ClinVar Miner

List of variants reported as likely benign for MHC class II deficiency

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 110
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HGVS dbSNP
NM_000246.3(CIITA):c.*157C>T rs45526038
NM_000246.3(CIITA):c.-115T>G rs189636033
NM_000246.3(CIITA):c.1053C>T (p.Ala351=) rs147912483
NM_000246.3(CIITA):c.1149C>T (p.Ala383=) rs748867171
NM_000246.3(CIITA):c.1155G>A (p.Pro385=) rs930885758
NM_000246.3(CIITA):c.1230G>A (p.Pro410=) rs199476069
NM_000246.3(CIITA):c.1314T>C (p.Ala438=) rs749994940
NM_000246.3(CIITA):c.1332G>A (p.Gln444=) rs1596550338
NM_000246.3(CIITA):c.1344C>A (p.Val448=) rs372566990
NM_000246.3(CIITA):c.1389T>C (p.Tyr463=) rs1306793050
NM_000246.3(CIITA):c.1416G>T (p.Leu472=) rs757999354
NM_000246.3(CIITA):c.141C>G (p.Leu47=) rs770687816
NM_000246.3(CIITA):c.1437G>A (p.Ala479=) rs779022639
NM_000246.3(CIITA):c.1486C>T (p.Leu496Phe) rs756970534
NM_000246.3(CIITA):c.1545C>T (p.Cys515=) rs200146904
NM_000246.3(CIITA):c.1572C>T (p.Ser524=) rs745753805
NM_000246.3(CIITA):c.1590C>T (p.Ala530=) rs765568149
NM_000246.3(CIITA):c.1620T>C (p.Gly540=) rs547699469
NM_000246.3(CIITA):c.1683C>T (p.Asp561=) rs76686583
NM_000246.3(CIITA):c.1803G>C (p.Arg601=) rs758215284
NM_000246.3(CIITA):c.1908G>A (p.Thr636=) rs200398959
NM_000246.3(CIITA):c.2025A>G (p.Leu675=) rs200253132
NM_000246.3(CIITA):c.2112C>T (p.Ser704=) rs1463138775
NM_000246.3(CIITA):c.2154G>A (p.Gly718=) rs201455192
NM_000246.3(CIITA):c.2178C>T (p.Gly726=) rs150014874
NM_000246.3(CIITA):c.2179G>C (p.Glu727Gln) rs548646642
NM_000246.3(CIITA):c.2322C>T (p.Leu774=) rs77072504
NM_000246.3(CIITA):c.2408C>T (p.Ala803Val) rs577781366
NM_000246.3(CIITA):c.2436C>T (p.Cys812=) rs771994666
NM_000246.3(CIITA):c.2442C>T (p.His814=) rs746490057
NM_000246.3(CIITA):c.2448C>T (p.Ala816=) rs112250421
NM_000246.3(CIITA):c.2478A>G (p.Val826=) rs376456953
NM_000246.3(CIITA):c.2610C>G (p.Pro870=) rs1025580450
NM_000246.3(CIITA):c.2617T>C (p.Leu873=) rs368233530
NM_000246.3(CIITA):c.2649C>T (p.Thr883=) rs969921250
NM_000246.3(CIITA):c.2817-10T>C rs75381106
NM_000246.3(CIITA):c.2832G>A (p.Ser944=) rs766538754
NM_000246.3(CIITA):c.2889-5C>T rs1555507408
NM_000246.3(CIITA):c.2892G>A (p.Leu964=) rs200599265
NM_000246.3(CIITA):c.2979G>A (p.Ala993=) rs142031278
NM_000246.3(CIITA):c.3000G>A (p.Gly1000=) rs200212249
NM_000246.3(CIITA):c.3003C>T (p.Asp1001=) rs143497260
NM_000246.3(CIITA):c.3015G>A (p.Ser1005=) rs764664500
NM_000246.3(CIITA):c.3033C>G (p.Phe1011Leu) rs576290462
NM_000246.3(CIITA):c.3123G>T (p.Ser1041=) rs138925894
NM_000246.3(CIITA):c.3180A>G (p.Gly1060=) rs748093417
NM_000246.3(CIITA):c.3219C>T (p.Ser1073=) rs1427439897
NM_000246.3(CIITA):c.3261C>G (p.Ala1087=) rs149640268
NM_000246.3(CIITA):c.3309G>A (p.Glu1103=) rs1319803512
NM_000246.3(CIITA):c.3327G>A (p.Thr1109=) rs776446459
NM_000246.3(CIITA):c.3357C>T (p.His1119=) rs754706834
