ClinVar Miner

Variants in gene CHRNB2 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 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
123 13 2 12 6 0 1 20

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 1 0 0 0
likely pathogenic 1 0 1 0 0
uncertain significance 0 1 0 5 2
likely benign 0 0 5 0 11
benign 0 0 2 11 0

All variants with conflicting interpretations #

Total variants: 20
Download table as spreadsheet
HGVS dbSNP
NM_000748.3(CHRNB2):c.109C>T (p.Leu37=) rs71651693
NM_000748.3(CHRNB2):c.1128C>T (p.Leu376=) rs113116986
NM_000748.3(CHRNB2):c.1191G>C (p.Gln397His) rs55685423
NM_000748.3(CHRNB2):c.1233G>A (p.Ala411=) rs55857552
NM_000748.3(CHRNB2):c.1234G>A (p.Gly412Ser) rs774449832
NM_000748.3(CHRNB2):c.1235G>A (p.Gly412Asp) rs112585933
NM_000748.3(CHRNB2):c.1236C>T (p.Gly412=) rs767533378
NM_000748.3(CHRNB2):c.1291G>C (p.Val431Leu) rs1064796396
NM_000748.3(CHRNB2):c.1338+14G>T rs4845378
NM_000748.3(CHRNB2):c.1378C>G (p.Arg460Gly) rs202079239
NM_000748.3(CHRNB2):c.1432T>C (p.Phe478Leu) rs79137415
NM_000748.3(CHRNB2):c.1482A>G (p.Ser494=) rs8192486
NM_000748.3(CHRNB2):c.1485C>T (p.Asp495=) rs144813907
NM_000748.3(CHRNB2):c.150C>T (p.Thr50=) rs149921259
NM_000748.3(CHRNB2):c.210+9A>G rs3926124
NM_000748.3(CHRNB2):c.772C>T (p.Leu258=) rs201514209
NM_000748.3(CHRNB2):c.77C>T (p.Thr26Met) rs71651692
NM_000748.3(CHRNB2):c.859G>A (p.Val287Met) rs74315291
NM_000748.3(CHRNB2):c.859G>C (p.Val287Leu) rs74315291
NM_000748.3(CHRNB2):c.923T>C (p.Val308Ala) rs281865070

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.