ClinVar Miner

Variants in gene CEP135 with conflicting interpretations

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
377 26 0 20 16 0 0 33

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 15 4
likely benign 0 0 15 0 18
benign 0 0 4 18 0

All variants with conflicting interpretations #

Total variants: 33
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_025009.5(CEP135):c.2305A>C (p.Ile769Leu) rs3214045 0.20167
NM_025009.5(CEP135):c.335G>A (p.Arg112His) rs77591659 0.02766
NM_025009.5(CEP135):c.2976C>G (p.Thr992=) rs35143702 0.02394
NM_025009.5(CEP135):c.3075T>C (p.Asn1025=) rs61753870 0.02389
NM_025009.5(CEP135):c.1220G>A (p.Ser407Asn) rs62641664 0.01474
NM_025009.5(CEP135):c.2724A>G (p.Arg908=) rs113687114 0.01034
NM_025009.5(CEP135):c.2990C>T (p.Ser997Leu) rs146076380 0.00345
NM_025009.5(CEP135):c.1254A>G (p.Arg418=) rs62641662 0.00274
NM_025009.5(CEP135):c.2065A>G (p.Ile689Val) rs139407231 0.00252
NM_025009.5(CEP135):c.3265T>A (p.Leu1089Ile) rs76659072 0.00248
NM_025009.5(CEP135):c.638T>C (p.Val213Ala) rs150331261 0.00236
NM_025009.5(CEP135):c.2971A>G (p.Met991Val) rs115646074 0.00232
NM_025009.5(CEP135):c.473-12C>T rs77889786 0.00231
NM_025009.5(CEP135):c.2755A>C (p.Arg919=) rs151170797 0.00202
NM_025009.5(CEP135):c.636A>C (p.Glu212Asp) rs76941356 0.00181
NM_025009.5(CEP135):c.2767G>A (p.Glu923Lys) rs145959811 0.00158
NM_025009.5(CEP135):c.1740A>G (p.Arg580=) rs59759676 0.00155
NM_025009.5(CEP135):c.64C>T (p.Arg22Cys) rs150681316 0.00107
NM_025009.5(CEP135):c.2806A>G (p.Ile936Val) rs139474852 0.00076
NM_025009.5(CEP135):c.2802+4A>G rs199594373 0.00052
NM_025009.5(CEP135):c.700-10A>G rs369136062 0.00044
NM_025009.5(CEP135):c.993A>T (p.Arg331Ser) rs140748251 0.00027
NM_025009.5(CEP135):c.142C>T (p.Arg48Trp) rs202084972 0.00024
NM_025009.5(CEP135):c.3320G>A (p.Arg1107Gln) rs745603844 0.00013
NM_025009.5(CEP135):c.114C>T (p.Ser38=) rs780365984 0.00007
NM_025009.5(CEP135):c.203T>C (p.Leu68Ser) rs147697562 0.00007
NM_025009.5(CEP135):c.874C>T (p.Arg292Ter) rs752140135 0.00006
NM_025009.5(CEP135):c.1644_1646del (p.Ala549del) rs776271846
NM_025009.5(CEP135):c.297C>T (p.His99=) rs115408010
NM_025009.5(CEP135):c.3144_3147del (p.His1048fs)
NM_025009.5(CEP135):c.369A>G (p.Gln123=) rs147451921
NM_025009.5(CEP135):c.472+18C>T rs73155552
NM_025009.5(CEP135):c.998AAG[2] (p.Glu335del) rs374626758

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