ClinVar Miner

Variants in gene CNGA3 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
265 20 0 14 4 0 7 23

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 10 5 0 0
likely pathogenic 10 0 3 0 0
uncertain significance 5 3 0 4 1
likely benign 0 0 4 0 4
benign 0 0 1 4 0

All variants with conflicting interpretations #

Total variants: 23
Download table as spreadsheet
HGVS dbSNP
NM_001298.3(CNGA3):c.101+1G>A rs147118493
NM_001298.3(CNGA3):c.1034A>G (p.His345Arg) rs780411290
NM_001298.3(CNGA3):c.107_110del (p.His36fs) rs749036398
NM_001298.3(CNGA3):c.1279C>T (p.Arg427Cys) rs141386891
NM_001298.3(CNGA3):c.1306C>T (p.Arg436Trp) rs104893621
NM_001298.3(CNGA3):c.143C>T (p.Pro48Leu) rs62156348
NM_001298.3(CNGA3):c.1569C>T (p.Asn523=) rs61752503
NM_001298.3(CNGA3):c.1641C>A (p.Phe547Leu) rs104893617
NM_001298.3(CNGA3):c.1669G>A (p.Gly557Arg) rs104893615
NM_001298.3(CNGA3):c.1687C>T (p.Arg563Cys) rs150153987
NM_001298.3(CNGA3):c.1688G>A (p.Arg563His) rs552069173
NM_001298.3(CNGA3):c.198C>T (p.Thr66=) rs139544302
NM_001298.3(CNGA3):c.284C>T (p.Pro95Leu) rs114108462
NM_001298.3(CNGA3):c.473C>T (p.Ala158Val) rs138934573
NM_001298.3(CNGA3):c.572G>A (p.Cys191Tyr)
NM_001298.3(CNGA3):c.592G>A (p.Glu198Lys) rs2271041
NM_001298.3(CNGA3):c.682G>A (p.Glu228Lys) rs147415641
NM_001298.3(CNGA3):c.740C>T (p.Thr247Met) rs148616345
NM_001298.3(CNGA3):c.811C>G (p.Pro271Ala) rs149802213
NM_001298.3(CNGA3):c.847C>T (p.Arg283Trp) rs104893613
NM_001298.3(CNGA3):c.934ATC[2] (p.Ile314del) rs777878533
NM_001298.3(CNGA3):c.955T>C (p.Cys319Arg) rs753625117
NM_001298.3(CNGA3):c.967G>C (p.Ala323Pro) rs146195955

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