ClinVar Miner

List of variants in gene CIITA studied for MHC class II deficiency

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 303
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HGVS dbSNP
NC_000016.10:g.(?_10877311)_(10923323_?)del
NM_000246.3(CIITA):c.*103T>C rs45617532
NM_000246.3(CIITA):c.*1092C>T rs886051646
NM_000246.3(CIITA):c.*1122A>G
NM_000246.3(CIITA):c.*1126T>G
NM_000246.3(CIITA):c.*125C>T rs548867769
NM_000246.3(CIITA):c.*126G>A
NM_000246.3(CIITA):c.*157C>T rs45526038
NM_000246.3(CIITA):c.*158G>A rs45451491
NM_000246.3(CIITA):c.*163C>T
NM_000246.3(CIITA):c.*164G>A
NM_000246.3(CIITA):c.*182C>G
NM_000246.3(CIITA):c.*203C>T rs527874709
NM_000246.3(CIITA):c.*23-7G>C rs4780336
NM_000246.3(CIITA):c.*236G>A rs558642278
NM_000246.3(CIITA):c.*261C>T rs45447897
NM_000246.3(CIITA):c.*267A>C
NM_000246.3(CIITA):c.*303C>T
NM_000246.3(CIITA):c.*307G>A rs112026375
NM_000246.3(CIITA):c.*314C>A rs185592699
NM_000246.3(CIITA):c.*351C>T
NM_000246.3(CIITA):c.*378G>A
NM_000246.3(CIITA):c.*395T>C
NM_000246.3(CIITA):c.*414T>C rs141707720
NM_000246.3(CIITA):c.*465G>A rs190253856
NM_000246.3(CIITA):c.*48G>C
NM_000246.3(CIITA):c.*493T>C rs886051643
NM_000246.3(CIITA):c.*524A>G rs886051644
NM_000246.3(CIITA):c.*570G>A rs886051645
NM_000246.3(CIITA):c.*587A>G rs374276437
NM_000246.3(CIITA):c.*644C>G rs139802594
NM_000246.3(CIITA):c.*658G>A
NM_000246.3(CIITA):c.*667T>C
NM_000246.3(CIITA):c.*673G>A
NM_000246.3(CIITA):c.*690C>T rs11074940
NM_000246.3(CIITA):c.*708C>A
NM_000246.3(CIITA):c.*709G>T rs551164286
NM_000246.3(CIITA):c.*735G>A rs34538398
NM_000246.3(CIITA):c.*824T>C
NM_000246.3(CIITA):c.*849T>C
NM_000246.3(CIITA):c.*910T>C rs1139564
NM_000246.3(CIITA):c.*911G>A rs45466393
NM_000246.3(CIITA):c.*927G>A rs45538933
NM_000246.3(CIITA):c.-115T>G rs189636033
NM_000246.3(CIITA):c.-46G>A rs115659359
NM_000246.3(CIITA):c.-82G>A rs886051635
NM_000246.3(CIITA):c.-83C>T
NM_000246.3(CIITA):c.-84C>T
NM_000246.3(CIITA):c.1006+12G>A rs368964652
NM_000246.3(CIITA):c.1010C>T (p.Pro337Leu)
NM_000246.3(CIITA):c.1028G>T (p.Arg343Leu)
NM_000246.3(CIITA):c.1047T>C (p.Tyr349=) rs144735718
NM_000246.3(CIITA):c.1053C>T (p.Ala351=)
NM_000246.3(CIITA):c.1068G>A (p.Pro356=) rs140486686
NM_000246.3(CIITA):c.1075A>G (p.Ile359Val)
NM_000246.3(CIITA):c.109C>A (p.Leu37Ile)
