ClinVar Miner

Variants in gene combination ELP4, PAX6 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
55 67 0 21 12 0 0 30

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 6 9
likely benign 0 0 6 0 18
benign 0 0 9 18 0

All variants with conflicting interpretations #

Total variants: 30
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000280.4(PAX6):c.*2901T>C rs542906080 0.04927
NM_001368894.2(PAX6):c.*842G>A rs115045926 0.01111
NM_001368894.2(PAX6):c.*356T>A rs774392481 0.00925
NM_000280.4(PAX6):c.*2985G>A rs3026399 0.00879
NM_000280.4(PAX6):c.*2416G>T rs79739975 0.00857
NM_000280.4(PAX6):c.*3670C>T rs149777109 0.00394
NM_000280.4(PAX6):c.*3168C>T rs187705792 0.00295
NM_000280.4(PAX6):c.*2697T>A rs138881442 0.00236
NM_000280.4(PAX6):c.*1478C>T rs181818313 0.00198
NM_000280.4(PAX6):c.*2506C>T rs3026397 0.00189
NM_000280.4(PAX6):c.*4370C>G rs183115097 0.00189
NM_000280.4(PAX6):c.*1436G>A rs138035131 0.00148
NM_000280.4(PAX6):c.*5108A>G rs146579778 0.00120
NM_000280.4(PAX6):c.*3885G>T rs183433948 0.00089
NM_000280.4(PAX6):c.*3428C>T rs191399467 0.00076
NM_001368894.2(PAX6):c.*891G>A rs530259403 0.00065
NM_000280.4(PAX6):c.*2882T>C rs143185259 0.00060
NM_001368894.2(PAX6):c.*841C>T rs530931929 0.00031
NM_000280.4(PAX6):c.*4627A>C rs140971065 0.00030
NM_000280.4(PAX6):c.*3318A>G rs371438311 0.00013
NM_000280.4(PAX6):c.*3746C>T rs567720234 0.00005
NM_000280.4(PAX6):c.*4696G>C rs180780893 0.00002
NM_000280.4(PAX6):c.*4599T>G rs185968715
NM_001368894.2(PAX6):c.*21del (p.Ter437=) rs759391101
NM_001368894.2(PAX6):c.1306C>A (p.Gln436Lys) rs751795008
NM_001368894.2(PAX6):c.1308G>A (p.Gln436=) rs758783285
NM_001368894.2(PAX6):c.1309T>A (p.Ter437Lys) rs750848278
NM_001368894.2(PAX6):c.1309T>C (p.Ter437Gln) rs750848278
NM_001368894.2(PAX6):c.1310A>T (p.Ter437Leu) rs121907922
NM_001368894.2(PAX6):c.664C>T (p.Arg222Trp) rs757259413

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