ClinVar Miner

Variants in gene ABCC9 with conflicting interpretations

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
1506 106 0 57 56 0 3 99

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 0 2 2 0 0
likely pathogenic 2 0 1 1 0
uncertain significance 2 1 0 43 17
likely benign 0 1 43 0 55
benign 0 0 17 55 0

All variants with conflicting interpretations #

Total variants: 99
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.*19T>C rs114906131 0.00935
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.2644-19G>A rs73254534 0.00507
NM_020297.4(ABCC9):c.285-16G>A rs144825585 0.00448
NM_020297.4(ABCC9):c.142+15dup rs571187142 0.00428
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.1056C>T (p.Tyr352=) rs149408382 0.00276
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.1677G>A (p.Ala559=) rs76458291 0.00193
NM_020297.4(ABCC9):c.924T>C (p.Asp308=) rs139127928 0.00140
NM_020297.4(ABCC9):c.798T>C (p.Asp266=) rs138356189 0.00113
NM_020297.4(ABCC9):c.2826T>C (p.Tyr942=) rs141025897 0.00092
NM_020297.4(ABCC9):c.2199-13G>A rs201226082 0.00062
NM_020297.4(ABCC9):c.2238-1G>A rs141281214 0.00056
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.4512+16C>T rs376147813 0.00049
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.3030T>C (p.Ala1010=) rs76102634 0.00039
NM_020297.4(ABCC9):c.1200G>A (p.Thr400=) rs150096625 0.00038
NM_020297.4(ABCC9):c.407-13T>C rs199717786 0.00037
NM_020297.4(ABCC9):c.1887G>T (p.Glu629Asp) rs150036969 0.00032
NM_020297.4(ABCC9):c.2154C>T (p.Ile718=) rs74067815 0.00031
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.305T>C (p.Leu102Pro) rs374659816 0.00029
NM_020297.4(ABCC9):c.3729G>A (p.Ser1243=) rs140182559 0.00023
NM_020297.4(ABCC9):c.3096+13C>T rs370712530 0.00017
NM_020297.4(ABCC9):c.4512+690C>T rs397517191 0.00017
NM_020297.4(ABCC9):c.574-18G>A rs376566343 0.00017
NM_020297.4(ABCC9):c.1909G>A (p.Val637Ile) rs113542001 0.00016
NM_020297.4(ABCC9):c.3669G>A (p.Thr1223=) rs146942382 0.00016
NM_020297.4(ABCC9):c.4062G>A (p.Ser1354=) rs145005748 0.00016
NM_020297.4(ABCC9):c.4512+765C>T rs142875103 0.00016
NM_020297.4(ABCC9):c.1332C>T (p.Gly444=) rs369830406 0.00014
NM_020297.4(ABCC9):c.1987C>T (p.Arg663Cys) rs200349671 0.00014
NM_020297.4(ABCC9):c.3316-4A>C rs201147809 0.00014
NM_020297.4(ABCC9):c.1320+1G>A rs139620148 0.00009
NM_020297.4(ABCC9):c.3993C>T (p.His1331=) rs377704379 0.00008
NM_020297.4(ABCC9):c.1988G>A (p.Arg663His) rs141999048 0.00006
NM_020297.4(ABCC9):c.3070A>G (p.Ile1024Val) rs376701259 0.00006
NM_020297.4(ABCC9):c.3668C>T (p.Thr1223Met) rs137907278 0.00006
NM_020297.4(ABCC9):c.4512+711G>A rs72559751 0.00006
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.4512+777G>A rs542730918 0.00005
NM_020297.4(ABCC9):c.1455+4A>C rs376587222 0.00004
NM_020297.4(ABCC9):c.287G>A (p.Arg96Gln) rs202103893 0.00004
NM_020297.4(ABCC9):c.3589C>T (p.Arg1197Cys) rs778849288 0.00004
NM_020297.4(ABCC9):c.1416T>C (p.Phe472=) rs777308898 0.00003
NM_020297.4(ABCC9):c.2857G>A (p.Glu953Lys) rs143685061 0.00003
NM_020297.4(ABCC9):c.3357G>A (p.Leu1119=) rs2287626 0.00003
NM_020297.4(ABCC9):c.3060G>A (p.Ser1020=) rs769003781 0.00002
NM_020297.4(ABCC9):c.3331T>C (p.Leu1111=) rs764155671 0.00002
NM_020297.4(ABCC9):c.928C>T (p.Leu310=) rs747640613 0.00002
NM_020297.4(ABCC9):c.1050C>T (p.Asn350=) rs143373045 0.00001
NM_020297.4(ABCC9):c.1129A>G (p.Ile377Val) rs567016348 0.00001
NM_020297.4(ABCC9):c.1603T>C (p.Tyr535His) rs397517184 0.00001
NM_020297.4(ABCC9):c.1659+10T>C rs201753781 0.00001
NM_020297.4(ABCC9):c.1770G>A (p.Thr590=) rs746239063 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.4512T>A (p.Ala1504=) rs777591544 0.00001
NM_020297.4(ABCC9):c.1165-6del rs35857705
NM_020297.4(ABCC9):c.1165-6dup rs35857705
NM_020297.4(ABCC9):c.1165-7_1165-6del rs35857705
NM_020297.4(ABCC9):c.133T>C (p.Leu45=) rs1555125400
NM_020297.4(ABCC9):c.142+19T>A rs547603072
NM_020297.4(ABCC9):c.1992C>T (p.Pro664=) rs780071007
NM_020297.4(ABCC9):c.2020-6T>C rs1234670723
NM_020297.4(ABCC9):c.2238-17del rs4148670
NM_020297.4(ABCC9):c.2470C>A (p.Arg824=) rs779866340
NM_020297.4(ABCC9):c.2475G>A (p.Ala825=) rs587780845
NM_020297.4(ABCC9):c.2644-11G>A rs61926078
NM_020297.4(ABCC9):c.2644-11G>C rs61926078
NM_020297.4(ABCC9):c.3346C>T (p.Arg1116Cys) rs387907228
NM_020297.4(ABCC9):c.3460C>T (p.Arg1154Trp) rs387907208
NM_020297.4(ABCC9):c.3669+4C>T rs189565793
NM_020297.4(ABCC9):c.366T>C (p.Tyr122=) rs886049174
NM_020297.4(ABCC9):c.4450-5del rs4148680
NM_020297.4(ABCC9):c.4450-5dup rs4148680
NM_020297.4(ABCC9):c.4512+744_4512+746delinsAAAT rs869025349
NM_020297.4(ABCC9):c.639G>A (p.Val213=) rs1213285317
NM_020297.4(ABCC9):c.6C>T (p.Ser2=) rs765382139
NM_020297.4(ABCC9):c.817-18del rs199947733
NM_020297.4(ABCC9):c.817-7del rs193922684

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