NM_000246.3(CIITA):c.1130G>C (p.Ser377Thr)
NM_000246.3(CIITA):c.1148C>T (p.Ala383Val)
NM_000246.3(CIITA):c.1149C>T (p.Ala383=)
NM_000246.3(CIITA):c.1155G>A (p.Pro385=)
NM_000246.3(CIITA):c.1183G>A (p.Gly395Arg) rs953080654
NM_000246.3(CIITA):c.1211C>T (p.Ala404Val)
NM_000246.3(CIITA):c.1215G>T (p.Lys405Asn) rs886051638
NM_000246.3(CIITA):c.1225C>T (p.Arg409Trp)
NM_000246.3(CIITA):c.1230G>A (p.Pro410=) rs199476069
NM_000246.3(CIITA):c.1231C>T (p.Arg411Cys)
NM_000246.3(CIITA):c.1241G>A (p.Arg414Gln) rs572327540
NM_000246.3(CIITA):c.1241G>T (p.Arg414Leu) rs572327540
NM_000246.3(CIITA):c.1296A>T (p.Ala432=) rs886051639
NM_000246.3(CIITA):c.1304G>A (p.Arg435Gln) rs756879407
NM_000246.3(CIITA):c.1314T>C (p.Ala438=)
NM_000246.3(CIITA):c.1332G>A (p.Gln444=)
NM_000246.3(CIITA):c.133C>G (p.Leu45Val) rs2229317
NM_000246.3(CIITA):c.1344C>A (p.Val448=)
NM_000246.3(CIITA):c.1376C>T (p.Pro459Leu) rs774567918
NM_000246.3(CIITA):c.1389T>C (p.Tyr463=)
NM_000246.3(CIITA):c.1416G>A (p.Leu472=)
NM_000246.3(CIITA):c.1416G>T (p.Leu472=)
NM_000246.3(CIITA):c.141C>G (p.Leu47=)
NM_000246.3(CIITA):c.1429C>A (p.Leu477Ile) rs150205851
NM_000246.3(CIITA):c.1437G>A (p.Ala479=)
NM_000246.3(CIITA):c.1444G>A (p.Glu482Lys) rs772224355
NM_000246.3(CIITA):c.1461C>G (p.Ile487Met)
NM_000246.3(CIITA):c.147C>T (p.His49=) rs886051636
NM_000246.3(CIITA):c.1486C>T (p.Leu496Phe)
NM_000246.3(CIITA):c.1491C>T (p.Ile497=) rs138250353
NM_000246.3(CIITA):c.1493T>C (p.Leu498Pro) rs886051640
NM_000246.3(CIITA):c.1498G>A (p.Gly500Ser)
NM_000246.3(CIITA):c.1499G>C (p.Gly500Ala) rs4774
NM_000246.3(CIITA):c.14C>G (p.Ala5Gly)
NM_000246.3(CIITA):c.1517C>T (p.Ala506Val)
NM_000246.3(CIITA):c.1518G>A (p.Ala506=) rs201215476
NM_000246.3(CIITA):c.1542G>A (p.Thr514=) rs2228239
NM_000246.3(CIITA):c.1545C>T (p.Cys515=)
NM_000246.3(CIITA):c.1556C>T (p.Pro519Leu) rs141006925
NM_000246.3(CIITA):c.1558G>T (p.Ala520Ser)
NM_000246.3(CIITA):c.1559C>T (p.Ala520Val) rs561841137
NM_000246.3(CIITA):c.1572C>T (p.Ser524=) rs745753805
NM_000246.3(CIITA):c.1577G>A (p.Arg526Gln)
NM_000246.3(CIITA):c.1579G>C (p.Gly527Arg) rs35451230
NM_000246.3(CIITA):c.1590C>T (p.Ala530=) rs765568149
NM_000246.3(CIITA):c.1591G>A (p.Gly531Ser)
NM_000246.3(CIITA):c.1620T>C (p.Gly540=)
NM_000246.3(CIITA):c.1635C>G (p.Leu545=) rs748330320
