ClinVar Miner

Variants in gene COL9A3 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
1039 143 0 34 33 0 0 64

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 2 0 0 0
likely pathogenic 2 0 0 0 0
uncertain significance 0 0 0 31 5
likely benign 0 0 31 0 32
benign 0 0 5 32 0

All variants with conflicting interpretations #

Total variants: 64
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001853.4(COL9A3):c.280C>T (p.Pro94Ser) rs35908728 0.04973
NM_001853.4(COL9A3):c.*9G>A rs116108376 0.00986
NM_001853.4(COL9A3):c.308G>A (p.Arg103Gln) rs142639450 0.00847
NM_001853.4(COL9A3):c.520-6C>T rs45476191 0.00844
NM_001853.4(COL9A3):c.147+219G>A rs535876836 0.00759
NM_001853.4(COL9A3):c.309+11G>A rs146033082 0.00541
NM_001853.4(COL9A3):c.209C>T (p.Pro70Leu) rs143307835 0.00454
NM_001853.4(COL9A3):c.410T>C (p.Leu137Pro) rs147947060 0.00389
NM_001853.4(COL9A3):c.1864+12C>T rs78381731 0.00287
NM_001853.4(COL9A3):c.755G>A (p.Arg252Gln) rs139573483 0.00231
NM_001853.4(COL9A3):c.1726G>A (p.Ala576Thr) rs116005499 0.00180
NM_001853.4(COL9A3):c.79-7G>A rs200155296 0.00180
NM_001853.4(COL9A3):c.468C>T (p.Pro156=) rs137979802 0.00169
NM_001853.4(COL9A3):c.791C>T (p.Ala264Val) rs140330666 0.00157
NM_001853.4(COL9A3):c.237G>A (p.Pro79=) rs141960487 0.00142
NM_001853.4(COL9A3):c.19T>A (p.Cys7Ser) rs770930161 0.00129
NM_001853.4(COL9A3):c.891C>T (p.Ser297=) rs142412708 0.00116
NM_001853.4(COL9A3):c.1776C>T (p.Pro592=) rs138477294 0.00113
NM_001853.4(COL9A3):c.388G>A (p.Gly130Ser) rs139401633 0.00096
NM_001853.4(COL9A3):c.1918G>A (p.Glu640Lys) rs553583384 0.00089
NM_001853.4(COL9A3):c.110C>T (p.Pro37Leu) rs373605761 0.00088
NM_001853.4(COL9A3):c.1242C>T (p.Pro414=) rs150153886 0.00085
NM_001853.4(COL9A3):c.847-16C>T rs188924459 0.00069
NM_001853.4(COL9A3):c.739-8C>T rs372090537 0.00060
NM_001853.4(COL9A3):c.779C>T (p.Ala260Val) rs147134081 0.00031
NM_001853.4(COL9A3):c.1135G>A (p.Gly379Ser) rs201250184 0.00030
NM_001853.4(COL9A3):c.1258C>G (p.Gln420Glu) rs138648117 0.00029
NM_001853.4(COL9A3):c.1756A>C (p.Thr586Pro) rs145821912 0.00028
NM_001853.4(COL9A3):c.1708T>C (p.Ser570Pro) rs199886210 0.00021
NM_001853.4(COL9A3):c.481C>T (p.His161Tyr) rs150207068 0.00019
NM_001853.4(COL9A3):c.1730G>A (p.Arg577Gln) rs140377811 0.00016
NM_001853.4(COL9A3):c.763C>T (p.Pro255Ser) rs201294093 0.00016
NM_001853.4(COL9A3):c.331C>T (p.Pro111Ser) rs374503994 0.00014
NM_001853.4(COL9A3):c.1663C>T (p.Arg555Trp) rs201783992 0.00013
NM_001853.4(COL9A3):c.1735C>A (p.Pro579Thr) rs758064613 0.00013
NM_001853.4(COL9A3):c.1932C>T (p.Pro644=) rs550889206 0.00012
NM_001853.4(COL9A3):c.1245C>A (p.Gly415=) rs73598379 0.00011
NM_001853.4(COL9A3):c.245C>T (p.Pro82Leu) rs199653123 0.00011
NM_001853.4(COL9A3):c.1339G>A (p.Asp447Asn) rs200153638 0.00010
NM_001853.4(COL9A3):c.537G>A (p.Pro179=) rs530176764 0.00009
NM_001853.4(COL9A3):c.332C>T (p.Pro111Leu) rs368744467 0.00008
NM_001853.4(COL9A3):c.931G>A (p.Val311Met) rs546308741 0.00008
NM_001853.4(COL9A3):c.1624G>A (p.Ala542Thr) rs190167637 0.00007
NM_001853.4(COL9A3):c.1748G>A (p.Arg583His) rs201219004 0.00006
NM_001853.4(COL9A3):c.1095G>A (p.Glu365=) rs776395616 0.00003
NM_001853.4(COL9A3):c.1282G>A (p.Asp428Asn) rs562245450 0.00002
NM_001853.4(COL9A3):c.325C>T (p.Pro109Ser) rs774823793 0.00002
NM_001853.4(COL9A3):c.1009-12C>A rs752646714 0.00001
NM_001853.4(COL9A3):c.1054-12C>T rs1462378174 0.00001
NM_001853.4(COL9A3):c.1263C>T (p.Gly421=) rs776017580 0.00001
NM_001853.4(COL9A3):c.1881C>T (p.Pro627=) rs372602506 0.00001
NM_001853.4(COL9A3):c.519+6C>T rs1273555684 0.00001
NM_001853.4(COL9A3):c.72G>A (p.Gly24=) rs777240987 0.00001
NM_001853.4(COL9A3):c.1215+36dup rs397840562
NM_001853.4(COL9A3):c.1729C>T (p.Arg577Ter) rs1201247953
NM_001853.4(COL9A3):c.1739dup (p.Gly581fs) rs764718355
NM_001853.4(COL9A3):c.1816G>A (p.Ala606Thr) rs142792529
NM_001853.4(COL9A3):c.182C>T (p.Pro61Leu) rs149582526
NM_001853.4(COL9A3):c.255+18_255+20dup rs377557569
NM_001853.4(COL9A3):c.665C>T (p.Pro222Leu) rs202005710
NM_001853.4(COL9A3):c.685-4G>T rs57739618
NM_001853.4(COL9A3):c.701G>C (p.Arg234Pro) rs150885737
NM_001853.4(COL9A3):c.846C>T (p.Leu282=)
NM_001853.4(COL9A3):c.93CGGCCCCCC[1] (p.33PPG[2]) rs544133282

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