ClinVar Miner

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

Submission 1 (likely benign) minimum review status: Submission 1 (likely benign) method:
Submission 2 (uncertain significance) minimum review status: Submission 2 (uncertain significance) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 43
Download table as spreadsheet
HGVS dbSNP
NM_000246.3(CIITA):c.1149C>T (p.Ala383=) rs748867171
NM_000246.3(CIITA):c.1527C>T (p.Gly509=) rs1427227633
NM_000246.3(CIITA):c.1542G>A (p.Thr514=) rs2228239
NM_000246.3(CIITA):c.1545C>T (p.Cys515=) rs200146904
NM_000246.3(CIITA):c.1635C>G (p.Leu545=) rs748330320
NM_000246.3(CIITA):c.1683C>T (p.Asp561=) rs76686583
NM_000246.3(CIITA):c.1731C>T (p.Tyr577=) rs142848848
NM_000246.3(CIITA):c.1834A>G (p.Thr612Ala)
NM_000246.3(CIITA):c.1908G>A (p.Thr636=) rs200398959
NM_000246.3(CIITA):c.1944A>T (p.Ala648=)
NM_000246.3(CIITA):c.2139G>A (p.Leu713=)
NM_000246.3(CIITA):c.2148C>T (p.Phe716=) rs762483007
NM_000246.3(CIITA):c.2405G>A (p.Arg802Gln) rs201182990
NM_000246.3(CIITA):c.2409G>A (p.Ala803=)
NM_000246.3(CIITA):c.2442C>T (p.His814=) rs746490057
NM_000246.3(CIITA):c.2617T>C (p.Leu873=) rs368233530
NM_000246.3(CIITA):c.2651G>A (p.Arg884His) rs374443915
NM_000246.3(CIITA):c.2709G>A (p.Gly903=) rs755515727
NM_000246.3(CIITA):c.2817-10T>C rs75381106
NM_000246.3(CIITA):c.2832G>A (p.Ser944=) rs766538754
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.3003C>T (p.Asp1001=) rs143497260
NM_000246.3(CIITA):c.3175G>A (p.Val1059Met) rs200742204
NM_000246.3(CIITA):c.3261C>G (p.Ala1087=) rs149640268
NM_000246.3(CIITA):c.3318-8C>G
NM_000246.3(CIITA):c.3357C>T (p.His1119=) rs754706834
NM_000246.3(CIITA):c.366A>T (p.Ile122=)
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.772+5G>T rs376221650
NM_000246.3(CIITA):c.772+9G>A rs750572482
NM_000246.3(CIITA):c.931A>G (p.Met311Val) rs140139362
NM_000246.3(CIITA):c.948G>A (p.Thr316=)
NM_000246.4(CIITA):c.1044G>T (p.Thr348=)
NM_000246.4(CIITA):c.200-9T>C
NM_000246.4(CIITA):c.2994G>A (p.Lys998=)
NM_000246.4(CIITA):c.3088C>T (p.Leu1030=)
NM_000246.4(CIITA):c.3233+7G>A
NM_000246.4(CIITA):c.436+9del
NM_000246.4(CIITA):c.649T>C (p.Leu217=)
NM_000246.4(CIITA):c.712C>T (p.His238Tyr)

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.