NM_000246.3(CIITA):c.1643G>A (p.Arg548Gln)
NM_000246.3(CIITA):c.1643G>T (p.Arg548Leu) rs376916824
NM_000246.3(CIITA):c.1683C>T (p.Asp561=)
NM_000246.3(CIITA):c.1684G>A (p.Ala562Thr) rs199476070
NM_000246.3(CIITA):c.1702G>A (p.Gly568Ser) rs749343874
NM_000246.3(CIITA):c.170C>A (p.Ala57Asp) rs1555500356
NM_000246.3(CIITA):c.1720G>A (p.Ala574Thr)
NM_000246.3(CIITA):c.1731C>T (p.Tyr577=) rs142848848
NM_000246.3(CIITA):c.1732G>A (p.Val578Met)
NM_000246.3(CIITA):c.1740C>G (p.Arg580=)
NM_000246.3(CIITA):c.1791C>G (p.Leu597=)
NM_000246.3(CIITA):c.1795C>T (p.Arg599Trp)
NM_000246.3(CIITA):c.1803G>C (p.Arg601=)
NM_000246.3(CIITA):c.1814T>G (p.Leu605Arg)
NM_000246.3(CIITA):c.1834A>G (p.Thr612Ala)
NM_000246.3(CIITA):c.1844G>A (p.Arg615Gln)
NM_000246.3(CIITA):c.1856A>G (p.Gln619Arg) rs371603520
NM_000246.3(CIITA):c.1908G>A (p.Thr636=)
NM_000246.3(CIITA):c.1926C>T (p.Val642=) rs138376967
NM_000246.3(CIITA):c.1927G>T (p.Gly643Cys)
NM_000246.3(CIITA):c.1940G>A (p.Arg647His)
NM_000246.3(CIITA):c.1944A>T (p.Ala648=)
NM_000246.3(CIITA):c.1957C>A (p.Pro653Thr) rs199476071
NM_000246.3(CIITA):c.1962dup (p.Gly655fs)
NM_000246.3(CIITA):c.1971G>T (p.Leu657=) rs886051641
NM_000246.3(CIITA):c.1973C>G (p.Ala658Gly) rs2229319
NM_000246.3(CIITA):c.200-10T>C rs45474796
NM_000246.3(CIITA):c.2006G>A (p.Arg669His)
NM_000246.3(CIITA):c.2025A>G (p.Leu675=)
NM_000246.3(CIITA):c.2026C>T (p.Gln676Ter) rs901844850
NM_000246.3(CIITA):c.2028G>C (p.Gln676His)
NM_000246.3(CIITA):c.2059A>G (p.Thr687Ala) rs201080914
NM_000246.3(CIITA):c.2072C>A (p.Ala691Asp) rs78108426
NM_000246.3(CIITA):c.2078G>A (p.Gly693Asp)
NM_000246.3(CIITA):c.2087A>G (p.Gln696Arg) rs886051642
NM_000246.3(CIITA):c.2096C>T (p.Pro699Leu) rs369787912
NM_000246.3(CIITA):c.2098C>T (p.Arg700Trp)
NM_000246.3(CIITA):c.2099G>A (p.Arg700Gln) rs749350138
NM_000246.3(CIITA):c.20G>A (p.Arg7His)
NM_000246.3(CIITA):c.2104G>A (p.Ala702Thr)
NM_000246.3(CIITA):c.2112C>T (p.Ser704=)
NM_000246.3(CIITA):c.2135T>C (p.Leu712Pro)
NM_000246.3(CIITA):c.2139G>A (p.Leu713=)
NM_000246.3(CIITA):c.2142A>G (p.Gln714=)
NM_000246.3(CIITA):c.2148C>T (p.Phe716=) rs762483007
NM_000246.3(CIITA):c.2154G>A (p.Gly718=)
NM_000246.3(CIITA):c.2178C>T (p.Gly726=) rs150014874
NM_000246.3(CIITA):c.2179G>C (p.Glu727Gln)
NM_000246.3(CIITA):c.2184C>G (p.Ile728Met)
