ClinVar Miner

Variants in gene PEX7 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
200 9 5 11 10 0 1 21

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 5 7 1 0 0
likely pathogenic 7 0 1 0 0
uncertain significance 1 1 0 7 6
likely benign 0 0 7 0 4
benign 0 0 6 4 0

All variants with conflicting interpretations #

Total variants: 21
Download table as spreadsheet
HGVS dbSNP
NM_000288.4(PEX7):c.13_19dup (p.Gly7fs) rs62636519
NM_000288.4(PEX7):c.183del (p.Phe61fs) rs774131564
NM_000288.4(PEX7):c.339+10A>C rs374668045
NM_000288.4(PEX7):c.339+10A>G rs374668045
NM_000288.4(PEX7):c.340-10A>G rs267608255
NM_000288.4(PEX7):c.345T>G (p.Tyr115Ter) rs121909154
NM_000288.4(PEX7):c.377A>C (p.Gln126Pro) rs113268723
NM_000288.4(PEX7):c.418-4G>T rs199552223
NM_000288.4(PEX7):c.615C>T (p.Asp205=) rs147298444
NM_000288.4(PEX7):c.618G>A (p.Trp206Ter) rs61753245
NM_000288.4(PEX7):c.649G>A (p.Gly217Arg) rs121909152
NM_000288.4(PEX7):c.653C>T (p.Ala218Val) rs121909151
NM_000288.4(PEX7):c.694C>T (p.Arg232Ter) rs121909153
NM_000288.4(PEX7):c.695G>A (p.Arg232Gln) rs191969418
NM_000288.4(PEX7):c.748-5del rs563675060
NM_000288.4(PEX7):c.804-5C>T rs369653173
NM_000288.4(PEX7):c.843A>G (p.Thr281=) rs767903764
NM_000288.4(PEX7):c.875T>A (p.Leu292Ter) rs1805137
NM_000288.4(PEX7):c.903+1G>C rs148591292
NM_000288.4(PEX7):c.903+8A>G rs779919482
NM_000288.4(PEX7):c.94C>T (p.Leu32=) rs886061118

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