ClinVar Miner

Variants in gene PEX12 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
458 16 0 27 7 0 2 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 23 2 0 0
likely pathogenic 23 0 1 0 0
uncertain significance 2 1 0 7 0
likely benign 0 0 7 0 4
benign 0 0 0 4 0

All variants with conflicting interpretations #

Total variants: 34
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000286.3(PEX12):c.733T>A (p.Leu245Ile) rs12941376 0.00945
NM_000286.3(PEX12):c.102A>T (p.Arg34Ser) rs147530802 0.00493
NM_000286.3(PEX12):c.451C>T (p.Arg151Cys) rs138731505 0.00180
NM_000286.3(PEX12):c.452G>A (p.Arg151His) rs150186509 0.00113
NM_000286.3(PEX12):c.722G>T (p.Gly241Val) rs139417458 0.00101
NM_000286.3(PEX12):c.84T>C (p.Ser28=) rs200641558 0.00020
NM_000286.3(PEX12):c.1002G>A (p.Arg334=) rs200283718 0.00011
NM_000286.3(PEX12):c.681-2A>C rs187526749 0.00010
NM_000286.3(PEX12):c.41C>A (p.Ala14Asp) rs193253559 0.00007
NM_000286.3(PEX12):c.126+1G>T rs144259891 0.00003
NM_000286.3(PEX12):c.570A>G (p.Ser190=) rs758132842 0.00002
NM_000286.3(PEX12):c.1009C>T (p.Gln337Ter) rs760739894 0.00001
NM_000286.3(PEX12):c.211C>T (p.Gln71Ter) rs767447750 0.00001
NM_000286.3(PEX12):c.331C>T (p.Gln111Ter) rs1056238409 0.00001
NM_000286.3(PEX12):c.680+1G>A rs904972651 0.00001
NM_000286.3(PEX12):c.140C>G (p.Ser47Ter)
NM_000286.3(PEX12):c.223_224del (p.Leu75fs) rs1555549876
NM_000286.3(PEX12):c.334C>T (p.Gln112Ter) rs776731688
NM_000286.3(PEX12):c.362TTC[2] (p.Leu123del) rs751058068
NM_000286.3(PEX12):c.511del (p.Glu171fs) rs945104524
NM_000286.3(PEX12):c.543C>A (p.Tyr181Ter)
NM_000286.3(PEX12):c.573_574dup (p.Leu192fs)
NM_000286.3(PEX12):c.625C>T (p.Gln209Ter) rs61752106
NM_000286.3(PEX12):c.681-3_681-2del rs138568975
NM_000286.3(PEX12):c.684_687del (p.Ser229fs) rs62642859
NM_000286.3(PEX12):c.69_76dup (p.Gln26delinsArgTer) rs1238451790
NM_000286.3(PEX12):c.730_733dup (p.Leu245fs) rs61752107
NM_000286.3(PEX12):c.808del (p.Gln270fs)
NM_000286.3(PEX12):c.910_911del (p.Cys304fs) rs867245161
NM_000286.3(PEX12):c.920_921del (p.Cys307fs) rs2142228928
NM_000286.3(PEX12):c.959C>T (p.Ser320Phe) rs28936697
NM_000286.3(PEX12):c.961_964del (p.Gly321fs) rs749650201
NM_000286.3(PEX12):c.969_970del (p.Phe324fs) rs2072781707
NM_000286.3(PEX12):c.987_988del (p.Phe330fs) rs764657253

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