ClinVar Miner

Variants in gene ABCC9 with conflicting interpretations "uncertain significance" and "likely benign"

Submission 1 (uncertain significance) minimum review status: Submission 1 (uncertain significance) method:
Submission 2 (likely benign) minimum review status: Submission 2 (likely benign) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 40
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HGVS dbSNP gnomAD frequency
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.75T>C (p.Phe25=) rs201972673 0.00045
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.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.4512+690C>T rs397517191 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.4512+765C>T rs142875103 0.00016
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.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.4512+777G>A rs542730918 0.00005
NM_020297.4(ABCC9):c.1455+4A>C rs376587222 0.00004
NM_020297.4(ABCC9):c.3589C>T (p.Arg1197Cys) rs778849288 0.00004
NM_020297.4(ABCC9):c.3060G>A (p.Ser1020=) rs769003781 0.00002
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.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.1165-6dup 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.1992C>T (p.Pro664=) rs780071007
NM_020297.4(ABCC9):c.2470C>A (p.Arg824=) rs779866340
NM_020297.4(ABCC9):c.2644-11G>C rs61926078
NM_020297.4(ABCC9):c.3669+4C>T rs189565793
NM_020297.4(ABCC9):c.366T>C (p.Tyr122=) rs886049174
NM_020297.4(ABCC9):c.639G>A (p.Val213=) rs1213285317
NM_020297.4(ABCC9):c.6C>T (p.Ser2=) rs765382139

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