ClinVar Miner

Variants in gene ITGB2 with conflicting interpretations

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
736 75 0 18 36 0 0 54

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 8 0 0 0
likely pathogenic 8 0 0 0 0
uncertain significance 0 0 0 30 6
likely benign 0 0 30 0 10
benign 0 0 6 10 0

All variants with conflicting interpretations #

Total variants: 54
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000211.5(ITGB2):c.1002C>T (p.Thr334=) rs61737081 0.01093
NM_000211.5(ITGB2):c.1756C>T (p.Arg586Trp) rs5030672 0.00847
NM_000211.5(ITGB2):c.329-6C>T rs9983887 0.00807
NM_000211.5(ITGB2):c.1888G>A (p.Glu630Lys) rs2230531 0.00510
NM_000211.5(ITGB2):c.1542C>T (p.Cys514=) rs2230530 0.00405
NM_000211.5(ITGB2):c.147+9C>T rs199948899 0.00243
NM_000211.5(ITGB2):c.525C>T (p.Thr175=) rs200134130 0.00236
NM_000211.5(ITGB2):c.1635C>T (p.Asn545=) rs61747606 0.00224
NM_000211.5(ITGB2):c.807C>T (p.Phe269=) rs142381225 0.00222
NM_000211.5(ITGB2):c.162G>A (p.Pro54=) rs138303556 0.00201
NM_000211.5(ITGB2):c.311C>T (p.Thr104Met) rs138682103 0.00121
NM_000211.5(ITGB2):c.2050C>T (p.Arg684Cys) rs147238010 0.00081
NM_000211.5(ITGB2):c.732C>T (p.Ala244=) rs146557638 0.00072
NM_000211.5(ITGB2):c.1413-8G>A rs375743879 0.00048
NM_000211.5(ITGB2):c.853C>T (p.Arg285Cys) rs137959302 0.00048
NM_000211.5(ITGB2):c.2145C>T (p.Ile715=) rs144590448 0.00036
NM_000211.5(ITGB2):c.742-15A>G rs199665785 0.00035
NM_000211.5(ITGB2):c.1877+12C>T rs200144784 0.00027
NM_000211.5(ITGB2):c.1575C>T (p.Pro525=) rs200615045 0.00024
NM_000211.5(ITGB2):c.847G>A (p.Asp283Asn) rs149483341 0.00023
NM_000211.5(ITGB2):c.1146C>T (p.Tyr382=) rs61737080 0.00019
NM_000211.5(ITGB2):c.537C>T (p.Phe179=) rs371548080 0.00016
NM_000211.5(ITGB2):c.228C>T (p.Asp76=) rs368629638 0.00015
NM_000211.5(ITGB2):c.159G>A (p.Gly53=) rs200150384 0.00014
NM_000211.5(ITGB2):c.714C>T (p.Asp238=) rs752901414 0.00013
NM_000211.5(ITGB2):c.742-5C>G rs542698586 0.00011
NM_000211.5(ITGB2):c.1725C>T (p.Cys575=) rs373452460 0.00009
NM_000211.5(ITGB2):c.729C>T (p.Val243=) rs199735877 0.00009
NM_000211.5(ITGB2):c.2283C>T (p.Val761=) rs192197684 0.00007
NM_000211.5(ITGB2):c.381C>T (p.Ile127=) rs483352812 0.00007
NM_000211.5(ITGB2):c.768G>A (p.Thr256=) rs201148219 0.00006
NM_000211.5(ITGB2):c.849C>T (p.Asp283=) rs35013643 0.00006
NM_000211.5(ITGB2):c.1320G>C (p.Gln440His) rs138703739 0.00005
NM_000211.5(ITGB2):c.681C>T (p.Ser227=) rs369981986 0.00005
NM_000211.5(ITGB2):c.817G>A (p.Gly273Arg) rs137852618 0.00005
NM_000211.5(ITGB2):c.897+14C>A rs374471192 0.00005
NM_000211.5(ITGB2):c.897+1G>A rs201752283 0.00004
NM_000211.5(ITGB2):c.1125C>T (p.Pro375=) rs754762370 0.00003
NM_000211.5(ITGB2):c.1688G>A (p.Arg563His) rs550704811 0.00003
NM_000211.5(ITGB2):c.850G>A (p.Gly284Ser) rs137852616 0.00003
NM_000211.5(ITGB2):c.59-9G>A rs141780263 0.00002
NM_000211.5(ITGB2):c.2247+10C>T rs147248229 0.00001
NM_000211.5(ITGB2):c.328+14C>T rs780089604 0.00001
NM_000211.5(ITGB2):c.432G>A (p.Arg144=) rs886057119 0.00001
NM_000211.5(ITGB2):c.1084-5C>T rs781696813
NM_000211.5(ITGB2):c.1464G>A (p.Arg488=) rs202051683
NM_000211.5(ITGB2):c.186C>A (p.Cys62Ter) rs778074755
NM_000211.5(ITGB2):c.1944G>A (p.Pro648=) rs139840790
NM_000211.5(ITGB2):c.1968C>T (p.Pro656=) rs766106686
NM_000211.5(ITGB2):c.2200G>T (p.Glu734Ter) rs1464015799
NM_000211.5(ITGB2):c.295del (p.Ser99fs) rs2517152384
NM_000211.5(ITGB2):c.322C>T (p.Arg108Ter) rs772471533
NM_000211.5(ITGB2):c.591G>A (p.Glu197=) rs768833543
NM_000211.5(ITGB2):c.715G>A (p.Ala239Thr) rs179363873

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