ClinVar Miner

Variants with conflicting interpretations studied for Familial atrial fibrillation

Coded as:
Minimum review status of the submission for Familial atrial fibrillation: Y axis collection method of the submission for Familial atrial fibrillation:
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 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
38 165 1 36 25 0 1 59

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
Familial atrial fibrillation likely pathogenic uncertain significance likely benign benign
uncertain significance 1 1 17 11
likely benign 0 4 0 36

Condition to condition summary #

Total conditions: 14
Download table as spreadsheet
Condition 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
not specified 0 8 0 29 16 0 0 44
Long QT syndrome 0 78 0 14 3 0 1 17
Cardiovascular phenotype 0 15 0 10 3 0 0 13
Arrhythmia 0 9 0 10 1 0 0 11
Cardiomyopathy 0 0 1 4 5 0 0 10
not provided 0 11 0 5 4 0 0 9
Dilated cardiomyopathy 1O 0 0 0 3 5 0 0 8
Atrial fibrillation, familial, 7 0 2 0 3 2 0 0 5
Cardiac arrhythmia 0 1 0 3 0 0 0 3
Andersen Tawil syndrome; Short QT syndrome 3 0 2 0 1 0 0 0 1
Atrial standstill 1; Atrial fibrillation, familial, 11 0 1 0 1 0 0 0 1
Long QT syndrome 1 0 0 0 0 0 0 1 1
Wolff-Parkinson-White pattern 0 0 0 0 0 0 1 1
short QT syndrome 0 166 0 0 1 0 0 1

All variants with conflicting interpretations #

Total variants: 59
Download table as spreadsheet
HGVS dbSNP
NM_000218.2(KCNQ1):c.-5T>C rs532941548
NM_000218.2(KCNQ1):c.1110G>A (p.Ala370=) rs1805118
NM_000218.2(KCNQ1):c.1179G>T (p.Lys393Asn) rs12720457
NM_000218.2(KCNQ1):c.1189C>T (p.Arg397Trp) rs199472776
NM_000218.2(KCNQ1):c.1222C>G (p.Pro408Ala) rs28730756
NM_000218.2(KCNQ1):c.1251+13C>T rs201364493
NM_000218.2(KCNQ1):c.1394-14C>T rs28730758
NM_000218.2(KCNQ1):c.1394-8C>T rs371488379
NM_000218.2(KCNQ1):c.1455C>T (p.Phe485=) rs17215465
NM_000218.2(KCNQ1):c.1514+3G>A rs374767819
NM_000218.2(KCNQ1):c.1514+9C>T rs770840921
NM_000218.2(KCNQ1):c.1590+14T>C rs11024034
NM_000218.2(KCNQ1):c.1749C>T (p.Arg583=) rs200670744
NM_000218.2(KCNQ1):c.1794+11G>A rs186188610
NM_000218.2(KCNQ1):c.1875C>T (p.Pro625=) rs112113213
NM_000218.2(KCNQ1):c.1927G>A (p.Gly643Ser) rs1800172
NM_000218.2(KCNQ1):c.1942G>A (p.Val648Ile) rs34150427
NM_000218.2(KCNQ1):c.207G>T (p.Ala69=) rs587781009
NM_000218.2(KCNQ1):c.387-7C>T rs201682200
NM_000218.2(KCNQ1):c.435C>T (p.Ile145=) rs1800170
NM_000218.2(KCNQ1):c.459G>A (p.Thr153=) rs148121889
NM_000218.2(KCNQ1):c.477+9C>T rs28730664
NM_000218.2(KCNQ1):c.478-8C>T rs150711844
NM_000218.2(KCNQ1):c.513C>T (p.Tyr171=) rs139042529
NM_000218.2(KCNQ1):c.720C>T (p.His240=) rs28730754
NM_000218.2(KCNQ1):c.972C>T (p.Val324=) rs554518844
NM_000891.2(KCNJ2):c.-228C>T rs765064661
NM_000891.2(KCNJ2):c.-2C>T rs144760658
NM_000891.2(KCNJ2):c.1229A>G (p.Asn410Ser) rs141069645
NM_000891.2(KCNJ2):c.531C>T (p.Gly177=) rs544384907
NM_002234.3(KCNA5):c.1149T>C (p.Gly383=) rs2359641
NM_002234.3(KCNA5):c.1150G>A (p.Gly384Arg) rs76708779
NM_002234.3(KCNA5):c.180G>A (p.Ala60=) rs376660949
NM_002234.3(KCNA5):c.381C>T (p.Ser127=) rs45504599
NM_002234.3(KCNA5):c.751G>A (p.Ala251Thr) rs12720442
NM_002234.3(KCNA5):c.898G>A (p.Gly300Ser) rs148708451
NM_002234.3(KCNA5):c.92G>T (p.Gly31Val) rs61737395
NM_005266.6(GJA5):c.369C>T (p.Tyr123=) rs2232191
NM_005691.3(ABCC9):c.-11T>C rs72559432
NM_005691.3(ABCC9):c.1165-6delT rs35857705
NM_005691.3(ABCC9):c.1165-6dup rs35857705
NM_005691.3(ABCC9):c.1332C>T (p.Gly444=) rs369830406
NM_005691.3(ABCC9):c.1557G>A (p.Glu519=) rs143346402
NM_005691.3(ABCC9):c.1659+10T>C rs201753781
NM_005691.3(ABCC9):c.2238-17del rs4148670
NM_005691.3(ABCC9):c.2631G>A (p.Thr877=) rs139408145
NM_005691.3(ABCC9):c.2644-11G>A rs61926078
NM_005691.3(ABCC9):c.2770-13A>G rs184123387
NM_005691.3(ABCC9):c.2862C>T (p.Asp954=) rs2291550
NM_005691.3(ABCC9):c.372T>C (p.Asn124=) rs377384557
NM_020297.3(ABCC9):c.1164+11A>G rs4762720
NM_020297.3(ABCC9):c.1296C= (p.Pro432=) rs10770865
NM_020297.3(ABCC9):c.1848C>T (p.Asp616=) rs61001398
NM_020297.3(ABCC9):c.2199-11T>C rs697250
NM_020297.3(ABCC9):c.2199-6T>C rs535477725
NM_020297.3(ABCC9):c.2424+9T>C rs11835804
NM_020297.3(ABCC9):c.2826T>C (p.Tyr942=) rs141025897
NM_020297.3(ABCC9):c.407-14C>A rs201279882
NM_020297.3(ABCC9):c.574-5C>A rs3759236

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.