ClinVar Miner

Variants in gene ITGB4 with conflicting interpretations

See also:
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
976 55 0 23 12 0 1 34

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 4 0 0 0
likely pathogenic 4 0 1 0 0
uncertain significance 0 1 0 12 2
likely benign 0 0 12 0 19
benign 0 0 2 19 0

All variants with conflicting interpretations #

Total variants: 34
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000213.5(ITGB4):c.513T>C (p.Phe171=) rs148048907 0.01650
NM_000213.5(ITGB4):c.2730C>T (p.Ala910=) rs61735292 0.00454
NM_000213.5(ITGB4):c.2207G>T (p.Cys736Phe) rs143203816 0.00370
NM_000213.5(ITGB4):c.2115C>A (p.Asp705Glu) rs62639300 0.00357
NM_000213.5(ITGB4):c.2701C>T (p.Leu901Phe) rs145644205 0.00272
NM_000213.5(ITGB4):c.1434G>T (p.Gln478His) rs8079267 0.00227
NM_000213.5(ITGB4):c.2929C>T (p.Arg977Cys) rs145976111 0.00214
NM_000213.5(ITGB4):c.3112-3C>T rs151033645 0.00138
NM_000213.5(ITGB4):c.3598G>A (p.Gly1200Arg) rs75129664 0.00136
NM_000213.5(ITGB4):c.1345G>A (p.Gly449Ser) rs147963396 0.00135
NM_000213.5(ITGB4):c.2638G>A (p.Asp880Asn) rs139092703 0.00086
NM_000213.5(ITGB4):c.1428C>T (p.Cys476=) rs149030156 0.00081
NM_000213.5(ITGB4):c.3427A>G (p.Ile1143Val) rs149481974 0.00056
NM_000213.5(ITGB4):c.2531G>T (p.Arg844Leu) rs140819116 0.00051
NM_000213.5(ITGB4):c.1666C>T (p.Arg556Cys) rs150166497 0.00038
NM_000213.5(ITGB4):c.2108A>G (p.Lys703Arg) rs56119997 0.00035
NM_000213.5(ITGB4):c.1056G>A (p.Ser352=) rs187527294 0.00028
NM_000213.5(ITGB4):c.495C>T (p.Ser165=) rs75092172 0.00020
NM_000213.5(ITGB4):c.1242C>A (p.Ala414=) rs745527527 0.00015
NM_000213.5(ITGB4):c.210G>A (p.Ala70=) rs200500313 0.00014
NM_000213.5(ITGB4):c.2834G>A (p.Arg945Gln) rs141953294 0.00006
NM_000213.5(ITGB4):c.3221G>A (p.Arg1074His) rs147026529 0.00004
NM_000213.5(ITGB4):c.182G>A (p.Cys61Tyr) rs80338755 0.00001
NM_000213.5(ITGB4):c.2009G>A (p.Arg670His) rs149659118
NM_000213.5(ITGB4):c.2422G>A (p.Ala808Thr) rs147480547
NM_000213.5(ITGB4):c.2521G>A (p.Ala841Thr)
NM_000213.5(ITGB4):c.2550+1G>A rs545619665
NM_000213.5(ITGB4):c.2783-2A>G rs758551913
NM_000213.5(ITGB4):c.3265G>C (p.Gly1089Arg)
NM_000213.5(ITGB4):c.57C>T (p.Ser19=)
NM_000213.5(ITGB4):c.599C>T (p.Pro200Leu) rs148770294
NM_000213.5(ITGB4):c.884_885del (p.Thr295fs)

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