C>T (p.Arg95Cys) rs779105881 0.00001
NM_020529.3(NFKBIA):c.297A>C (p.Gly99=) rs757465465 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.326A>G (p.Asn109Ser) rs150221265 0.00001
NM_020529.3(NFKBIA):c.328C>T (p.Leu110=) rs776007975 0.00001
NM_020529.3(NFKBIA):c.336+11T>G rs1446919427 0.00001
NM_020529.3(NFKBIA):c.336+3G>A rs769147621 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.403T>G (p.Cys135Gly) rs2138832069 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.444A>C (p.Leu148=) rs1458803729 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.465C>T (p.Gly155=) rs763183892 0.00001
NM_020529.3(NFKBIA):c.477C>A (p.Ser159Arg) rs199877737 0.00001
NM_020529.3(NFKBIA):c.504C>T (p.Thr168=) rs768764676 0.00001
NM_020529.3(NFKBIA):c.510G>A (p.Pro170=) rs748972316 0.00001
NM_020529.3(NFKBIA):c.525C>G (p.Ile175Met) rs777640654 0.00001
NM_020529.3(NFKBIA):c.539A>C (p.Asn180Thr) rs376763952 0.00001
NM_020529.3(NFKBIA):c.548-17T>C rs2138831292 0.00001
NM_020529.3(NFKBIA):c.555G>A (p.Thr185=) rs1485922475 0.00001
NM_020529.3(NFKBIA):c.594C>T (p.Ile198=) rs746741230 0.00001
NM_020529.3(NFKBIA):c.63G>A (p.Lys21=) rs779802553 0.00001
NM_020529.3(NFKBIA):c.653G>A (p.Arg218Gln) rs1205585858 0.00001
NM_020529.3(NFKBIA):c.669C>T (p.Leu223=) rs143869405 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.753T>C (p.Tyr251=) rs773665307 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.810C>T (p.Gly270=) rs983972574 0.00001
NM_020529.3(NFKBIA):c.822A>G (p.Leu274=) rs750562815 0.00001
NM_020529.3(NFKBIA):c.826A>G (p.Asn276Asp) rs1347383782 0.00001
NM_020529.3(NFKBIA):c.847A>T (p.Ser283Cys) rs989569540 0.00001
NM_020529.3(NFKBIA):c.853G>A (p.Asp285Asn) rs1448842981 0.00001
NM_020529.3(NFKBIA):c.866A>G (p.Tyr289Cys) rs957688002 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.894C>T (p.Phe298=) rs777020702 0.00001
NM_020529.3(NFKBIA):c.906+19T>C rs1262400830 0.00001
NM_020529.3(NFKBIA):c.907-6T>C rs1439126277 0.00001
NM_020529.3(NFKBIA):c.936C>T (p.Gly312=) rs1250939805 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
NM_020529.3(NFKBIA):c.948G>A (p.Thr316=) rs772630322 0.00001
NC_000014.8:g.(?_35182071)_(35873850_?)del
NC_000014.9:g.35405317T>A rs2233407
NC_000014.9:g.35405505del rs17103265
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.129G>A (p.Glu43=) rs2052768071
NM_020529.3(NFKBIA):c.12G>A (p.Ala4=) rs769557443
NM_020529.3(NFKBIA):c.135G>C (p.Met45Ile)
NM_020529.3(NFKBIA):c.140A>G (p.Lys47Arg) rs1594427886
NM_020529.3(NFKBIA):c.147G>A (p.Leu49=)
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.186C>A (p.Gly62=) rs143798499
NM_020529.3(NFKBIA):c.18G>A (p.Glu6=) rs2502188944
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.216G>A (p.Glu72=) rs1025896637
NM_020529.3(NFKBIA):c.220G>C (p.Gly74Arg) rs766345843
NM_020529.3(NFKBIA):c.222G>A (p.Gly74=) rs764058016
NM_020529.3(NFKBIA):c.227+13G>A
NM_020529.3(NFKBIA):c.227+17C>T rs771971092
NM_020529.3(NFKBIA):c.227+19G>A
NM_020529.3(NFKBIA):c.227+20G>A
NM_020529.3(NFKBIA):c.227+5G>A rs2502188130
NM_020529.3(NFKBIA):c.228-15dup
NM_020529.3(NFKBIA):c.228-24_228-18dup
NM_020529.3(NFKBIA):c.228-4A>G
NM_020529.3(NFKBIA):c.228-8C>A rs774048454
NM_020529.3(NFKBIA):c.231C>T (p.Phe77=)
NM_020529.3(NFKBIA):c.240G>A (p.Leu80=) rs2138832918
NM_020529.3(NFKBIA):c.247A>G (p.Ile83Val) rs1165420329
NM_020529.3(NFKBIA):c.252T>C (p.His84=) rs2502185825
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.25C>T (p.Gln9Ter) rs886041411
NM_020529.3(NFKBIA):c.270C>T (p.Thr90=) rs780297815
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.2T>C (p.Met1Thr) rs2138834467
NM_020529.3(NFKBIA):c.301C>A (p.Leu101Met) rs767452313
NM_020529.3(NFKBIA):c.30G>A (p.Glu10=) rs2138834404
NM_020529.3(NFKBIA):c.315C>T (p.Asn105=)
NM_020529.3(NFKBIA):c.320A>C (p.Gln107Pro)
NM_020529.3(NFKBIA):c.32G>A (p.Trp11Ter) rs121913664
