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 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
303 56 0 14 22 0 0 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.

pathogenic likely pathogenic uncertain significance likely benign benign
pathogenic 0 1 0 0 0
likely pathogenic 1 0 0 0 0
uncertain significance 0 0 0 22 2
likely benign 0 0 22 0 13
benign 0 0 2 13 0

All variants with conflicting interpretations #

Total variants: 34
Download table as spreadsheet
NM_015404.4(WHRN):c.1048C>T (p.Arg350Trp) rs142990800
NM_015404.4(WHRN):c.1126G>T (p.Ala376Ser) rs545251395
NM_015404.4(WHRN):c.1166+18G>A rs149202009
NM_015404.4(WHRN):c.1365T>C (p.Ser455=) rs111033459
NM_015404.4(WHRN):c.1417-8G>A rs202228471
NM_015404.4(WHRN):c.1454C>T (p.Pro485Leu) rs79572315
NM_015404.4(WHRN):c.1455G>A (p.Pro485=) rs141807746
NM_015404.4(WHRN):c.1627-5T>A rs187221008
NM_015404.4(WHRN):c.1632T>C (p.Thr544=) rs759107735
NM_015404.4(WHRN):c.1678G>A (p.Ala560Thr) rs182072601
NM_015404.4(WHRN):c.1696G>C (p.Val566Leu) rs189654215
NM_015404.4(WHRN):c.1716C>T (p.Thr572=) rs760471578
NM_015404.4(WHRN):c.1887G>A (p.Pro629=) rs143443833
NM_015404.4(WHRN):c.191C>A (p.Ala64Asp) rs146655362
NM_015404.4(WHRN):c.1992G>A (p.Pro664=) rs142568702
NM_015404.4(WHRN):c.19G>C (p.Gly7Arg) rs572671060
NM_015404.4(WHRN):c.2046G>C (p.Arg682=) rs35258467
NM_015404.4(WHRN):c.2112G>T (p.Leu704=) rs535492772
NM_015404.4(WHRN):c.2193C>T (p.Ser731=) rs147358257
NM_015404.4(WHRN):c.2203G>A (p.Val735Ile) rs373552185
NM_015404.4(WHRN):c.2237-10C>G rs200131193
NM_015404.4(WHRN):c.229A>T (p.Thr77Ser) rs56204273
NM_015404.4(WHRN):c.2333G>A (p.Arg778Gln) rs727505188
NM_015404.4(WHRN):c.2438C>T (p.Thr813Met)
NM_015404.4(WHRN):c.2439G>A (p.Thr813=) rs61743618
NM_015404.4(WHRN):c.2644C>A (p.Arg882Ser) rs150586098
NM_015404.4(WHRN):c.33C>G (p.Ser11Arg) rs45527543
NM_015404.4(WHRN):c.376G>A (p.Ala126Thr)
NM_015404.4(WHRN):c.667C>T (p.Arg223Cys) rs76593842
NM_015404.4(WHRN):c.75C>T (p.Gly25=) rs771128098
NM_015404.4(WHRN):c.764G>A (p.Gly255Asp) rs79509430
NM_015404.4(WHRN):c.856dup (p.Asp286fs) rs1064794551
NM_015404.4(WHRN):c.995G>A (p.Arg332Gln) rs139193948
NM_015404.4(WHRN):c.998G>A (p.Ser333Asn) rs200073414

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