ClinVar Miner

Variants in gene COL9A2 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
795 133 0 24 27 0 3 52

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 3 2 0 0
likely pathogenic 3 0 2 0 0
uncertain significance 2 2 0 24 4
likely benign 0 0 24 0 21
benign 0 0 4 21 0

All variants with conflicting interpretations #

Total variants: 52
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001852.4(COL9A2):c.1741G>A (p.Val581Ile) rs3737821 0.06797
NM_001852.4(COL9A2):c.364-8C>T rs11207843 0.02379
NM_001852.4(COL9A2):c.737C>T (p.Thr246Met) rs2228565 0.02212
NM_001852.4(COL9A2):c.955-4C>G rs118135975 0.01678
NM_001852.4(COL9A2):c.363+20G>A rs140071740 0.00434
NM_001852.4(COL9A2):c.1870+9T>C rs139929272 0.00406
NM_001852.4(COL9A2):c.1323+18T>G rs186166446 0.00363
NM_001852.4(COL9A2):c.1007C>A (p.Ala336Glu) rs150075912 0.00242
NM_001852.4(COL9A2):c.1982C>T (p.Pro661Leu) rs150687987 0.00242
NM_001852.4(COL9A2):c.1981C>A (p.Pro661Thr) rs140041506 0.00230
NM_001852.4(COL9A2):c.1551C>T (p.Gly517=) rs140697524 0.00205
NM_001852.4(COL9A2):c.312C>T (p.Pro104=) rs144072834 0.00195
NM_001852.4(COL9A2):c.2019G>A (p.Ser673=) rs148008235 0.00168
NM_001852.4(COL9A2):c.250-7T>C rs146943340 0.00165
NM_001852.4(COL9A2):c.1576G>A (p.Val526Met) rs141556170 0.00111
NM_001852.4(COL9A2):c.1041C>T (p.Gly347=) rs138882727 0.00110
NM_001852.4(COL9A2):c.151-8T>C rs144162904 0.00105
NM_001852.4(COL9A2):c.775G>A (p.Gly259Ser) rs148362133 0.00093
NM_001852.4(COL9A2):c.364-13C>T rs201709352 0.00090
NM_001852.4(COL9A2):c.1621G>A (p.Ala541Thr) rs200325312 0.00069
NM_001852.4(COL9A2):c.458C>T (p.Pro153Leu) rs77937237 0.00051
NM_001852.4(COL9A2):c.927T>G (p.Asp309Glu) rs200290031 0.00046
NM_001852.4(COL9A2):c.376C>A (p.Pro126Thr) rs146903539 0.00043
NM_001852.4(COL9A2):c.2058C>T (p.Ile686=) rs115675008 0.00034
NM_001852.4(COL9A2):c.1162-3C>T rs368209124 0.00031
NM_001852.4(COL9A2):c.1400A>G (p.Gln467Arg) rs373264436 0.00025
NM_001852.4(COL9A2):c.249+19G>A rs117844512 0.00021
NM_001852.4(COL9A2):c.1962G>T (p.Leu654=) rs142867960 0.00019
NM_001852.4(COL9A2):c.1049A>G (p.Asp350Gly) rs765020486 0.00013
NM_001852.4(COL9A2):c.217C>T (p.Pro73Ser) rs375150574 0.00012
NM_001852.4(COL9A2):c.1781C>T (p.Thr594Met) rs567504204 0.00011
NM_001852.4(COL9A2):c.2036G>A (p.Arg679His) rs199897562 0.00011
NM_001852.4(COL9A2):c.919G>A (p.Gly307Ser) rs184896618 0.00008
NM_001852.4(COL9A2):c.1123C>G (p.Arg375Gly) rs375476174 0.00006
NM_001852.4(COL9A2):c.2059A>G (p.Lys687Glu) rs201847956 0.00006
NM_001852.4(COL9A2):c.682C>T (p.Pro228Ser) rs370064150 0.00005
NM_001852.4(COL9A2):c.792G>A (p.Pro264=) rs764969929 0.00004
NM_001852.4(COL9A2):c.186G>A (p.Pro62=) rs1085307973 0.00003
NM_001852.4(COL9A2):c.1287+5C>T rs997566626 0.00002
NM_001852.4(COL9A2):c.1857C>G (p.Pro619=) rs771660985 0.00002
NM_001852.4(COL9A2):c.1603+1G>A rs1322708706 0.00001
NM_001852.4(COL9A2):c.846+10C>T rs1045951380 0.00001
NM_001852.4(COL9A2):c.1242del (p.Gly415fs) rs756694568
NM_001852.4(COL9A2):c.1485del (p.Gly496fs) rs761748258
NM_001852.4(COL9A2):c.1506del (p.Asn503fs) rs1040081238
NM_001852.4(COL9A2):c.1604-26CTCC[5] rs3831927
NM_001852.4(COL9A2):c.1604-26CTCC[7] rs3831927
NM_001852.4(COL9A2):c.1753G>A (p.Val585Met) rs202153520
NM_001852.4(COL9A2):c.364-16A>G rs1979785
NM_001852.4(COL9A2):c.480G>A (p.Pro160=) rs745522018
NM_001852.4(COL9A2):c.519+39del rs137881116
NM_001852.4(COL9A2):c.747T>G (p.His249Gln) rs747499674

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