ClinVar Miner

Variants in gene CTC1 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
1211 85 0 30 34 0 3 60

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 1 0 0
likely pathogenic 7 0 2 0 0
uncertain significance 1 2 0 32 5
likely benign 0 0 32 0 23
benign 0 0 5 23 0

All variants with conflicting interpretations #

Total variants: 60
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_025099.6(CTC1):c.2458A>G (p.Ile820Val) rs3027238 0.94552
NM_025099.6(CTC1):c.3013A>G (p.Ile1005Val) rs3826543 0.77529
NM_025099.6(CTC1):c.990C>T (p.Asp330=) rs74506939 0.15238
NM_025099.6(CTC1):c.3153G>C (p.Arg1051=) rs3027242 0.01548
NM_025099.6(CTC1):c.126A>G (p.Val42=) rs116271319 0.01470
NM_025099.6(CTC1):c.1025A>G (p.Asp342Gly) rs78390421 0.01469
NM_025099.6(CTC1):c.2162G>C (p.Gly721Ala) rs62620189 0.01383
NM_025099.6(CTC1):c.1383G>A (p.Gln461=) rs145192682 0.01148
NM_025099.6(CTC1):c.2154T>A (p.Asp718Glu) rs62637610 0.00947
NM_025099.6(CTC1):c.2973T>C (p.Tyr991=) rs62637613 0.00946
NM_025099.6(CTC1):c.2478A>G (p.Thr826=) rs200643329 0.00136
NM_025099.6(CTC1):c.1720C>T (p.Pro574Ser) rs200440641 0.00117
NM_025099.6(CTC1):c.147C>T (p.Val49=) rs201492796 0.00114
NM_025099.6(CTC1):c.663T>C (p.Gly221=) rs138725914 0.00105
NM_025099.6(CTC1):c.1728G>A (p.Pro576=) rs78320653 0.00083
NM_025099.6(CTC1):c.1401C>T (p.Tyr467=) rs150409406 0.00079
NM_025099.6(CTC1):c.2192G>A (p.Arg731Gln) rs201891953 0.00048
NM_025099.6(CTC1):c.189C>G (p.Leu63=) rs188658691 0.00044
NM_025099.6(CTC1):c.3221+13G>C rs115684610 0.00041
NM_025099.6(CTC1):c.1734C>T (p.Ala578=) rs374985738 0.00036
NM_025099.6(CTC1):c.1207-4C>T rs369904656 0.00031
NM_025099.6(CTC1):c.1795C>T (p.Pro599Ser) rs183556317 0.00029
NM_025099.6(CTC1):c.2828C>T (p.Pro943Leu) rs376216833 0.00028
NM_025099.6(CTC1):c.1994T>G (p.Val665Gly) rs199473676 0.00026
NM_025099.6(CTC1):c.34-9T>G rs201195157 0.00024
NM_025099.6(CTC1):c.862G>A (p.Val288Met) rs201553464 0.00024
NM_025099.6(CTC1):c.3498G>A (p.Ser1166=) rs369209127 0.00022
NM_025099.6(CTC1):c.3515-10C>T rs200225342 0.00022
NM_025099.6(CTC1):c.1333C>T (p.Arg445Cys) rs201273283 0.00021
NM_025099.6(CTC1):c.2895C>T (p.Ala965=) rs373530008 0.00019
NM_025099.6(CTC1):c.597G>A (p.Thr199=) rs373023392 0.00019
NM_025099.6(CTC1):c.1958G>A (p.Arg653Gln) rs775779700 0.00009
NM_025099.6(CTC1):c.1946-6C>T rs369285521 0.00008
NM_025099.6(CTC1):c.195T>C (p.Tyr65=) rs764616648 0.00008
NM_025099.6(CTC1):c.2923A>G (p.Arg975Gly) rs199473678 0.00007
NM_025099.6(CTC1):c.3087C>T (p.Cys1029=) rs775991134 0.00007
NM_025099.6(CTC1):c.2472C>T (p.Pro824=) rs558802130 0.00006
NM_025099.6(CTC1):c.648-9C>T rs779778738 0.00005
NM_025099.6(CTC1):c.1542A>G (p.Leu514=) rs369802087 0.00004
NM_025099.6(CTC1):c.3222-4A>G rs562479062 0.00004
NM_025099.6(CTC1):c.2996_2997del (p.Pro999fs) rs761922947 0.00003
NM_025099.6(CTC1):c.3504C>T (p.Ile1168=) rs760547081 0.00003
NM_025099.6(CTC1):c.1360del (p.Glu454fs) rs748852501 0.00002
NM_025099.6(CTC1):c.2758+1G>T rs200609323 0.00002
NM_025099.6(CTC1):c.1078-13G>A rs200325111 0.00001
NM_025099.6(CTC1):c.1092C>T (p.Gly364=) rs761668228 0.00001
NM_025099.6(CTC1):c.1500C>T (p.Pro500=) rs761750183 0.00001
NM_025099.6(CTC1):c.1548G>A (p.Pro516=) rs781000475 0.00001
NM_025099.6(CTC1):c.233G>A (p.Arg78His) rs369627256 0.00001
NM_025099.6(CTC1):c.2386-10A>G rs746382653 0.00001
NM_025099.6(CTC1):c.2439G>A (p.Pro813=) rs200759730 0.00001
NM_025099.6(CTC1):c.2518C>T (p.Arg840Trp) rs373905859 0.00001
NM_025099.6(CTC1):c.3190A>G (p.Thr1064Ala) rs777357385 0.00001
NM_025099.6(CTC1):c.775G>A (p.Val259Met) rs387907080 0.00001
NM_025099.6(CTC1):c.2060+12G>A rs1987317835
NM_025099.6(CTC1):c.2253A>G (p.Gly751=) rs1164794062
NM_025099.6(CTC1):c.248G>C (p.Ser83Thr) rs78870822
NM_025099.6(CTC1):c.248_251dup (p.His84fs) rs745467709
NM_025099.6(CTC1):c.615C>T (p.Tyr205=) rs571035242
NM_025099.6(CTC1):c.833G>T (p.Gly278Val) rs768853291

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.