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 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
754 122 1 35 16 0 0 49

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 6 0 0 0
likely pathogenic 6 0 0 0 0
uncertain significance 0 0 0 15 2
likely benign 0 0 15 0 29
benign 0 0 2 29 0

All variants with conflicting interpretations #

Total variants: 49
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_017950.4(CCDC40):c.2832+313A>G rs7210679 0.25232
NM_017950.4(CCDC40):c.2255T>C (p.Leu752Pro) rs117203086 0.01848
NM_017950.4(CCDC40):c.2784C>T (p.Ile928=) rs118143944 0.00983
NM_017950.4(CCDC40):c.2682G>A (p.Ala894=) rs4889815 0.00968
NM_017950.4(CCDC40):c.1123A>C (p.Lys375Gln) rs61734951 0.00943
NM_017950.4(CCDC40):c.2608C>T (p.Arg870Cys) rs61749025 0.00769
NM_017950.4(CCDC40):c.1303G>A (p.Glu435Lys) rs62000409 0.00649
NM_017950.4(CCDC40):c.2832+466_2832+467del rs570440845 0.00603
NM_017950.4(CCDC40):c.1441-18C>G rs181295177 0.00530
NM_017950.4(CCDC40):c.2832+20G>A rs78493584 0.00516
NM_017950.4(CCDC40):c.2336G>A (p.Arg779His) rs183809462 0.00395
NM_017950.4(CCDC40):c.3424T>C (p.Ser1142Pro) rs148900528 0.00366
NM_017950.4(CCDC40):c.3349G>A (p.Glu1117Lys) rs145595957 0.00365
NM_017950.4(CCDC40):c.1132G>A (p.Ala378Thr) rs116795025 0.00354
NM_017950.4(CCDC40):c.1220T>C (p.Ile407Thr) rs141185078 0.00327
NM_017950.4(CCDC40):c.3408C>T (p.Leu1136=) rs186591691 0.00309
NM_017950.4(CCDC40):c.334A>G (p.Thr112Ala) rs201709592 0.00245
NM_017950.4(CCDC40):c.1673C>G (p.Thr558Arg) rs191736683 0.00200
NM_017950.4(CCDC40):c.1739A>G (p.Gln580Arg) rs200815406 0.00200
NM_017950.4(CCDC40):c.180G>A (p.Ala60=) rs185006459 0.00183
NM_017950.4(CCDC40):c.2251C>A (p.Pro751Thr) rs141343307 0.00161
NM_017950.4(CCDC40):c.856-18G>A rs189118723 0.00151
NM_017950.4(CCDC40):c.3046G>A (p.Val1016Ile) rs117307093 0.00123
NM_017950.4(CCDC40):c.648C>T (p.Asp216=) rs375350606 0.00113
NM_017950.4(CCDC40):c.850G>C (p.Asp284His) rs201042940 0.00099
NM_017950.4(CCDC40):c.3249C>T (p.Tyr1083=) rs145998578 0.00083
NM_017950.4(CCDC40):c.2958C>T (p.Leu986=) rs78945041 0.00076
NM_017950.4(CCDC40):c.699T>C (p.Asp233=) rs9893189 0.00069
NM_017950.4(CCDC40):c.2968G>A (p.Asp990Asn) rs200958035 0.00062
NM_017950.4(CCDC40):c.2061G>A (p.Arg687=) rs189617808 0.00058
NM_017950.4(CCDC40):c.2892G>A (p.Ala964=) rs146360951 0.00034
NM_017950.4(CCDC40):c.248del (p.Ala83fs) rs397515393 0.00029
NM_017950.4(CCDC40):c.2229G>C (p.Glu743Asp) rs377219039 0.00020
NM_017950.4(CCDC40):c.2227G>A (p.Glu743Lys) rs201166295 0.00016
NM_017950.4(CCDC40):c.2911G>A (p.Val971Ile) rs746632559 0.00009
NM_017950.4(CCDC40):c.660C>T (p.Phe220=) rs200678214 0.00007
NM_017950.4(CCDC40):c.1372G>A (p.Ala458Thr) rs372976809 0.00006
NM_017950.4(CCDC40):c.3066A>G (p.Thr1022=) rs534912798 0.00002
NM_017950.4(CCDC40):c.1246C>T (p.Arg416Cys) rs1489341724 0.00001
NM_017950.4(CCDC40):c.3245G>A (p.Arg1082His) rs773033304 0.00001
NM_017950.4(CCDC40):c.961C>T (p.Arg321Ter) rs754867753 0.00001
NM_017950.4(CCDC40):c.2169C>T (p.Ile723=) rs200641382
NM_017950.4(CCDC40):c.2660dup (p.Asn887fs) rs1567811487
NM_017950.4(CCDC40):c.2832+315G>A rs567724903
NM_017950.4(CCDC40):c.2900G>A (p.Arg967His) rs61686936
NM_017950.4(CCDC40):c.3157del (p.Arg1053fs) rs1567818236
NM_017950.4(CCDC40):c.3358C>T (p.Gln1120Ter) rs2143789412
NM_017950.4(CCDC40):c.490G>A (p.Gly164Arg) rs770564150
NM_017950.4(CCDC40):c.940-1G>C rs2037540861

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