ClinVar Miner

Variants in gene CP with conflicting interpretations

See also:
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
512 40 9 19 22 0 7 50

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 9 3 5 3 1
likely pathogenic 3 0 2 1 0
uncertain significance 5 2 0 17 5
likely benign 3 1 17 0 16
benign 1 0 5 16 0

All variants with conflicting interpretations #

Total variants: 50
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000096.4(CP):c.2554+17G>A rs35593818 0.02896
NM_000096.4(CP):c.1652C>T (p.Thr551Ile) rs61733458 0.02154
NM_000096.4(CP):c.1099C>T (p.Arg367Cys) rs34624984 0.01447
NM_000096.4(CP):c.1209-15T>A rs35465173 0.01446
NM_000096.4(CP):c.2378G>A (p.Arg793His) rs115552500 0.01239
NM_000096.4(CP):c.2286-12T>G rs183671127 0.01016
NM_000096.4(CP):c.1275T>C (p.Tyr425=) rs34237139 0.00484
NM_000096.4(CP):c.1348+9T>C rs35272481 0.00465
NM_000096.4(CP):c.2522C>G (p.Thr841Arg) rs56033670 0.00435
NM_000096.4(CP):c.1430C>T (p.Pro477Leu) rs35331711 0.00242
NM_000096.4(CP):c.322C>T (p.His108Tyr) rs34386552 0.00235
NM_000096.4(CP):c.993T>C (p.Pro331=) rs17847025 0.00213
NM_000096.4(CP):c.2571C>T (p.Tyr857=) rs151304828 0.00189
NM_000096.4(CP):c.2793A>G (p.Leu931=) rs34987997 0.00186
NM_000096.4(CP):c.2684G>C (p.Gly895Ala) rs139633388 0.00162
NM_000096.4(CP):c.2554+8C>T rs749646388 0.00049
NM_000096.4(CP):c.938C>T (p.Thr313Ile) rs144401501 0.00037
NM_000096.4(CP):c.2997C>T (p.His999=) rs147475926 0.00029
NM_000096.4(CP):c.2565C>T (p.Leu855=) rs781672409 0.00026
NM_000096.4(CP):c.2158C>T (p.Arg720Trp) rs145784949 0.00025
NM_000096.4(CP):c.1104G>C (p.Gly368=) rs142503847 0.00021
NM_000096.4(CP):c.93G>A (p.Thr31=) rs201521886 0.00013
NM_000096.4(CP):c.3006C>T (p.Ser1002=) rs199877380 0.00011
NM_000096.4(CP):c.929G>A (p.Arg310His) rs202217551 0.00010
NM_000096.4(CP):c.1131C>T (p.Ala377=) rs150733154 0.00005
NM_000096.4(CP):c.2662-14T>C rs189155564 0.00004
NM_000096.4(CP):c.1575A>G (p.Val525=) rs760634973 0.00003
NM_000096.4(CP):c.1948G>A (p.Gly650Arg) rs776936158 0.00002
NM_000096.4(CP):c.229G>C (p.Asp77His) rs200683433 0.00002
NM_000096.4(CP):c.2310G>A (p.Lys770=) rs553883583 0.00002
NM_000096.4(CP):c.583G>A (p.Gly195Arg) rs750451693 0.00002
NM_000096.4(CP):c.1380C>T (p.Thr460=) rs149790356 0.00001
NM_000096.4(CP):c.2611G>A (p.Asp871Asn) rs529607771 0.00001
NM_000096.4(CP):c.2697T>C (p.Val899=) rs17847022 0.00001
NM_000096.4(CP):c.2701C>T (p.Arg901Ter) rs386134156 0.00001
NM_000096.4(CP):c.548T>C (p.Ile183Thr) rs386134123 0.00001
NM_000096.4(CP):c.643C>T (p.Arg215Ter) rs386134155 0.00001
NM_000096.4(CP):c.1282_1286dup (p.Asp430fs) rs386134145
NM_000096.4(CP):c.2066del (p.Pro689fs) rs386134147
NM_000096.4(CP):c.2286-14dup rs561633350
NM_000096.4(CP):c.2286-15G>T rs34861155
NM_000096.4(CP):c.2389del (p.Glu797fs) rs386134149
NM_000096.4(CP):c.2630G>A (p.Trp877Ter) rs121909579
NM_000096.4(CP):c.2756T>C (p.Leu919Pro) rs1135401784
NM_000096.4(CP):c.3019-1G>A rs386134142
NM_000096.4(CP):c.606dup (p.Asp203fs) rs386134143
NM_000096.4(CP):c.650T>C (p.Phe217Ser) rs386134125
NM_000096.4(CP):c.82A>T (p.Ile28Phe) rs386134121
NM_000096.4(CP):c.848G>C (p.Trp283Ser) rs386134126

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.