ClinVar Miner

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

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 65
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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

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