ClinVar Miner

Variants in gene CNGB1 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 Variants with at least 2 submissions 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 kind of conflict
151 13 0 11 15 0 6 30

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 3 0 0
likely pathogenic 2 0 4 0 0
uncertain significance 3 4 0 9 7
likely benign 0 0 9 0 9
benign 0 0 7 9 0

All variants with conflicting interpretations #

Total variants: 30
Download table as spreadsheet
NM_001297.4(CNGB1):c.-47A>G rs186471030
NM_001297.4(CNGB1):c.1101_1103dupGGA (p.Glu371_Val372insGlu) rs141566950
NM_001297.4(CNGB1):c.1122-15C>T rs2303778
NM_001297.4(CNGB1):c.1580C>T (p.Ala527Val) rs78292723
NM_001297.4(CNGB1):c.1589C>G (p.Pro530Arg) rs201553871
NM_001297.4(CNGB1):c.159+14C>T rs199591689
NM_001297.4(CNGB1):c.1626C>T (p.Thr542=) rs148735841
NM_001297.4(CNGB1):c.1644T>C (p.Asp548=) rs2161703
NM_001297.4(CNGB1):c.1958-14A>C rs3991715
NM_001297.4(CNGB1):c.2218-12C>T rs483053
NM_001297.4(CNGB1):c.2233C>A (p.Leu745Ile) rs10459809
NM_001297.4(CNGB1):c.2285G>A (p.Arg762His) rs760373259
NM_001297.4(CNGB1):c.2370-9C>T rs374373659
NM_001297.4(CNGB1):c.2664C>A (p.Ala888=) rs413562
NM_001297.4(CNGB1):c.2732A>G (p.Lys911Arg) rs2303785
NM_001297.4(CNGB1):c.2747G>A (p.Arg916His) rs137853902
NM_001297.4(CNGB1):c.2853C>A (p.Asp951Glu) rs7190978
NM_001297.4(CNGB1):c.2893-7G>A rs749199721
NM_001297.4(CNGB1):c.2957A>T (p.Asn986Ile) rs201162411
NM_001297.4(CNGB1):c.3115G>A (p.Gly1039Arg) rs148999583
NM_001297.4(CNGB1):c.3135C>T (p.Asn1045=) rs539304668
NM_001297.4(CNGB1):c.327C>T (p.Gly109=) rs17821448
NM_001297.4(CNGB1):c.3556C>T (p.Pro1186Ser) rs7190372
NM_001297.4(CNGB1):c.412+8C>A rs185727761
NM_001297.4(CNGB1):c.413-1G>A rs189234741
NM_001297.4(CNGB1):c.606A>G (p.Glu202=) rs76788887
NM_001297.4(CNGB1):c.634A>T (p.Thr212Ser) rs192628905
NM_001297.4(CNGB1):c.712G>A (p.Gly238Ser) rs61745888
NM_001297.4(CNGB1):c.838-4G>T rs375539469
NM_001297.4(CNGB1):c.952C>T (p.Gln318Ter) rs372504780

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.