ClinVar Miner

Variants in gene CIITA with conflicting interpretations "uncertain significance" and "likely benign"

Submission 1 (uncertain significance) minimum review status: Submission 1 (uncertain significance) method:
Submission 2 (likely benign) minimum review status: Submission 2 (likely benign) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 59
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000246.4(CIITA):c.460G>A (p.Asp154Asn) rs76923280 0.00106
NM_000246.4(CIITA):c.712C>T (p.His238Tyr) rs150307400 0.00054
NM_000246.4(CIITA):c.931A>G (p.Met311Val) rs140139362 0.00050
NM_000246.4(CIITA):c.2651G>A (p.Arg884His) rs374443915 0.00048
NM_000246.4(CIITA):c.456G>A (p.Pro152=) rs151317882 0.00035
NM_000246.4(CIITA):c.2817-10T>C rs75381106 0.00024
NM_000246.4(CIITA):c.2892G>A (p.Leu964=) rs200599265 0.00021
NM_000246.4(CIITA):c.1542G>A (p.Thr514=) rs2228239 0.00014
NM_000246.4(CIITA):c.3003C>T (p.Asp1001=) rs143497260 0.00013
NM_000246.4(CIITA):c.1908G>A (p.Thr636=) rs200398959 0.00012
NM_000246.4(CIITA):c.2405G>A (p.Arg802Gln) rs201182990 0.00011
NM_000246.4(CIITA):c.1545C>T (p.Cys515=) rs200146904 0.00010
NM_000246.4(CIITA):c.2384G>A (p.Arg795Gln) rs553503699 0.00008
NM_000246.4(CIITA):c.1683C>T (p.Asp561=) rs76686583 0.00007
NM_000246.4(CIITA):c.1731C>T (p.Tyr577=) rs142848848 0.00007
NM_000246.4(CIITA):c.1006+12G>A rs368964652 0.00006
NM_000246.4(CIITA):c.1944A>T (p.Ala648=) rs778678693 0.00006
NM_000246.4(CIITA):c.2832G>A (p.Ser944=) rs766538754 0.00006
NM_000246.4(CIITA):c.2979G>A (p.Ala993=) rs142031278 0.00006
NM_000246.4(CIITA):c.3175G>A (p.Val1059Met) rs200742204 0.00006
NM_000246.4(CIITA):c.384C>T (p.Ile128=) rs140106499 0.00006
NM_000246.4(CIITA):c.772+5G>T rs376221650 0.00006
NM_000246.4(CIITA):c.1834A>G (p.Thr612Ala) rs142257962 0.00004
NM_000246.4(CIITA):c.2617T>C (p.Leu873=) rs368233530 0.00004
NM_000246.4(CIITA):c.3012C>T (p.Val1004=) rs751445508 0.00004
NM_000246.4(CIITA):c.2409G>A (p.Ala803=) rs755302593 0.00003
NM_000246.4(CIITA):c.2442C>T (p.His814=) rs746490057 0.00003
NM_000246.4(CIITA):c.3357C>T (p.His1119=) rs754706834 0.00003
NM_000246.4(CIITA):c.772+9G>A rs750572482 0.00003
NM_000246.4(CIITA):c.948G>A (p.Thr316=) rs369971838 0.00003
NM_000246.4(CIITA):c.1527C>T (p.Gly509=) rs1427227633 0.00002
NM_000246.4(CIITA):c.2343G>A (p.Ser781=) rs749019138 0.00002
NM_000246.4(CIITA):c.3207G>A (p.Pro1069=) rs772387879 0.00002
NM_000246.4(CIITA):c.3318-8C>G rs201115726 0.00002
NM_000246.4(CIITA):c.1149C>T (p.Ala383=) rs748867171 0.00001
NM_000246.4(CIITA):c.1635C>G (p.Leu545=) rs748330320 0.00001
NM_000246.4(CIITA):c.200-9T>C rs778238111 0.00001
NM_000246.4(CIITA):c.2139G>A (p.Leu713=) rs1319022837 0.00001
NM_000246.4(CIITA):c.2256G>A (p.Glu752=) rs200577013 0.00001
NM_000246.4(CIITA):c.2709G>A (p.Gly903=) rs755515727 0.00001
NM_000246.4(CIITA):c.2994G>A (p.Lys998=) rs1286058878 0.00001
NM_000246.4(CIITA):c.3088C>T (p.Leu1030=) rs763766993 0.00001
NM_000246.4(CIITA):c.3149+11C>T rs371453398 0.00001
NM_000246.4(CIITA):c.3233+7G>A rs765558693 0.00001
NM_000246.4(CIITA):c.436+9del rs1567398077 0.00001
NM_000246.4(CIITA):c.1044G>T (p.Thr348=) rs140683241
NM_000246.4(CIITA):c.2142A>G (p.Gln714=) rs188988714
NM_000246.4(CIITA):c.2148C>T (p.Phe716=) rs762483007
NM_000246.4(CIITA):c.2259C>T (p.Gly753=) rs754313400
NM_000246.4(CIITA):c.2331G>A (p.Ser777=) rs34685848
NM_000246.4(CIITA):c.2658-10C>T rs1337213724
NM_000246.4(CIITA):c.2832G>T (p.Ser944=) rs766538754
NM_000246.4(CIITA):c.3123G>C (p.Ser1041=) rs138925894
NM_000246.4(CIITA):c.3261C>G (p.Ala1087=) rs149640268
NM_000246.4(CIITA):c.366A>T (p.Ile122=) rs535705691
NM_000246.4(CIITA):c.492C>G (p.Pro164=) rs142478532
NM_000246.4(CIITA):c.649T>C (p.Leu217=) rs773897183
NM_000246.4(CIITA):c.950C>A (p.Ser317Tyr) rs116253192
NM_000246.4(CIITA):c.965C>T (p.Pro322Leu) rs74806537

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.