ClinVar Miner

Variants with conflicting interpretations studied for Glanzmann thrombasthenia

Coded as:
Minimum review status of the submission for Glanzmann thrombasthenia: Collection method of the submission for Glanzmann thrombasthenia:
Minimum review status of the other submission: Collection method of the other submission:
Minimum conflict level:
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
688 104 0 42 31 0 21 93

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.

All conditions
Glanzmann thrombasthenia pathogenic likely pathogenic uncertain significance likely benign benign
pathogenic 0 23 7 0 0
likely pathogenic 22 0 12 0 0
uncertain significance 6 10 0 25 6
likely benign 0 0 26 0 13
benign 0 0 6 13 0

Condition to condition summary #

Total conditions: 2
Download table as spreadsheet
Condition 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
Glanzmann thrombasthenia 729 84 0 29 30 0 14 72
Glanzmann thrombasthenia 1 0 29 0 17 1 0 8 26

All variants with conflicting interpretations #

Total variants: 93
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000419.5(ITGA2B):c.439C>G (p.Leu147Val) rs76066357 0.00936
NM_000419.5(ITGA2B):c.2614C>A (p.Leu872Met) rs149468422 0.00662
NM_000419.5(ITGA2B):c.2916G>A (p.Pro972=) rs5913 0.00354
NM_000212.3(ITGB3):c.57G>T (p.Ala19=) rs534654534 0.00344
NM_000419.5(ITGA2B):c.1627C>T (p.Arg543Trp) rs143967758 0.00277
NM_000212.3(ITGB3):c.197T>G (p.Leu66Arg) rs36080296 0.00155
NM_000419.5(ITGA2B):c.2965G>A (p.Ala989Thr) rs78165611 0.00065
NM_000419.5(ITGA2B):c.799+15C>T rs374469971 0.00061
NM_000212.3(ITGB3):c.1299C>T (p.Pro433=) rs200857868 0.00053
NM_000212.3(ITGB3):c.72C>T (p.Gly24=) rs768269394 0.00052
NM_000419.5(ITGA2B):c.207C>T (p.Gly69=) rs375882355 0.00038
NM_000419.5(ITGA2B):c.487T>C (p.Leu163=) rs141497408 0.00036
NM_000212.3(ITGB3):c.1902C>T (p.Cys634=) rs149823724 0.00031
NM_000419.5(ITGA2B):c.1821G>A (p.Thr607=) rs139878415 0.00031
NM_000212.3(ITGB3):c.285C>T (p.Leu95=) rs151121691 0.00030
NM_000419.5(ITGA2B):c.2449-11C>T rs201702898 0.00026
NM_000419.5(ITGA2B):c.671-13C>T rs200108644 0.00026
NM_000212.3(ITGB3):c.2196C>T (p.Leu732=) rs201741054 0.00019
NM_000212.3(ITGB3):c.537C>T (p.Phe179=) rs770144031 0.00019
NM_000212.3(ITGB3):c.900T>C (p.His300=) rs376378154 0.00019
NM_000419.5(ITGA2B):c.1545-10G>A rs13306474 0.00018
NM_000212.3(ITGB3):c.1960G>A (p.Glu654Lys) rs70940817 0.00017
NM_000419.5(ITGA2B):c.1394-14C>T rs368062044 0.00016
NM_000419.5(ITGA2B):c.2348+15G>A rs200571001 0.00016
NM_000419.5(ITGA2B):c.2334A>G (p.Gln778=) rs117870452 0.00011
NM_000212.3(ITGB3):c.180C>T (p.Gly60=) rs373101628 0.00008
NM_000419.5(ITGA2B):c.671-15T>C rs200877591 0.00008
NM_000419.5(ITGA2B):c.1439+8C>T rs371050454 0.00007
NM_000419.5(ITGA2B):c.1787T>C (p.Ile596Thr) rs76811038 0.00006
NM_000419.5(ITGA2B):c.2862G>A (p.Val954=) rs201119421 0.00006
NM_000212.3(ITGB3):c.2331G>A (p.Thr777=) rs566831897 0.00004
NM_000419.5(ITGA2B):c.1383C>T (p.Asn461=) rs367831764 0.00004
NM_000419.5(ITGA2B):c.858C>T (p.Val286=) rs376672078 0.00004
NM_000419.5(ITGA2B):c.2602-3C>G rs763330792 0.00003
NM_000212.3(ITGB3):c.187C>T (p.Arg63Cys) rs199866795 0.00002
NM_000212.3(ITGB3):c.428T>G (p.Leu143Trp) rs121918452 0.00002