NM_020529.3(NFKBIA):c.336+12G>T rs2052753964
NM_020529.3(NFKBIA):c.336+18C>T rs757455969
NM_020529.3(NFKBIA):c.336+20C>A rs754935304
NM_020529.3(NFKBIA):c.336+20C>G
NM_020529.3(NFKBIA):c.336+7C>T rs775994528
NM_020529.3(NFKBIA):c.336+7del
NM_020529.3(NFKBIA):c.336+9C>T rs2502185521
NM_020529.3(NFKBIA):c.337-13C>G
NM_020529.3(NFKBIA):c.337-17C>G rs1367251506
NM_020529.3(NFKBIA):c.337-9C>A
NM_020529.3(NFKBIA):c.340C>G (p.Pro114Ala) rs763639524
NM_020529.3(NFKBIA):c.345C>G (p.Leu115=) rs2138832179
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.391C>T (p.Leu131=)
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.441C>G (p.Pro147=) rs375015401
NM_020529.3(NFKBIA):c.45C>T (p.Gly15=) rs2138834371
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.477C>T (p.Ser159=) rs199877737
NM_020529.3(NFKBIA):c.478G>C (p.Val160Leu) rs2052747640
NM_020529.3(NFKBIA):c.487C>T (p.Leu163=) rs2052747548
NM_020529.3(NFKBIA):c.499T>C (p.Cys167Arg) rs1218249468
NM_020529.3(NFKBIA):c.508C>T (p.Pro170Ser)
NM_020529.3(NFKBIA):c.509C>G (p.Pro170Arg) rs770933211
NM_020529.3(NFKBIA):c.509C>T (p.Pro170Leu) rs770933211
NM_020529.3(NFKBIA):c.50G>A (p.Arg17His) rs1347828578
NM_020529.3(NFKBIA):c.51C>T (p.Arg17=) rs1324940606
NM_020529.3(NFKBIA):c.526C>T (p.Leu176=) rs755819611
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.532G>A (p.Ala178Thr) rs1034704889
NM_020529.3(NFKBIA):c.536C>T (p.Thr179Ile) rs1233242667
NM_020529.3(NFKBIA):c.547+11C>T rs1285955419
NM_020529.3(NFKBIA):c.547+9G>A rs758955844
NM_020529.3(NFKBIA):c.547+9G>C
NM_020529.3(NFKBIA):c.548-5T>C rs2138831281
NM_020529.3(NFKBIA):c.54C>T (p.Asp18=)
NM_020529.3(NFKBIA):c.55G>A (p.Gly19Arg) rs2138834333
NM_020529.3(NFKBIA):c.565T>C (p.Leu189=) rs2502182605
NM_020529.3(NFKBIA):c.569C>T (p.Ala190Val) rs762771956
NM_020529.3(NFKBIA):c.570C>T (p.Ala190=) rs1566590147
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.577C>A (p.His193Asn) rs2052742904
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.585C>T (p.Tyr195=) rs1300120545
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.607G>A (p.Val203Met)
NM_020529.3(NFKBIA):c.612C>T (p.Ser204=) rs2052742552
NM_020529.3(NFKBIA):c.61AAG[1] (p.Lys22del) rs760942646
NM_020529.3(NFKBIA):c.636+15C>T rs753008887
NM_020529.3(NFKBIA):c.636+16_636+17delinsTT
NM_020529.3(NFKBIA):c.636+20G>A rs368603759
NM_020529.3(NFKBIA):c.636+5G>A rs1290714319
NM_020529.3(NFKBIA):c.637-14C>T rs753030896
NM_020529.3(NFKBIA):c.656C>T (p.Thr219Ile)
NM_020529.3(NFKBIA):c.660C>T (p.Ala220=) rs781404120
NM_020529.3(NFKBIA):c.672A>C (p.Ala224=) rs2502181947
NM_020529.3(NFKBIA):c.684A>G (p.Gln228=)
NM_020529.3(NFKBIA):c.685A>G (p.Asn229Asp) rs2502181905
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.705C>T (p.Leu235=) rs760478586
NM_020529.3(NFKBIA):c.705_706insA (p.Leu236fs)
NM_020529.3(NFKBIA):c.714G>C (p.Lys238Asn)
NM_020529.3(NFKBIA):c.732C>T (p.Asn244=) rs2502181757
NM_020529.3(NFKBIA):c.741C>G (p.Thr247=) rs2138830670
NM_020529.3(NFKBIA):c.750C>G (p.Gly250=) rs749777504
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.792G>A (p.Arg264=) rs2138830550
NM_020529.3(NFKBIA):c.792G>C (p.Arg264=) rs2138830550
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.906+14_906+15insG
NM_020529.3(NFKBIA):c.906+16C>A rs1019323420
NM_020529.3(NFKBIA):c.906+16C>T
NM_020529.3(NFKBIA):c.907-11del
NM_020529.3(NFKBIA):c.907-15del rs775742609
NM_020529.3(NFKBIA):c.907-15dup rs775742609
NM_020529.3(NFKBIA):c.911C>G (p.Pro304Arg) rs779867290
NM_020529.3(NFKBIA):c.912C>A (p.Pro304=) rs758044062
NM_020529.3(NFKBIA):c.912C>G (p.Pro304=) rs758044062
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.927G>C (p.Val309=) rs2138829707
NM_020529.3(NFKBIA):c.935G>A (p.Gly312Asp)
NM_020529.3(NFKBIA):c.940C>T (p.Arg314Cys) rs753419932
NM_020529.3(NFKBIA):c.95G>A (p.Ser32Asn) rs28933100

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