ClinVar Miner

Variants in gene NR2E3 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
264 18 0 9 6 0 4 19

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 5 1 1 0
likely pathogenic 5 0 2 0 0
uncertain significance 1 2 0 2 4
likely benign 1 0 2 0 4
benign 0 0 4 4 0

All variants with conflicting interpretations #

Total variants: 19
Download table as spreadsheet
HGVS dbSNP
NM_014249.4(NR2E3):c.119-2A>C rs2723341
NM_014249.4(NR2E3):c.166G>A (p.Gly56Arg) rs121912631
NM_014249.4(NR2E3):c.227G>A (p.Arg76Gln) rs104894493
NM_014249.4(NR2E3):c.245+9G>A rs538864090
NM_014249.4(NR2E3):c.264G>T (p.Gly88=) rs558123422
NM_014249.4(NR2E3):c.311G>A (p.Arg104Gln) rs766096417
NM_014249.4(NR2E3):c.349+8G>A rs112520386
NM_014249.4(NR2E3):c.361G>A (p.Glu121Lys) rs146403122
NM_014249.4(NR2E3):c.419A>G (p.Glu140Gly) rs1805020
NM_014249.4(NR2E3):c.444T>C (p.Ala148=) rs533192044
NM_014249.4(NR2E3):c.488T>C (p.Met163Thr) rs1805021
NM_014249.4(NR2E3):c.505C>T (p.Leu169=) rs1805022
NM_014249.4(NR2E3):c.646G>A (p.Gly216Ser) rs368098126
NM_014249.4(NR2E3):c.694G>A (p.Val232Ile) rs1805023
NM_014249.4(NR2E3):c.767C>A (p.Ala256Glu) rs377257254
NM_014249.4(NR2E3):c.900G>A (p.Thr300=) rs184906734
NM_014249.4(NR2E3):c.931C>T (p.Arg311Trp) rs767442358
NM_014249.4(NR2E3):c.932G>A (p.Arg311Gln) rs28937873
NM_014249.4(NR2E3):c.951del (p.Thr318fs) rs11351249

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