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 Variants with at least 2 submissions 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 kind of conflict
128 19 0 21 1 1 0 22

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.

uncertain significance likely benign benign risk factor
uncertain significance 0 1 0 0
likely benign 1 0 21 1
benign 0 21 0 1
risk factor 0 1 1 0

All variants with conflicting interpretations #

Total variants: 22
Download table as spreadsheet
HGVS dbSNP
NM_001853.4(COL9A3):c.*9G>A rs116108376
NM_001853.4(COL9A3):c.110C>T (p.Pro37Leu) rs373605761
NM_001853.4(COL9A3):c.1327A>G (p.Ile443Val) rs79269394
NM_001853.4(COL9A3):c.1402-9C>T rs57754593
NM_001853.4(COL9A3):c.1427C>G (p.Pro476Arg) rs142066316
NM_001853.4(COL9A3):c.1476C>T (p.Pro492=) rs76559905
NM_001853.4(COL9A3):c.1816G>A (p.Ala606Thr) rs142792529
NM_001853.4(COL9A3):c.1896C>T (p.Asp632=) rs74830351
NM_001853.4(COL9A3):c.280C>T (p.Pro94Ser) rs35908728
NM_001853.4(COL9A3):c.307C>T (p.Arg103Trp) rs61734651
NM_001853.4(COL9A3):c.308G>A (p.Arg103Gln) rs142639450
NM_001853.4(COL9A3):c.410T>C (p.Leu137Pro) rs147947060
NM_001853.4(COL9A3):c.468C>T (p.Pro156=) rs137979802
NM_001853.4(COL9A3):c.50G>A (p.Gly17Glu) rs2294984
NM_001853.4(COL9A3):c.520-6C>T rs45476191
NM_001853.4(COL9A3):c.546C>T (p.Pro182=) rs150148851
NM_001853.4(COL9A3):c.685-4G>T rs57739618
NM_001853.4(COL9A3):c.887C>T (p.Pro296Leu) rs45628843
NM_001853.4(COL9A3):c.901-9T>C rs74506912
NM_001853.4(COL9A3):c.909G>A (p.Pro303=) rs2249903
NM_001853.4(COL9A3):c.93C>A (p.Pro31=) rs2273078
NM_001853.4(COL9A3):c.93_101CGGCCCCCC[1] (p.33_35PPG[2]) rs544133282

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