NM_000246.3(CIITA):c.384C>T (p.Ile128=) rs140106499
NM_000246.3(CIITA):c.460G>A (p.Asp154Asn) rs76923280
NM_000246.3(CIITA):c.492C>G (p.Pro164=) rs142478532
NM_000246.3(CIITA):c.52+9G>A rs199476060
NM_000246.3(CIITA):c.53-12C>T
NM_000246.3(CIITA):c.567G>A (p.Ala189=) rs143123121
NM_000246.3(CIITA):c.592G>A (p.Gly198Ser) rs148279688
NM_000246.3(CIITA):c.629-9C>T rs372749477
NM_000246.3(CIITA):c.772+5G>T rs376221650
NM_000246.3(CIITA):c.772+9G>A rs750572482
NM_000246.3(CIITA):c.807C>T (p.Pro269=) rs137859900
NM_000246.3(CIITA):c.825C>T (p.His275=) rs746766830
NM_000246.3(CIITA):c.931A>G (p.Met311Val) rs140139362
NM_000246.3(CIITA):c.963C>T (p.Cys321=) rs781290238
NM_000449.3(RFX5):c.-74T>G rs138110902
NM_000449.3(RFX5):c.1092A>G (p.Thr364=) rs753408194
NM_000449.3(RFX5):c.1185A>G (p.Gly395=) rs372560621
NM_000449.3(RFX5):c.1323C>T (p.Ala441=) rs1233467888
NM_000449.3(RFX5):c.1379G>A (p.Ser460Asn) rs142053610
NM_000449.3(RFX5):c.1455G>A (p.Lys485=) rs543484330
NM_000449.3(RFX5):c.1569G>A (p.Glu523=) rs137968641
NM_000449.3(RFX5):c.1830C>G (p.Asp610Glu) rs141889707
NM_000449.3(RFX5):c.603G>A (p.Val201=) rs776987628
NM_000449.3(RFX5):c.678C>T (p.Val226=) rs559709373
NM_000538.3(RFXAP):c.*1194A>G rs11539183
NM_000538.3(RFXAP):c.120_125dup (p.Ala41_Ser42dup) rs763202512
NM_000538.3(RFXAP):c.222G>A (p.Leu74=) rs1460528998
NM_000538.3(RFXAP):c.24G>A (p.Glu8=) rs540467033
NM_000538.3(RFXAP):c.297G>C (p.Pro99=) rs183370317
NM_000538.3(RFXAP):c.354G>C (p.Ser118=) rs113555392
NM_000538.3(RFXAP):c.430G>A (p.Glu144Lys) rs201754085
NM_000538.3(RFXAP):c.672T>C (p.Pro224=) rs866409620
NM_000538.3(RFXAP):c.699A>G (p.Gln233=) rs202180471
NM_000538.3(RFXAP):c.756A>G (p.Gln252=) rs141918438
NM_000538.3(RFXAP):c.77C>G (p.Pro26Arg) rs763162669
NM_000538.4(RFXAP):c.*479G>A
NM_000538.4(RFXAP):c.123C>T (p.Ala41=) rs764409673
NM_000538.4(RFXAP):c.459G>A (p.Val153=) rs112803942
NM_001025603.2(RFX5):c.*1413A>C
NM_003721.4(RFXANK):c.*9T>C rs73922832
NM_003721.4(RFXANK):c.-116T>C rs1050483
NM_003721.4(RFXANK):c.-229C>T rs79003009
NM_003721.4(RFXANK):c.-240A>T rs73922821
NM_003721.4(RFXANK):c.-328G>A rs62135502
NM_003721.4(RFXANK):c.-366C>A rs116660619
NM_003721.4(RFXANK):c.132C>T (p.Pro44=) rs745351660
NM_003721.4(RFXANK):c.144G>C (p.Glu48Asp) rs34282046
NM_003721.4(RFXANK):c.188-11C>T rs201545133
NM_003721.4(RFXANK):c.438+8C>G rs768313740
NM_003721.4(RFXANK):c.445G>A (p.Asp149Asn) rs115220304
NM_003721.4(RFXANK):c.501C>A (p.Gly167=) rs145457604
NM_003721.4(RFXANK):c.529C>G (p.Leu177Val) rs151053440
NM_003721.4(RFXANK):c.535C>T (p.Arg179Cys)
NM_003721.4(RFXANK):c.654C>T (p.Thr218=) rs8862
NM_003721.4(RFXANK):c.708G>T (p.Arg236=) rs781614267
NM_003721.4(RFXANK):c.712+4A>G rs73922830
NM_003721.4(RFXANK):c.751C>G (p.Gln251Glu) rs1802498
NM_003721.4(RFXANK):c.775C>T (p.Pro259Ser) rs199868077
NM_003721.4(RFXANK):c.95C>T (p.Ala32Val) rs114064359

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