ClinVar Miner

Variants in gene WHRN 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
94 54 0 15 19 0 1 34

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.

likely pathogenic uncertain significance likely benign benign
likely pathogenic 0 1 0 0
uncertain significance 1 0 11 9
likely benign 0 11 0 15
benign 0 9 15 0

All variants with conflicting interpretations #

Total variants: 34
Download table as spreadsheet
HGVS dbSNP
NM_015404.3(WHRN):c.1048C>T (p.Arg350Trp) rs142990800
NM_015404.3(WHRN):c.1075G>A (p.Val359Ile) rs147500559
NM_015404.3(WHRN):c.1166+18G>A rs149202009
NM_015404.3(WHRN):c.117G>A (p.Val39=) rs2297815
NM_015404.3(WHRN):c.1318G>A (p.Ala440Thr) rs4978584
NM_015404.3(WHRN):c.1352G>A (p.Gly451Asp) rs117352600
NM_015404.3(WHRN):c.1353T>C (p.Gly451=) rs4979387
NM_015404.3(WHRN):c.1365T>C (p.Ser455=) rs111033459
NM_015404.3(WHRN):c.1417-8G>A rs202228471
NM_015404.3(WHRN):c.1454C>T (p.Pro485Leu) rs79572315
NM_015404.3(WHRN):c.1515G>A (p.Ala505=) rs34252199
NM_015404.3(WHRN):c.1608C>G (p.Thr536=) rs139337135
NM_015404.3(WHRN):c.1627-12G>A rs2274160
NM_015404.3(WHRN):c.1627-5T>A rs187221008
NM_015404.3(WHRN):c.1684C>G (p.Pro562Ala) rs12339210
NM_015404.3(WHRN):c.1838T>C (p.Met613Thr) rs942519
NM_015404.3(WHRN):c.1887G>A (p.Pro629=) rs143443833
NM_015404.3(WHRN):c.191C>A (p.Ala64Asp) rs146655362
NM_015404.3(WHRN):c.1992G>A (p.Pro664=) rs142568702
NM_015404.3(WHRN):c.2046G>C (p.Arg682=) rs35258467
NM_015404.3(WHRN):c.2112G>T (p.Leu704=) rs535492772
NM_015404.3(WHRN):c.2203G>A (p.Val735Ile) rs373552185
NM_015404.3(WHRN):c.2283C>T (p.Ser761=) rs34963246
NM_015404.3(WHRN):c.229A>T (p.Thr77Ser) rs56204273
NM_015404.3(WHRN):c.2322C>T (p.Ser774=) rs55966714
NM_015404.3(WHRN):c.2348T>C (p.Val783Ala) rs2274159
NM_015404.3(WHRN):c.2388C>A (p.Asn796Lys) rs2274158
NM_015404.3(WHRN):c.2439G>A (p.Thr813=) rs61743618
NM_015404.3(WHRN):c.2586C>A (p.His862Gln) rs117592152
NM_015404.3(WHRN):c.33C>G (p.Ser11Arg) rs45527543
NM_015404.3(WHRN):c.667C>T (p.Arg223Cys) rs76593842
NM_015404.3(WHRN):c.668G>A (p.Arg223His) rs146273185
NM_015404.3(WHRN):c.764G>A (p.Gly255Asp) rs79509430
NM_015404.4(WHRN):c.1850C>T (p.Ser617Leu)

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.