ClinVar Miner

List of variants in gene ABCC9 reported as uncertain significance by GeneDx

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Gene type:
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Total variants: 103
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HGVS dbSNP gnomAD frequency
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.1987C>T (p.Arg663Cys) rs200349671 0.00014
NM_020297.4(ABCC9):c.1320+1G>A rs139620148 0.00009
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.4512+711G>A rs72559751 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.1849G>A (p.Asp617Asn) rs757681761 0.00004
NM_020297.4(ABCC9):c.2599G>A (p.Val867Ile) rs376754153 0.00004
NM_020297.4(ABCC9):c.287G>A (p.Arg96Gln) rs202103893 0.00004
NM_020297.4(ABCC9):c.3061G>A (p.Glu1021Lys) rs749668601 0.00004
NM_020297.4(ABCC9):c.1063G>T (p.Ala355Ser) rs145455570 0.00003
NM_020297.4(ABCC9):c.1329G>A (p.Met443Ile) rs151197166 0.00003
NM_020297.4(ABCC9):c.2197A>G (p.Asn733Asp) rs369604693 0.00003
NM_020297.4(ABCC9):c.2312C>T (p.Thr771Ile) rs180739851 0.00003
NM_020297.4(ABCC9):c.2857G>A (p.Glu953Lys) rs143685061 0.00003
NM_020297.4(ABCC9):c.3557G>A (p.Arg1186Gln) rs776973456 0.00003
NM_020297.4(ABCC9):c.3594G>A (p.Met1198Ile) rs199900459 0.00003
NM_020297.4(ABCC9):c.1828_1829del (p.Leu610fs) rs776934642 0.00002
NM_020297.4(ABCC9):c.1859G>A (p.Arg620Gln) rs139539832 0.00002
NM_020297.4(ABCC9):c.200C>T (p.Pro67Leu) rs766600615 0.00002
NM_020297.4(ABCC9):c.2927A>T (p.Lys976Ile) rs149319186 0.00002
NM_020297.4(ABCC9):c.3221A>G (p.Asn1074Ser) rs765629988 0.00002
NM_020297.4(ABCC9):c.3590G>A (p.Arg1197His) rs755156050 0.00002
NM_020297.4(ABCC9):c.1012-2A>G rs1345994016 0.00001
NM_020297.4(ABCC9):c.1130T>C (p.Ile377Thr) rs368908490 0.00001
NM_020297.4(ABCC9):c.1252G>A (p.Ala418Thr) rs781206225 0.00001
NM_020297.4(ABCC9):c.1603T>C (p.Tyr535His) rs397517184 0.00001
NM_020297.4(ABCC9):c.1805T>C (p.Val602Ala) rs1555103539 0.00001
NM_020297.4(ABCC9):c.1858C>T (p.Arg620Ter) rs1024095026 0.00001
NM_020297.4(ABCC9):c.2198+6T>C rs1057522523 0.00001
NM_020297.4(ABCC9):c.2330A>C (p.Asn777Thr) rs1945595014 0.00001
NM_020297.4(ABCC9):c.2813G>A (p.Arg938Gln) rs201838439 0.00001
NM_020297.4(ABCC9):c.2865A>T (p.Glu955Asp) rs922212635 0.00001
NM_020297.4(ABCC9):c.289C>T (p.Arg97Trp) rs727502875 0.00001
NM_020297.4(ABCC9):c.2951G>A (p.Arg984His) rs148752791 0.00001
NM_020297.4(ABCC9):c.3227T>C (p.Ile1076Thr) rs1356591712 0.00001
NM_020297.4(ABCC9):c.3479T>G (p.Leu1160Arg) rs780799175 0.00001
NM_020297.4(ABCC9):c.3572A>G (p.Glu1191Gly) rs758873590 0.00001
NM_020297.4(ABCC9):c.3575C>A (p.Thr1192Asn) rs1475546623 0.00001
NM_020297.4(ABCC9):c.3644C>A (p.Ala1215Asp) rs960696268 0.00001
NM_020297.4(ABCC9):c.3896C>T (p.Pro1299Leu) rs794728957 0.00001
NM_020297.4(ABCC9):c.406G>T (p.Ala136Ser) rs1395854883 0.00001
NM_020297.4(ABCC9):c.4231T>C (p.Cys1411Arg) rs17846782 0.00001
NM_020297.4(ABCC9):c.466T>C (p.Cys156Arg) rs886049173 0.00001
NM_020297.4(ABCC9):c.728T>C (p.Ile243Thr) rs754113599 0.00001
