ClinVar Miner

Variants in gene POR with conflicting interpretations

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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
161 9 0 4 12 0 3 17

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 2 0 1
likely pathogenic 1 0 0 0 0
uncertain significance 2 0 0 7 6
likely benign 0 0 7 0 3
benign 1 0 6 3 0

All variants with conflicting interpretations #

Total variants: 17
Download table as spreadsheet
NM_000941.3(POR):c.1370G>A (p.Arg457His) rs28931608
NM_000941.3(POR):c.1521C>T (p.Gly507=) rs370823127
NM_000941.3(POR):c.15A>G (p.Gly5=) rs10262966
NM_000941.3(POR):c.1660C>T (p.Arg554Ter) rs782336856
NM_000941.3(POR):c.1815+8G>A rs72557952
NM_000941.3(POR):c.1891G>A (p.Val631Ile) rs145782750
NM_000941.3(POR):c.1898+3G>A rs41301439
NM_000941.3(POR):c.1953T>G (p.Ala651=) rs370865328
NM_000941.3(POR):c.369C>T (p.Ala123=) rs41299490
NM_000941.3(POR):c.399C>T (p.Asn133=) rs181837747
NM_000941.3(POR):c.517-4G>A rs41299496
NM_000941.3(POR):c.571G>A (p.Val191Met) rs201513102
NM_000941.3(POR):c.683C>T (p.Pro228Leu) rs17853284
NM_000941.3(POR):c.687C>T (p.Ala229=) rs72557906
NM_000941.3(POR):c.859G>C (p.Ala287Pro) rs121912974
NM_000941.3(POR):c.87G>A (p.Thr29=) rs41295381
NM_000941.3(POR):c.984C>T (p.Ala328=) rs72557941

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