ClinVar Miner

Variants in gene CIITA with conflicting interpretations

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Y axis minimum submission review status: Y axis collection method:
X axis minimum submission review status: X axis collection method:
Minimum conflict level:
Gene type:
ClinVar version:

If a variant has more than two submissions, it may have multiple conflicts and therefore be counted in more than one conflict column. If this is the case, the "Variants with any kind of conflict" cell will be less than the sum of the conflicted variants cells to its left.

Variants with only 1 submission per condition Variants with at least 2 submissions on the same condition and no conflicts Variants with a synonymous conflict
(e.g. benign vs non-pathogenic) 		Variants with a confidence conflict
(e.g. benign vs likely benign) 		Variants with a benign or likely benign vs uncertain conflict Variants with a category conflict
(e.g. benign vs affects) 		Variants with a clinically significant conflict
(e.g. benign vs pathogenic) 		Variants with any conflict
1350 175 0 15 68 0 1 81

Significance breakdown #

In the table below, cells that correspond to a term paired with itself represent synonymous conflicts, i.e. variants that have been annotated with different terms that map to the same standard term. To compare the terms that were actually submitted, check the box in the filters section at the top of this page.

pathogenic likely pathogenic uncertain significance likely benign benign
pathogenic 0 1 1 0 0
likely pathogenic 1 0 0 0 0
uncertain significance 1 0 0 59 12
likely benign 0 0 59 0 14
benign 0 0 12 14 0

All variants with conflicting interpretations #

Total variants: 81
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000246.4(CIITA):c.1499G>C (p.Gly500Ala) rs4774 0.27935
NM_000246.4(CIITA):c.2448C>T (p.Ala816=) rs112250421 0.00272
NM_000246.4(CIITA):c.53-12C>T rs112310350 0.00260
NM_000246.4(CIITA):c.1461C>G (p.Ile487Met) rs141202424 0.00124
NM_000246.4(CIITA):c.460G>A (p.Asp154Asn) rs76923280 0.00106
NM_000246.4(CIITA):c.1068G>A (p.Pro356=) rs140486686 0.00080
NM_000246.4(CIITA):c.691C>T (p.Pro231Ser) rs147472574 0.00071
NM_000246.4(CIITA):c.1740C>G (p.Arg580=) rs78666334 0.00070
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.1518G>A (p.Ala506=) rs201215476 0.00043
NM_000246.4(CIITA):c.456G>A (p.Pro152=) rs151317882 0.00035
NM_000246.4(CIITA):c.1926C>T (p.Val642=) rs138376967 0.00033
NM_000246.4(CIITA):c.3150-6C>T rs192219239 0.00030
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.1047T>C (p.Tyr349=) rs144735718 0.00014
NM_000246.4(CIITA):c.1230G>A (p.Pro410=) rs199476069 0.00014
NM_000246.4(CIITA):c.1542G>A (p.Thr514=) rs2228239 0.00014
NM_000246.4(CIITA):c.1791C>G (p.Leu597=) rs201657235 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.772+8C>T rs557455283 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.1486C>T (p.Leu496Phe) rs756970534 0.00008
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.3063-12G>T rs559875711 0.00005
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.2888+1G>A rs372826934 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.1962dup (p.Gly655fs) rs778982759
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.2179G>C (p.Glu727Gln) rs548646642
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.2816+14C>T rs191941806
NM_000246.4(CIITA):c.2832G>T (p.Ser944=) rs766538754
NM_000246.4(CIITA):c.3062+14G>A rs370557976
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.531C>T (p.Ser177=) rs188055251
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

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