NM_000419.5(ITGA2B):c.3061-4C>T rs530669664 0.00002
NM_000212.3(ITGB3):c.201G>A (p.Lys67=) rs780479441 0.00001
NM_000212.3(ITGB3):c.355C>T (p.Arg119Trp) rs781062792 0.00001
NM_000212.3(ITGB3):c.565C>T (p.Pro189Ser) rs958609406 0.00001
NM_000212.3(ITGB3):c.665T>C (p.Leu222Pro) rs79208797 0.00001
NM_000212.3(ITGB3):c.718C>T (p.Arg240Trp) rs121918446 0.00001
NM_000419.5(ITGA2B):c.1186G>A (p.Asp396Asn) rs1214448436 0.00001
NM_000419.5(ITGA2B):c.1210+105A>G rs992856733 0.00001
NM_000419.5(ITGA2B):c.1361G>A (p.Gly454Asp) rs2048591163 0.00001
NM_000419.5(ITGA2B):c.1389C>T (p.Tyr463=) rs148618973 0.00001
NM_000419.5(ITGA2B):c.1946+1G>A rs746091910 0.00001
NM_000419.5(ITGA2B):c.2333A>C (p.Gln778Pro) rs74475415 0.00001
NM_000419.5(ITGA2B):c.409-1G>A rs1393747638 0.00001
NM_000419.5(ITGA2B):c.526C>G (p.Pro176Ala) rs2048640485 0.00001
NM_000212.3(ITGB3):c.1366A>C (p.Thr456Pro) rs1598694640
NM_000212.3(ITGB3):c.1544G>A (p.Arg515Gln) rs13306487
NM_000212.3(ITGB3):c.1986dup (p.Asp663Ter) rs2143133343
NM_000212.3(ITGB3):c.2328C>T (p.Ala776=) rs563420692
NM_000212.3(ITGB3):c.362-1G>A rs1567764299
NM_000212.3(ITGB3):c.433G>A (p.Asp145Asn) rs121918445
NM_000212.3(ITGB3):c.55dup (p.Ala19fs) rs1302506624
NM_000212.3(ITGB3):c.774T>A (p.Cys258Ter) rs2143097219
NM_000419.5(ITGA2B):c.1014G>A (p.Leu338=) rs886053007
NM_000419.5(ITGA2B):c.1021G>A (p.Ala341Thr) rs2048616842
NM_000419.5(ITGA2B):c.1139G>A (p.Gly380Asp)
NM_000419.5(ITGA2B):c.1234G>A (p.Gly412Arg) rs780786843
NM_000419.5(ITGA2B):c.1346G>A (p.Gly449Asp) rs1598380253
NM_000419.5(ITGA2B):c.1357C>T (p.Arg453Ter) rs151179377
NM_000419.5(ITGA2B):c.1366_1371del (p.Val456_Asp457del) rs780017389
NM_000419.5(ITGA2B):c.138dup (p.Gly47fs) rs2143506473
NM_000419.5(ITGA2B):c.1440-13_1440-1del rs2048585829
NM_000419.5(ITGA2B):c.1440-1G>A rs1598379928
NM_000419.5(ITGA2B):c.188+8G>A rs13306471
NM_000419.5(ITGA2B):c.188+8del rs560275529
NM_000419.5(ITGA2B):c.2150T>C (p.Leu717Pro) rs2143447451
NM_000419.5(ITGA2B):c.2344C>T (p.Arg782Ter) rs1598377051
NM_000419.5(ITGA2B):c.2349-11G>A rs199682503
NM_000419.5(ITGA2B):c.2444A>G (p.Tyr815Cys) rs2048541187
NM_000419.5(ITGA2B):c.2870C>T (p.Ser957Leu) rs80002943
NM_000419.5(ITGA2B):c.2915_2916delinsT (p.Pro972fs) rs2048523750
NM_000419.5(ITGA2B):c.2930del (p.Arg977fs) rs2048523431
NM_000419.5(ITGA2B):c.2946G>A (p.Val982=)
NM_000419.5(ITGA2B):c.2965del (p.Ala989fs) rs2048521625
NM_000419.5(ITGA2B):c.2992del (p.Trp998fs) rs1598375578
NM_000419.5(ITGA2B):c.3076C>T (p.Arg1026Trp) rs766503255
NM_000419.5(ITGA2B):c.337C>T (p.Gln113Ter)
NM_000419.5(ITGA2B):c.414C>A (p.Cys138Ter) rs2048642260
NM_000419.5(ITGA2B):c.476G>T (p.Gly159Val) rs2048641442
NM_000419.5(ITGA2B):c.558C>G (p.Tyr186Ter) rs1416238665
NM_000419.5(ITGA2B):c.559del (p.Val187fs) rs1469711487
NM_000419.5(ITGA2B):c.59T>G (p.Leu20Arg)
NM_000419.5(ITGA2B):c.800G>A (p.Gly267Glu) rs2048627164
NM_000419.5(ITGA2B):c.818G>A (p.Gly273Asp) rs137852907
NM_000419.5(ITGA2B):c.886G>A (p.Gly296Arg) rs753264426
NM_000419.5(ITGA2B):c.889G>C (p.Ala297Pro) rs531610168
NM_000419.5(ITGA2B):c.891+12del rs373578804
NM_000419.5(ITGA2B):c.998+1G>C rs1598381778

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