ClinVar Miner

Variants in gene CNGB3 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
421 20 3 24 13 0 4 38

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 2 17 2 1 1
likely pathogenic 17 0 2 0 0
uncertain significance 2 2 0 7 7
likely benign 1 0 7 1 7
benign 1 0 7 7 0

All variants with conflicting interpretations #

Total variants: 38
Download table as spreadsheet
NM_019098.4(CNGB3):c.1006G>T (p.Glu336Ter) rs373862340
NM_019098.4(CNGB3):c.1063C>T (p.Arg355Ter) rs764742792
NM_019098.4(CNGB3):c.1098_1101dup (p.Ala368Ter) rs1057518098
NM_019098.4(CNGB3):c.1119G>A (p.Trp373Ter) rs786204762
NM_019098.4(CNGB3):c.112C>T (p.Gln38Ter) rs786204498
NM_019098.4(CNGB3):c.1148del (p.Thr383fs) rs397515360
NM_019098.4(CNGB3):c.1208G>A rs147876778
NM_019098.4(CNGB3):c.1304C>T (p.Ser435Phe) rs121918344
NM_019098.4(CNGB3):c.1366del (p.Arg456fs) rs1057516878
NM_019098.4(CNGB3):c.1397T>C (p.Met466Thr) rs35010099
NM_019098.4(CNGB3):c.1405T>G (p.Tyr469Asp) rs35365413
NM_019098.4(CNGB3):c.1439G>A (p.Arg480Gln) rs77277189
NM_019098.4(CNGB3):c.1480+1G>A rs1057516825
NM_019098.4(CNGB3):c.1492T>A (p.Leu498Met) rs115246141
NM_019098.4(CNGB3):c.1510A>G (p.Thr504Ala) rs140286824
NM_019098.4(CNGB3):c.1578+1G>A rs372006750
NM_019098.4(CNGB3):c.1579-1G>A rs1057516504
NM_019098.4(CNGB3):c.1781+1del rs1554607546
NM_019098.4(CNGB3):c.1810C>T (p.Arg604Ter) rs200805087
NM_019098.4(CNGB3):c.1833C>T (p.His611=) rs368787128
NM_019098.4(CNGB3):c.1898A>G (p.Asp633Gly) rs139337746
NM_019098.4(CNGB3):c.2007A>G (p.Lys669=) rs147991883
NM_019098.4(CNGB3):c.212-6del rs745969238
NM_019098.4(CNGB3):c.2308G>T (p.Val770Phe) rs78239264
NM_019098.4(CNGB3):c.2415A>C (p.Glu805Asp) rs186448979
NM_019098.4(CNGB3):c.339-17dup rs200792506
NM_019098.4(CNGB3):c.354G>T (p.Pro118=) rs75858066
NM_019098.4(CNGB3):c.391C>T (p.Gln131Ter) rs786204492
NM_019098.4(CNGB3):c.467C>T (p.Ser156Phe) rs139207764
NM_019098.4(CNGB3):c.474C>T (p.Pro158=) rs151230930
NM_019098.4(CNGB3):c.494-21dup rs36008065
NM_019098.4(CNGB3):c.607C>T (p.Arg203Ter) rs267606739
NM_019098.4(CNGB3):c.644-1G>C rs201794629
NM_019098.4(CNGB3):c.646C>T (p.Arg216Ter) rs768345097
NM_019098.4(CNGB3):c.886_896delinsT (p.Thr296fs) rs886063161
NM_019098.4(CNGB3):c.912C>T (p.Val304=) rs117806701
NM_019098.4(CNGB3):c.913G>A (p.Ala305Thr) rs144637286
NM_019098.5(CNGB3):c.2158CAAAAAGAAAATGAAGATAAA[1] (p.720QKENEDK[1]) rs746549330

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