NM_000246.3(CIITA):c.225C>T (p.Cys75=) rs2229318
NM_000246.3(CIITA):c.2286C>A (p.Ile762=) rs35976871
NM_000246.3(CIITA):c.2322C>T (p.Leu774=)
NM_000246.3(CIITA):c.2331G>A (p.Ser777=)
NM_000246.3(CIITA):c.2331G>T (p.Ser777=) rs34685848
NM_000246.3(CIITA):c.2342C>T (p.Ser781Leu) rs13330686
NM_000246.3(CIITA):c.2343G>A (p.Ser781=) rs749019138
NM_000246.3(CIITA):c.2345T>C (p.Val782Ala) rs13336804
NM_000246.3(CIITA):c.2348A>C (p.Asp783Ala)
NM_000246.3(CIITA):c.2356C>A (p.Gln786Lys) rs199476072
NM_000246.3(CIITA):c.2394G>A (p.Pro798=) rs2229320
NM_000246.3(CIITA):c.2405G>A (p.Arg802Gln) rs201182990
NM_000246.3(CIITA):c.2408C>T (p.Ala803Val)
NM_000246.3(CIITA):c.2409G>A (p.Ala803=)
NM_000246.3(CIITA):c.2421G>T (p.Leu807=) rs34654419
NM_000246.3(CIITA):c.2436C>T (p.Cys812=)
NM_000246.3(CIITA):c.2442C>T (p.His814=)
NM_000246.3(CIITA):c.2448C>T (p.Ala816=) rs112250421
NM_000246.3(CIITA):c.2458G>A (p.Gly820Arg)
NM_000246.3(CIITA):c.2472C>T (p.His824=) rs45621432
NM_000246.3(CIITA):c.2478A>G (p.Val826=) rs376456953
NM_000246.3(CIITA):c.2494C>G (p.Arg832Gly)
NM_000246.3(CIITA):c.2536C>T (p.His846Tyr)
NM_000246.3(CIITA):c.2539G>A (p.Val847Ile)
NM_000246.3(CIITA):c.2544G>A (p.Leu848=) rs1567423502
NM_000246.3(CIITA):c.2551G>A (p.Ala851Thr)
NM_000246.3(CIITA):c.2565G>A (p.Ala855=) rs2229321
NM_000246.3(CIITA):c.2576T>G (p.Phe859Cys)
NM_000246.3(CIITA):c.2610C>G (p.Pro870=)
NM_000246.3(CIITA):c.2617T>C (p.Leu873=)
NM_000246.3(CIITA):c.2620G>T (p.Gly874Trp) rs113889330
NM_000246.3(CIITA):c.2649C>T (p.Thr883=)
NM_000246.3(CIITA):c.2651G>A (p.Arg884His) rs374443915
NM_000246.3(CIITA):c.2657+1G>A
NM_000246.3(CIITA):c.2657+4G>A
NM_000246.3(CIITA):c.2674A>G (p.Thr892Ala)
NM_000246.3(CIITA):c.2676G>A (p.Thr892=) rs2228238
NM_000246.3(CIITA):c.2682G>A (p.Ala894=)
NM_000246.3(CIITA):c.2691G>T (p.Glu897Asp)
NM_000246.3(CIITA):c.2698_2699inv (p.Gln900Trp)
NM_000246.3(CIITA):c.2699A>G (p.Gln900Arg) rs7197779
NM_000246.3(CIITA):c.2709G>A (p.Gly903=) rs755515727
NM_000246.3(CIITA):c.2758T>C (p.Phe920Leu)
NM_000246.3(CIITA):c.2816+14C>T
NM_000246.3(CIITA):c.2817-10T>C
NM_000246.3(CIITA):c.2817-8C>G
NM_000246.3(CIITA):c.2819C>T (p.Thr940Met)
NM_000246.3(CIITA):c.2832G>A (p.Ser944=)
NM_000246.3(CIITA):c.2832G>T (p.Ser944=)
NM_000246.3(CIITA):c.2834A>C (p.Glu945Ala) rs747917501
