ClinVar Miner

Variants with conflicting interpretations studied for Atrial fibrillation, familial, 7

Coded as:
Minimum review status of the submission for Atrial fibrillation, familial, 7: Collection method of the submission for Atrial fibrillation, familial, 7:
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
355 42 0 10 20 0 3 31

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
Atrial fibrillation, familial, 7 pathogenic likely pathogenic uncertain significance likely benign benign
pathogenic 0 1 3 0 0
likely pathogenic 1 0 1 0 0
uncertain significance 3 1 0 18 3
likely benign 0 0 18 0 9
benign 0 0 3 9 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
Atrial fibrillation, familial, 7 355 42 0 10 20 0 3 31

All variants with conflicting interpretations #

Total variants: 31
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_002234.4(KCNA5):c.381C>T (p.Ser127=) rs45504599 0.02823
NM_002234.4(KCNA5):c.751G>A (p.Ala251Thr) rs12720442 0.01115
NM_002234.4(KCNA5):c.1733G>A (p.Arg578Lys) rs12720445 0.00612
NM_002234.4(KCNA5):c.1150G>A (p.Gly384Arg) rs76708779 0.00450
NM_002234.4(KCNA5):c.1497G>A (p.Leu499=) rs17221805 0.00450
NM_002234.4(KCNA5):c.615G>C (p.Leu205=) rs12720443 0.00441
NM_002234.4(KCNA5):c.929C>T (p.Pro310Leu) rs17215402 0.00439
NM_002234.4(KCNA5):c.570C>T (p.Asn190=) rs12720444 0.00368
NM_002234.4(KCNA5):c.633G>C (p.Glu211Asp) rs35853292 0.00128
NM_002234.4(KCNA5):c.1595C>T (p.Pro532Leu) rs17221812 0.00127
NM_002234.4(KCNA5):c.79G>A (p.Gly27Ser) rs201238766 0.00105
NM_002234.4(KCNA5):c.634C>T (p.Arg212Cys) rs77281462 0.00088
NM_002234.4(KCNA5):c.898G>A (p.Gly300Ser) rs148708451 0.00019
NM_002234.4(KCNA5):c.251A>C (p.Glu84Ala) rs377036305 0.00018
NM_002234.4(KCNA5):c.1672G>A (p.Gly558Arg) rs201328038 0.00016
NM_002234.4(KCNA5):c.36T>C (p.Gly12=) rs886049572 0.00016
NM_002234.4(KCNA5):c.1329C>T (p.Ile443=) rs147209278 0.00013
NM_002234.4(KCNA5):c.180G>A (p.Ala60=) rs376660949 0.00013
NM_002234.4(KCNA5):c.797C>T (p.Thr266Ile) rs369750762 0.00012
NM_002234.4(KCNA5):c.544G>A (p.Gly182Arg) rs755408841 0.00008
NM_002234.4(KCNA5):c.464A>G (p.Tyr155Cys) rs202117321 0.00007
NM_002234.4(KCNA5):c.913G>A (p.Ala305Thr) rs199794307 0.00007
NM_002234.4(KCNA5):c.1580C>T (p.Thr527Met) rs121908591 0.00005
NM_002234.4(KCNA5):c.1539C>T (p.Pro513=) rs145832242 0.00004
NM_002234.4(KCNA5):c.1210C>T (p.Leu404=) rs886049576 0.00001
NM_002234.4(KCNA5):c.1701G>A (p.Gly567=) rs771735295 0.00001
NM_002234.4(KCNA5):c.1727C>T (p.Ala576Val) rs121908592 0.00001
NM_002234.4(KCNA5):c.186G>C (p.Ser62=) rs760015626
NM_002234.4(KCNA5):c.213_245del (p.Asp72_Pro82del) rs144879674
NM_002234.4(KCNA5):c.229C>T (p.Pro77Ser) rs202083721
NM_002234.4(KCNA5):c.92G>T (p.Gly31Val) rs61737395

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