ClinVar Miner

Variants with conflicting interpretations studied for Dilated cardiomyopathy 1O

Coded as:
Minimum review status of the submission for Dilated cardiomyopathy 1O: Collection method of the submission for Dilated cardiomyopathy 1O:
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
1212 19 0 7 30 0 1 38

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
Dilated cardiomyopathy 1O pathogenic uncertain significance likely benign benign
pathogenic 0 1 0 0
uncertain significance 1 0 18 12
likely benign 0 18 0 7
benign 0 12 7 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
Dilated cardiomyopathy 1O 1212 19 0 7 30 0 1 38

All variants with conflicting interpretations #

Total variants: 38
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_020297.4(ABCC9):c.2424+9T>C rs11835804 0.02576
NM_020297.4(ABCC9):c.1848C>T (p.Asp616=) rs61001398 0.01493
NM_020297.4(ABCC9):c.3321C>T (p.Ile1107=) rs35404804 0.01226
NM_020297.4(ABCC9):c.789C>T (p.Cys263=) rs58386780 0.01183
NM_020297.4(ABCC9):c.2200G>A (p.Val734Ile) rs61688134 0.00769
NM_020297.4(ABCC9):c.3409G>A (p.Val1137Ile) rs147895473 0.00739
NM_020297.4(ABCC9):c.2631G>A (p.Thr877=) rs139408145 0.00386
NM_020297.4(ABCC9):c.2523C>T (p.Ala841=) rs144537241 0.00345
NM_020297.4(ABCC9):c.2093-7T>C rs185235724 0.00261
NM_020297.4(ABCC9):c.407-14C>A rs201279882 0.00248
NM_020297.4(ABCC9):c.3768T>C (p.Leu1256=) rs150303433 0.00209
NM_020297.4(ABCC9):c.2826T>C (p.Tyr942=) rs141025897 0.00092
NM_020297.4(ABCC9):c.2770-13A>G rs184123387 0.00055
NM_020297.4(ABCC9):c.372T>C (p.Asn124=) rs377384557 0.00051
NM_020297.4(ABCC9):c.75T>C (p.Phe25=) rs201972673 0.00045
NM_020297.4(ABCC9):c.2862C>T (p.Asp954=) rs2291550 0.00041
NM_020297.4(ABCC9):c.2050G>A (p.Gly684Ser) rs148174226 0.00039
NM_020297.4(ABCC9):c.1887G>T (p.Glu629Asp) rs150036969 0.00032
NM_020297.4(ABCC9):c.3339T>G (p.Ser1113=) rs138280089 0.00031
NM_020297.4(ABCC9):c.1557G>A (p.Glu519=) rs143346402 0.00029
NM_020297.4(ABCC9):c.2262T>C (p.Tyr754=) rs145561881 0.00029
NM_020297.4(ABCC9):c.1332C>T (p.Gly444=) rs369830406 0.00014
NM_020297.4(ABCC9):c.3316-4A>C rs201147809 0.00014
NM_020297.4(ABCC9):c.882G>A (p.Gly294=) rs764574133 0.00006
NM_020297.4(ABCC9):c.1374C>T (p.Val458=) rs200819464 0.00005
NM_020297.4(ABCC9):c.3589C>T (p.Arg1197Cys) rs778849288 0.00004
NM_020297.4(ABCC9):c.3357G>A (p.Leu1119=) rs2287626 0.00003
NM_020297.4(ABCC9):c.1659+10T>C rs201753781 0.00001
NM_020297.4(ABCC9):c.1875G>A (p.Ser625=) rs727502873 0.00001
NM_020297.4(ABCC9):c.2199-6T>C rs535477725 0.00001
NM_020297.4(ABCC9):c.3669+10T>C rs199640712 0.00001
NM_020297.4(ABCC9):c.4103-14T>C rs1462468885 0.00001
NM_020297.4(ABCC9):c.133T>C (p.Leu45=) rs1555125400
NM_020297.4(ABCC9):c.1992C>T (p.Pro664=) rs780071007
NM_020297.4(ABCC9):c.2644-11G>A rs61926078
NM_020297.4(ABCC9):c.366T>C (p.Tyr122=) rs886049174
NM_020297.4(ABCC9):c.4512+744_4512+746delinsAAAT rs869025349
NM_020297.4(ABCC9):c.6C>T (p.Ser2=) rs765382139

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