ClinVar Miner

Variants with conflicting interpretations studied for Cortical dysplasia-focal epilepsy syndrome

Coded as:
Minimum review status of the submission for Cortical dysplasia-focal epilepsy syndrome: Collection method of the submission for Cortical dysplasia-focal epilepsy syndrome:
Minimum review status of the other submission: Collection method of the other submission:
Minimum conflict level:
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
1368 96 0 12 41 0 0 52

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.

All conditions
Cortical dysplasia-focal epilepsy syndrome pathogenic likely pathogenic uncertain significance likely benign benign
pathogenic 0 5 0 0 0
likely pathogenic 5 0 0 0 0
uncertain significance 0 0 0 40 2
likely benign 0 0 40 0 7
benign 0 0 2 7 0

Condition to condition summary #

Total conditions: 1
Download table as spreadsheet
Condition 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
Cortical dysplasia-focal epilepsy syndrome 1368 96 0 12 41 0 0 52

All variants with conflicting interpretations #

Total variants: 52
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_014141.6(CNTNAP2):c.3797-6C>T rs79777576 0.01899
NM_014141.6(CNTNAP2):c.1311C>T (p.Ile437=) rs56356283 0.00340
NM_014141.6(CNTNAP2):c.1083G>A (p.Val361=) rs139180845 0.00269
NM_014141.6(CNTNAP2):c.3105C>T (p.Asn1035=) rs112483670 0.00264
NM_014141.6(CNTNAP2):c.1220A>G (p.Asn407Ser) rs143877693 0.00253
NM_014141.6(CNTNAP2):c.681C>T (p.His227=) rs142984073 0.00236
NM_014141.6(CNTNAP2):c.73G>A (p.Ala25Thr) rs200866893 0.00101
NM_014141.6(CNTNAP2):c.2609T>C (p.Val870Ala) rs138481453 0.00096
NM_014141.6(CNTNAP2):c.2369G>A (p.Arg790His) rs73464271 0.00086
NM_014141.6(CNTNAP2):c.2508T>C (p.Phe836=) rs149185385 0.00072
NM_014141.6(CNTNAP2):c.3522A>T (p.Gly1174=) rs141078449 0.00054
NM_014141.6(CNTNAP2):c.2651G>A (p.Arg884Gln) rs758630057 0.00048
NM_014141.6(CNTNAP2):c.3927C>T (p.Ala1309=) rs143856702 0.00041
NM_014141.6(CNTNAP2):c.1777+13T>G rs188140291 0.00039
NM_014141.6(CNTNAP2):c.3247+15A>G rs201602527 0.00036
NM_014141.6(CNTNAP2):c.2190C>T (p.Cys730=) rs74354654 0.00029
NM_014141.6(CNTNAP2):c.3174C>G (p.Thr1058=) rs143226012 0.00026
NM_014141.6(CNTNAP2):c.561T>C (p.Val187=) rs201200400 0.00019
NM_014141.6(CNTNAP2):c.837G>A (p.Val279=) rs143507886 0.00019
NM_014141.6(CNTNAP2):c.2606T>C (p.Ile869Thr) rs121908445 0.00018
NM_014141.6(CNTNAP2):c.3968A>C (p.Asp1323Ala) rs142434274 0.00018
NM_014141.6(CNTNAP2):c.515T>C (p.Ile172Thr) rs201326295 0.00017
NM_014141.6(CNTNAP2):c.3600G>A (p.Ser1200=) rs117876038 0.00016
NM_014141.6(CNTNAP2):c.1777+7G>A rs770951811 0.00013
NM_014141.6(CNTNAP2):c.209-11C>T rs369056998 0.00013
NM_014141.6(CNTNAP2):c.939+14C>T rs370916766 0.00013
NM_014141.6(CNTNAP2):c.939+8T>A rs199994339 0.00008
NM_014141.6(CNTNAP2):c.645C>T (p.Asn215=) rs776956365 0.00007
NM_014141.6(CNTNAP2):c.1898-9T>C rs372830287 0.00006
NM_014141.6(CNTNAP2):c.2554+14G>T rs546437079 0.00005
NM_014141.6(CNTNAP2):c.1623G>A (p.Pro541=) rs146873712 0.00004
NM_014141.6(CNTNAP2):c.3716-6C>G rs77025884 0.00004
NM_014141.6(CNTNAP2):c.2241G>A (p.Ala747=) rs758102050 0.00003
NM_014141.6(CNTNAP2):c.2460C>T (p.Ser820=) rs144496909 0.00003
NM_014141.6(CNTNAP2):c.3797-5G>A rs745770134 0.00003
NM_014141.6(CNTNAP2):c.1248G>A (p.Ala416=) rs779901891 0.00002
NM_014141.6(CNTNAP2):c.2255+12C>T rs749270618 0.00002
NM_014141.6(CNTNAP2):c.2340A>G (p.Ser780=) rs778124698 0.00002
NM_014141.6(CNTNAP2):c.2497del (p.Trp833fs) rs1391540245 0.00001
NM_014141.6(CNTNAP2):c.3476-7C>T rs1057520468 0.00001
NM_014141.6(CNTNAP2):c.3651G>A (p.Ser1217=) rs377455159 0.00001
NM_014141.6(CNTNAP2):c.687A>G (p.Glu229=) rs767033703 0.00001
NM_014141.6(CNTNAP2):c.87C>T (p.Pro29=) rs886062049 0.00001
NM_014141.6(CNTNAP2):c.1348+13T>G rs200282837
NM_014141.6(CNTNAP2):c.1361_1362del (p.Asn454fs) rs1794916576
NM_014141.6(CNTNAP2):c.1777+2T>C
NM_014141.6(CNTNAP2):c.286A>G (p.Ser96Gly) rs540745201
NM_014141.6(CNTNAP2):c.3262C>T (p.Arg1088Ter) rs766777011
NM_014141.6(CNTNAP2):c.550+10G>A rs776175685
NM_014141.6(CNTNAP2):c.600C>T (p.Phe200=) rs752019151
NM_014141.6(CNTNAP2):c.945C>G (p.Thr315=) rs794727872
NM_014141.6(CNTNAP2):c.97+1G>A rs972116002

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