NM_000246.3(CIITA):c.2864G>A (p.Arg955Gln)
NM_000246.3(CIITA):c.286G>A (p.Ala96Thr) rs149253747
NM_000246.3(CIITA):c.2888+1G>A rs372826934
NM_000246.3(CIITA):c.2889-5C>T rs1555507408
NM_000246.3(CIITA):c.2892G>A (p.Leu964=) rs200599265
NM_000246.3(CIITA):c.2899G>T (p.Val967Phe)
NM_000246.3(CIITA):c.2924A>G (p.Lys975Arg) rs140103491
NM_000246.3(CIITA):c.2942C>T (p.Thr981Met) rs369744959
NM_000246.3(CIITA):c.294C>T (p.Ile98=) rs200299817
NM_000246.3(CIITA):c.2978C>T (p.Ala993Val)
NM_000246.3(CIITA):c.2979G>A (p.Ala993=)
NM_000246.3(CIITA):c.3000G>A (p.Gly1000=)
NM_000246.3(CIITA):c.3003C>T (p.Asp1001=)
NM_000246.3(CIITA):c.3012C>T (p.Val1004=)
NM_000246.3(CIITA):c.3015G>A (p.Ser1005=)
NM_000246.3(CIITA):c.3025_3026delinsAA (p.Ala1009Asn)
NM_000246.3(CIITA):c.3033C>G (p.Phe1011Leu)
NM_000246.3(CIITA):c.3052G>A (p.Glu1018Lys)
NM_000246.3(CIITA):c.3062+14G>A
NM_000246.3(CIITA):c.3063-12G>T rs559875711
NM_000246.3(CIITA):c.307C>A (p.Gln103Lys) rs371519540
NM_000246.3(CIITA):c.3108C>T (p.Ala1036=)
NM_000246.3(CIITA):c.3123G>C (p.Ser1041=) rs138925894
NM_000246.3(CIITA):c.3123G>T (p.Ser1041=)
NM_000246.3(CIITA):c.3149+11C>T rs371453398
NM_000246.3(CIITA):c.3150-6C>T
NM_000246.3(CIITA):c.3171C>T (p.Cys1057=) rs2229322
NM_000246.3(CIITA):c.3175G>A (p.Val1059Met)
NM_000246.3(CIITA):c.3180A>G (p.Gly1060=)
NM_000246.3(CIITA):c.3217T>A (p.Ser1073Thr) rs761139192
NM_000246.3(CIITA):c.3219C>T (p.Ser1073=)
NM_000246.3(CIITA):c.3233+8_3233+9del
NM_000246.3(CIITA):c.3234C>T (p.Asp1078=)
NM_000246.3(CIITA):c.3235G>A (p.Val1079Ile)
NM_000246.3(CIITA):c.3255G>A (p.Thr1085=) rs75521576
NM_000246.3(CIITA):c.3261C>G (p.Ala1087=)
NM_000246.3(CIITA):c.3309G>A (p.Glu1103=)
NM_000246.3(CIITA):c.3311C>T (p.Thr1104Met) rs367805896
NM_000246.3(CIITA):c.3318-8C>G
NM_000246.3(CIITA):c.3326C>G (p.Thr1109Arg) rs1013962316
NM_000246.3(CIITA):c.3327G>A (p.Thr1109=)
NM_000246.3(CIITA):c.3344G>A (p.Ser1115Asn) rs138790505
NM_000246.3(CIITA):c.3352G>A (p.Glu1118Lys) rs1555509348
NM_000246.3(CIITA):c.3357C>T (p.His1119=)
NM_000246.3(CIITA):c.3377G>A (p.Arg1126Gln)
NM_000246.3(CIITA):c.338dup (p.Leu114fs)
NM_000246.3(CIITA):c.352A>G (p.Ile118Val)
NM_000246.3(CIITA):c.358+11G>A
NM_000246.3(CIITA):c.366A>T (p.Ile122=)
NM_000246.3(CIITA):c.370C>A (p.Pro124Thr) rs77169590
