ClinVar Miner

Variants in gene ITGA7 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
698 83 0 28 11 0 0 38

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 7 0 0 0
likely pathogenic 7 0 0 0 0
uncertain significance 0 0 0 10 2
likely benign 0 0 10 0 21
benign 0 0 2 21 0

All variants with conflicting interpretations #

Total variants: 38
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_002206.3(ITGA7):c.415-10C>T rs11171661 0.06475
NM_002206.3(ITGA7):c.810G>A (p.Gly270=) rs3847675 0.05834
NM_002206.3(ITGA7):c.3018C>G (p.Ser1006=) rs17117883 0.05018
NM_002206.3(ITGA7):c.824G>A (p.Arg275His) rs74867235 0.03438
NM_002206.3(ITGA7):c.1617G>T (p.Gln539His) rs61733963 0.01753
NM_002206.3(ITGA7):c.3144G>C (p.Gly1048=) rs62648071 0.01749
NM_002206.3(ITGA7):c.1965T>C (p.Cys655=) rs7971022 0.01436
NM_002206.3(ITGA7):c.3031T>C (p.Leu1011=) rs17117879 0.01435
NM_001144997.2(ITGA7):c.38C>T (p.Thr13Ile) rs11171663 0.00943
NM_002206.3(ITGA7):c.1281+13G>A rs143895796 0.00701
NM_002206.3(ITGA7):c.459C>G (p.Ile153Met) rs149000088 0.00672
NM_002206.3(ITGA7):c.1609C>T (p.Arg537Trp) rs61733050 0.00636
NM_002206.3(ITGA7):c.3384C>T (p.Pro1128=) rs148170949 0.00509
NM_002206.3(ITGA7):c.2644G>A (p.Glu882Lys) rs144983062 0.00347
NM_002206.3(ITGA7):c.2701A>G (p.Ile901Val) rs113651939 0.00295
NM_002206.3(ITGA7):c.2569G>A (p.Gly857Ser) rs149081471 0.00270
NM_002206.3(ITGA7):c.2958+16G>A rs200586885 0.00207
NM_002206.3(ITGA7):c.2737C>T (p.Arg913Trp) rs140030984 0.00169
NM_002206.3(ITGA7):c.791-7C>T rs144699549 0.00087
NM_002206.3(ITGA7):c.1606C>T (p.Leu536Phe) rs149028067 0.00083
NM_002206.3(ITGA7):c.2651A>T (p.Glu884Val) rs149963176 0.00081
NM_002206.3(ITGA7):c.1828G>A (p.Gly610Arg) rs150583010 0.00071
NM_002206.3(ITGA7):c.1722C>A (p.Ala574=) rs142311782 0.00066
NM_002206.3(ITGA7):c.340A>G (p.Met114Val) rs146565340 0.00063
NM_002206.3(ITGA7):c.537G>A (p.Gly179=) rs145463677 0.00061
NM_002206.3(ITGA7):c.1317C>T (p.Phe439=) rs200714716 0.00019
NM_002206.3(ITGA7):c.3263G>A (p.Arg1088Gln) rs754655315 0.00005
NM_002206.3(ITGA7):c.1810C>T (p.Arg604Ter) rs141365537 0.00003
NM_002206.3(ITGA7):c.1705C>T (p.Arg569Ter) rs201217202 0.00002
NM_002206.3(ITGA7):c.247C>T (p.Gln83Ter) rs1055839662 0.00001
NM_002206.3(ITGA7):c.2779C>T (p.Arg927Trp) rs760407686 0.00001
NM_002206.3(ITGA7):c.1088dup (p.His364fs) rs587780362
NM_002206.3(ITGA7):c.1410-3del rs773251917
NM_002206.3(ITGA7):c.1446_1453del (p.Ile483fs) rs1474512248
NM_002206.3(ITGA7):c.226C>T (p.Gln76Ter) rs2136073462
NM_002206.3(ITGA7):c.285G>T (p.Pro95=) rs17854601
NM_002206.3(ITGA7):c.3075C>G (p.Tyr1025Ter) rs754699820
NM_002206.3(ITGA7):c.671-5C>A rs180841797

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