ClinVar Miner

Variants in gene CCDC40 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 Variants with at least 2 submissions 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 kind of conflict
173 28 1 25 22 0 1 46

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 1 2 1 0 0
likely pathogenic 2 0 0 0 0
uncertain significance 1 0 0 15 10
likely benign 0 0 15 0 23
benign 0 0 10 23 0

All variants with conflicting interpretations #

Total variants: 46
Download table as spreadsheet
HGVS dbSNP
NM_017950.3(CCDC40):c.-36C>T rs73437681
NM_017950.3(CCDC40):c.1123A>C (p.Lys375Gln) rs61734951
NM_017950.3(CCDC40):c.1131C>T (p.Cys377=) rs74692882
NM_017950.3(CCDC40):c.1159+12C>T rs2289533
NM_017950.3(CCDC40):c.1312A>T (p.Lys438Ter)
NM_017950.3(CCDC40):c.1338C>T (p.Leu446=) rs61734950
NM_017950.3(CCDC40):c.1449C>T (p.Thr483=) rs116824266
NM_017950.3(CCDC40):c.1459G>A (p.Ala487Thr) rs185157579
NM_017950.3(CCDC40):c.1466G>T (p.Ser489Ile) rs61739354
NM_017950.3(CCDC40):c.1468G>A (p.Val490Met) rs200902099
NM_017950.3(CCDC40):c.1673C>G (p.Thr558Arg) rs191736683
NM_017950.3(CCDC40):c.1739A>G (p.Gln580Arg) rs200815406
NM_017950.3(CCDC40):c.180G>A (p.Ala60=) rs185006459
NM_017950.3(CCDC40):c.1889C>T (p.Ala630Val) rs61749058
NM_017950.3(CCDC40):c.2017G>A (p.Asp673Asn) rs115850223
NM_017950.3(CCDC40):c.2226C>T (p.Ser742=) rs72849355
NM_017950.3(CCDC40):c.2251C>A (p.Pro751Thr) rs141343307
NM_017950.3(CCDC40):c.2255T>C (p.Leu752Pro) rs117203086
NM_017950.3(CCDC40):c.2323G>A (p.Val775Met) rs60684213
NM_017950.3(CCDC40):c.2332C>T (p.Leu778=) rs202075842
NM_017950.3(CCDC40):c.2336G>A (p.Arg779His) rs183809462
NM_017950.3(CCDC40):c.2387C>G (p.Ala796Gly) rs139435501
NM_017950.3(CCDC40):c.248delC (p.Ala83Valfs) rs397515393
NM_017950.3(CCDC40):c.2604C>T (p.Phe868=) rs61749027
NM_017950.3(CCDC40):c.2712-1G>T rs370706991
NM_017950.3(CCDC40):c.2784C>T (p.Ile928=) rs118143944
NM_017950.3(CCDC40):c.2785G>A (p.Gly929Ser) rs59896146
NM_017950.3(CCDC40):c.2868G>A (p.Lys956=) rs1982243
NM_017950.3(CCDC40):c.2892G>A (p.Ala964=) rs146360951
NM_017950.3(CCDC40):c.2900G>A (p.Arg967His) rs61686936
NM_017950.3(CCDC40):c.2900G>T (p.Arg967Leu) rs61686936
NM_017950.3(CCDC40):c.2958C>T (p.Leu986=) rs78945041
NM_017950.3(CCDC40):c.2968G>A (p.Asp990Asn) rs200958035
NM_017950.3(CCDC40):c.3046G>A (p.Val1016Ile) rs117307093
NM_017950.3(CCDC40):c.3109C>G (p.Leu1037Val) rs886038640
NM_017950.3(CCDC40):c.334A>G (p.Thr112Ala) rs201709592
NM_017950.3(CCDC40):c.3354C>A (p.Tyr1118Ter) rs374909386
NM_017950.3(CCDC40):c.504G>A (p.Pro168=) rs74000351
NM_017950.3(CCDC40):c.507G>A (p.Ser169=) rs2885349
NM_017950.3(CCDC40):c.630C>T (p.Ser210=) rs117419007
NM_017950.3(CCDC40):c.677-4C>G rs2289530
NM_017950.3(CCDC40):c.850G>C (p.Asp284His) rs201042940
NM_017950.3(CCDC40):c.856-18G>A rs189118723
NM_017950.3(CCDC40):c.873C>T (p.Phe291=) rs2289531
NM_017950.3(CCDC40):c.946G>A (p.Ala316Thr) rs61998241
NM_017950.3(CCDC40):c.966C>T (p.Ala322=) rs369089505

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