NM_000246.3(CIITA):c.384C>T (p.Ile128=) rs140106499
NM_000246.3(CIITA):c.386G>A (p.Gly129Asp)
NM_000246.3(CIITA):c.38T>C (p.Leu13Pro)
NM_000246.3(CIITA):c.404C>T (p.Pro135Leu)
NM_000246.3(CIITA):c.413T>C (p.Val138Ala) rs142469968
NM_000246.3(CIITA):c.44A>G (p.Glu15Gly) rs572170388
NM_000246.3(CIITA):c.455C>T (p.Pro152Leu)
NM_000246.3(CIITA):c.456G>A (p.Pro152=) rs151317882
NM_000246.3(CIITA):c.460G>A (p.Asp154Asn)
NM_000246.3(CIITA):c.487C>A (p.Pro163Thr)
NM_000246.3(CIITA):c.491C>G (p.Pro164Arg) rs886051637
NM_000246.3(CIITA):c.492C>G (p.Pro164=) rs142478532
NM_000246.3(CIITA):c.494C>G (p.Thr165Ser) rs34648899
NM_000246.3(CIITA):c.494C>T (p.Thr165Ile)
NM_000246.3(CIITA):c.52+9G>A rs199476060
NM_000246.3(CIITA):c.520= (p.Gly174=) rs8046121
NM_000246.3(CIITA):c.520G>A (p.Gly174Arg) rs8046121
NM_000246.3(CIITA):c.53-12C>T
NM_000246.3(CIITA):c.544C>A (p.Leu182Met)
NM_000246.3(CIITA):c.565G>A (p.Ala189Thr) rs370429955
NM_000246.3(CIITA):c.566C>T (p.Ala189Val) rs149076617
NM_000246.3(CIITA):c.567G>A (p.Ala189=)
NM_000246.3(CIITA):c.592G>A (p.Gly198Ser) rs148279688
NM_000246.3(CIITA):c.5G>A (p.Arg2His)
NM_000246.3(CIITA):c.602G>A (p.Arg201His)
NM_000246.3(CIITA):c.616G>A (p.Asp206Asn) rs771338224
NM_000246.3(CIITA):c.629-9C>T rs372749477
NM_000246.3(CIITA):c.63G>C (p.Gln21His)
NM_000246.3(CIITA):c.691C>T (p.Pro231Ser) rs147472574
NM_000246.3(CIITA):c.772+5G>T
NM_000246.3(CIITA):c.772+8C>T rs557455283
NM_000246.3(CIITA):c.772+9G>A
NM_000246.3(CIITA):c.773-11C>T rs767721211
NM_000246.3(CIITA):c.773-9C>G rs756972663
NM_000246.3(CIITA):c.781C>T (p.Pro261Ser) rs757943329
NM_000246.3(CIITA):c.78G>C (p.Glu26Asp)
NM_000246.3(CIITA):c.807C>T (p.Pro269=)
NM_000246.3(CIITA):c.825C>T (p.His275=)
NM_000246.3(CIITA):c.826G>A (p.Gly276Ser) rs142461515
NM_000246.3(CIITA):c.835A>G (p.Thr279Ala)
NM_000246.3(CIITA):c.898A>C (p.Met300Leu)
NM_000246.3(CIITA):c.922C>T (p.Arg308Ter)
NM_000246.3(CIITA):c.929A>T (p.Asn310Ile) rs1567409783
NM_000246.3(CIITA):c.931A>G (p.Met311Val) rs140139362
NM_000246.3(CIITA):c.947C>T (p.Thr316Met)
NM_000246.3(CIITA):c.948G>A (p.Thr316=)
NM_000246.3(CIITA):c.961T>C (p.Cys321Arg)
NM_000246.3(CIITA):c.963C>T (p.Cys321=)
NM_000246.3(CIITA):c.970G>T (p.Ala324Ser)
NM_000246.3(CIITA):c.979G>A (p.Val327Ile)

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