NM_020297.4(ABCC9):c.1142T>A (p.Ile381Asn) rs397517181
NM_020297.4(ABCC9):c.1305G>A (p.Trp435Ter) rs1555113677
NM_020297.4(ABCC9):c.1333G>C (p.Val445Leu) rs2137852152
NM_020297.4(ABCC9):c.1501G>A (p.Gly501Ser) rs1057523010
NM_020297.4(ABCC9):c.1547A>C (p.Lys516Thr) rs1427379884
NM_020297.4(ABCC9):c.1618+2T>G rs1273224034
NM_020297.4(ABCC9):c.1901A>C (p.His634Pro) rs1555103438
NM_020297.4(ABCC9):c.1911+2T>C rs1131691589
NM_020297.4(ABCC9):c.1915C>T (p.Pro639Ser)
NM_020297.4(ABCC9):c.1919A>G (p.Lys640Arg) rs1555100847
NM_020297.4(ABCC9):c.2000C>A (p.Thr667Lys) rs397517186
NM_020297.4(ABCC9):c.2019G>A (p.Lys673=) rs794728954
NM_020297.4(ABCC9):c.2080C>T (p.Arg694Ter) rs1194330942
NM_020297.4(ABCC9):c.2164A>G (p.Met722Val)
NM_020297.4(ABCC9):c.2420A>C (p.Glu807Ala)
NM_020297.4(ABCC9):c.2470C>T (p.Arg824Ter) rs779866340
NM_020297.4(ABCC9):c.2511_2513delinsCCA (p.Pro838Gln)
NM_020297.4(ABCC9):c.2557G>A (p.Glu853Lys) rs1207537871
NM_020297.4(ABCC9):c.2608A>T (p.Thr870Ser) rs1057521460
NM_020297.4(ABCC9):c.2611C>G (p.His871Asp) rs2137443279
NM_020297.4(ABCC9):c.2708A>T (p.Asp903Val) rs2137441252
NM_020297.4(ABCC9):c.2746C>T (p.Arg916Trp) rs533032970
NM_020297.4(ABCC9):c.3201del (p.Leu1068fs) rs794728958
NM_020297.4(ABCC9):c.3222_3233delinsCC (p.Lys1075fs)
NM_020297.4(ABCC9):c.3371C>A (p.Ala1124Asp)
NM_020297.4(ABCC9):c.3473+4A>G rs794728956
NM_020297.4(ABCC9):c.3490G>A (p.Asp1164Asn) rs2137338519
NM_020297.4(ABCC9):c.3604A>G (p.Thr1202Ala) rs794728952
NM_020297.4(ABCC9):c.3698C>T (p.Thr1233Ile) rs1555179638
NM_020297.4(ABCC9):c.3749T>C (p.Leu1250Ser) rs2137194707
NM_020297.4(ABCC9):c.3757C>G (p.Leu1253Val) rs2137194656
NM_020297.4(ABCC9):c.3783T>A (p.Tyr1261Ter) rs794728953
NM_020297.4(ABCC9):c.3814C>G (p.Leu1272Val) rs1057523124
NM_020297.4(ABCC9):c.3838_3841delinsGTTTCCTGCACCAGATGGGTGC (p.Lys1280_Lys1281delinsValSerCysThrArgTrpValGln)
NM_020297.4(ABCC9):c.3841_3842delinsGT (p.Lys1281Val) rs1064794431
NM_020297.4(ABCC9):c.3912A>C (p.Glu1304Asp) rs2137174598
NM_020297.4(ABCC9):c.3931G>C (p.Glu1311Gln)
NM_020297.4(ABCC9):c.3956T>C (p.Val1319Ala) rs748445967
NM_020297.4(ABCC9):c.4006A>C (p.Ile1336Leu)
NM_020297.4(ABCC9):c.4018C>G (p.Gln1340Glu) rs1158703930
NM_020297.4(ABCC9):c.410T>A (p.Leu137Gln)
NM_020297.4(ABCC9):c.4157G>A (p.Arg1386His) rs730880035
NM_020297.4(ABCC9):c.4196dup (p.Ser1400fs) rs730880370
NM_020297.4(ABCC9):c.4330G>C (p.Glu1444Gln) rs1941934047
NM_020297.4(ABCC9):c.4492C>T (p.Arg1498Trp) rs1020626669
NM_020297.4(ABCC9):c.4512+1G>A rs2137109938
NM_020297.4(ABCC9):c.4512+744_4512+746delinsAAAT rs869025349
NM_020297.4(ABCC9):c.4512+777_4512+778delinsAA
NM_020297.4(ABCC9):c.4628C>G (p.Ser1543Cys)
NM_020297.4(ABCC9):c.4630T>G (p.Phe1544Val) rs2137079941
NM_020297.4(ABCC9):c.599_601delinsCTG (p.Gln200_Lys201delinsProGlu) rs1555116594
NM_020297.4(ABCC9):c.758T>C (p.Ile253Thr)
NM_020297.4(ABCC9):c.931G>C (p.Gly311Arg) rs2137891274
NM_020297.4(ABCC9):c.977A>C (p.Asn326Thr)

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