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
695 99 0 25 31 0 0 54

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 3 0 0 0
likely pathogenic 3 0 0 0 0
uncertain significance 0 0 0 31 2
likely benign 0 0 31 0 22
benign 0 0 2 22 0

All variants with conflicting interpretations #

Total variants: 54
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_015404.4(WHRN):c.229A>T (p.Thr77Ser) rs56204273 0.00613
NM_015404.4(WHRN):c.764G>A (p.Gly255Asp) rs79509430 0.00475
NM_015404.4(WHRN):c.1166+18G>A rs149202009 0.00456
NM_015404.4(WHRN):c.1454C>T (p.Pro485Leu) rs79572315 0.00364
NM_015404.4(WHRN):c.1365T>C (p.Ser455=) rs111033459 0.00294
NM_015404.4(WHRN):c.1627-5T>A rs187221008 0.00184
NM_015404.4(WHRN):c.1305C>T (p.Asn435=) rs150407952 0.00177
NM_015404.4(WHRN):c.1048C>T (p.Arg350Trp) rs142990800 0.00147
NM_015404.4(WHRN):c.19G>C (p.Gly7Arg) rs572671060 0.00141
NM_015404.4(WHRN):c.33C>G (p.Ser11Arg) rs45527543 0.00130
NM_015404.4(WHRN):c.1870C>T (p.Pro624Ser) rs140759343 0.00105
NM_015404.4(WHRN):c.234G>A (p.Leu78=) rs148785227 0.00099
NM_015404.4(WHRN):c.75C>T (p.Gly25=) rs771128098 0.00099
NM_015404.4(WHRN):c.1149C>T (p.Thr383=) rs149558159 0.00098
NM_015404.4(WHRN):c.1943C>A (p.Ser648Tyr) rs142653982 0.00098
NM_015404.4(WHRN):c.1992G>A (p.Pro664=) rs142568702 0.00084
NM_015404.4(WHRN):c.1135C>T (p.Arg379Trp) rs56059137 0.00083
NM_015404.4(WHRN):c.2438C>T (p.Thr813Met) rs143728180 0.00078
NM_015404.4(WHRN):c.2027C>G (p.Pro676Arg) rs139279977 0.00067
NM_015404.4(WHRN):c.1455G>A (p.Pro485=) rs141807746 0.00055
NM_015404.4(WHRN):c.191C>A (p.Ala64Asp) rs146655362 0.00053
NM_015404.4(WHRN):c.995G>A (p.Arg332Gln) rs139193948 0.00045
NM_015404.4(WHRN):c.1678G>A (p.Ala560Thr) rs182072601 0.00039
NM_015404.4(WHRN):c.1887G>A (p.Pro629=) rs143443833 0.00035
NM_015404.4(WHRN):c.2237-10C>G rs200131193 0.00026
NM_015404.4(WHRN):c.1608C>G (p.Thr536=) rs139337135 0.00024
NM_015404.4(WHRN):c.2354C>T (p.Thr785Ile) rs201555289 0.00019
NM_015404.4(WHRN):c.2112G>T (p.Leu704=) rs535492772 0.00011
NM_015404.4(WHRN):c.998G>A (p.Ser333Asn) rs200073414 0.00011
NM_015404.4(WHRN):c.1696G>C (p.Val566Leu) rs189654215 0.00010
NM_015404.4(WHRN):c.2384G>A (p.Arg795Gln) rs143763650 0.00010
NM_015404.4(WHRN):c.1713C>T (p.Ser571=) rs753605610 0.00008
NM_015404.4(WHRN):c.1716C>T (p.Thr572=) rs760471578 0.00007
NM_015404.4(WHRN):c.2093T>A (p.Val698Glu) rs201184915 0.00007
NM_015404.4(WHRN):c.1677C>T (p.Asn559=) rs138127153 0.00005
NM_015404.4(WHRN):c.1417-8G>A rs202228471 0.00004
NM_015404.4(WHRN):c.156G>A (p.Glu52=) rs201025266 0.00004
NM_015404.4(WHRN):c.2203G>A (p.Val735Ile) rs373552185 0.00004
NM_015404.4(WHRN):c.933A>C (p.Pro311=) rs569159249 0.00004
NM_015404.4(WHRN):c.1473C>T (p.Phe491=) rs886044241 0.00003
NM_015404.4(WHRN):c.1360G>A (p.Val454Ile) rs370178817 0.00002
NM_015404.4(WHRN):c.139A>G (p.Thr47Ala) rs556585167 0.00002
NM_015404.4(WHRN):c.1486C>T (p.Leu496=) rs758197889 0.00002
NM_015404.4(WHRN):c.1632T>C (p.Thr544=) rs759107735 0.00001
NM_015404.4(WHRN):c.2247G>A (p.Thr749=) rs143997286 0.00001
NM_015404.4(WHRN):c.376G>A (p.Ala126Thr) rs1444564272 0.00001
NM_015404.4(WHRN):c.559C>T (p.Gln187Ter) rs1230382008 0.00001
NM_015404.4(WHRN):c.-608_-601del rs150944893
NM_015404.4(WHRN):c.1126G>T (p.Ala376Ser) rs545251395
NM_015404.4(WHRN):c.1417-1G>A rs779760634
NM_015404.4(WHRN):c.2333G>A (p.Arg778Gln) rs727505188
NM_015404.4(WHRN):c.2644C>A (p.Arg882Ser) rs150586098
NM_015404.4(WHRN):c.2644C>T (p.Arg882Cys) rs150586098
NM_015404.4(WHRN):c.856dup (p.Asp286fs) rs1064794551

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