ClinVar Miner

List of variants in gene ABCC9 studied for multiple congenital anomalies/dysmorphic syndrome

Included ClinVar conditions (856):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 144
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HGVS dbSNP gnomAD frequency
NM_020297.4(ABCC9):c.1660-43C>A rs704216 0.99827
NM_020297.4(ABCC9):c.2199-11= rs697250 0.99814
NM_020297.4(ABCC9):c.1296= (p.Pro432=) rs10770865 0.99692
NM_020297.4(ABCC9):c.1164+11= rs4762720 0.98998
NM_020297.4(ABCC9):c.1164+23= rs4762719 0.98997
NM_020297.4(ABCC9):c.1660-66G>A rs704217 0.65694
NM_020297.4(ABCC9):c.406+38A>C rs2277405 0.64547
NM_020297.4(ABCC9):c.406+305A>T rs2176394 0.62792
NM_020297.4(ABCC9):c.1912-66G>A rs1356368 0.61280
NM_020297.4(ABCC9):c.1012-59T>C rs4148654 0.61169
NM_020297.4(ABCC9):c.574-5C>A rs3759236 0.59559
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.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.1677G>A (p.Ala559=) rs76458291 0.00193
NM_020297.4(ABCC9):c.2826T>C (p.Tyr942=) rs141025897 0.00092
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.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.3315+17C>T rs200692327 0.00023
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.1987C>T (p.Arg663Cys) rs200349671 0.00014
NM_020297.4(ABCC9):c.3316-4A>C rs201147809 0.00014
NM_020297.4(ABCC9):c.2339+13A>G rs189255166 0.00012
NM_020297.4(ABCC9):c.142+10C>A rs138917284 0.00007
NM_020297.4(ABCC9):c.1979G>A (p.Arg660Gln) rs150255709 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.-11T>C rs72559432 0.00004
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.3061G>A (p.Glu1021Lys) rs749668601 0.00004
NM_020297.4(ABCC9):c.3589C>T (p.Arg1197Cys) rs778849288 0.00004
NM_020297.4(ABCC9):c.4205C>G (p.Ser1402Cys) rs369587958 0.00004
NM_020297.4(ABCC9):c.1012-7G>A rs727502874 0.00003
NM_020297.4(ABCC9):c.1329G>A (p.Met443Ile) rs151197166 0.00003
NM_020297.4(ABCC9):c.1981C>T (p.Arg661Cys) rs199499109 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.3357G>A (p.Leu1119=) rs2287626 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.200C>T (p.Pro67Leu) rs766600615 0.00002
NM_020297.4(ABCC9):c.3462G>A (p.Arg1154=) rs1336342134 0.00002
NM_020297.4(ABCC9):c.3590G>A (p.Arg1197His) rs755156050 0.00002
NM_020297.4(ABCC9):c.575G>A (p.Arg192Lys) rs727504612 0.00002
NM_020297.4(ABCC9):c.1012-2A>G rs1345994016 0.00001
NM_020297.4(ABCC9):c.1129A>G (p.Ile377Val) rs567016348 0.00001
NM_020297.4(ABCC9):c.1147C>T (p.Leu383Phe) rs755542764 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.1671C>A (p.Thr557=) rs746467455 0.00001
NM_020297.4(ABCC9):c.1743G>A (p.Leu581=) rs777049470 0.00001
NM_020297.4(ABCC9):c.1875G>A (p.Ser625=) rs727502873 0.00001
NM_020297.4(ABCC9):c.1877T>C (p.Leu626Pro) rs1002300338 0.00001
NM_020297.4(ABCC9):c.1978C>T (p.Arg660Trp) rs760889253 0.00001
NM_020297.4(ABCC9):c.2158G>A (p.Gly720Ser) rs542184069 0.00001
NM_020297.4(ABCC9):c.2199-6T>C rs535477725 0.00001
NM_020297.4(ABCC9):c.2215C>G (p.Pro739Ala) rs201223488 0.00001
NM_020297.4(ABCC9):c.2769+12T>C rs564071879 0.00001
NM_020297.4(ABCC9):c.2865A>T (p.Glu955Asp) rs922212635 0.00001
NM_020297.4(ABCC9):c.3556C>T (p.Arg1186Trp) rs886049169 0.00001
NM_020297.4(ABCC9):c.3669+10T>C rs199640712 0.00001
NM_020297.4(ABCC9):c.395A>G (p.Lys132Arg) rs727505161 0.00001
NM_020297.4(ABCC9):c.4103-14T>C rs1462468885 0.00001
NM_020297.4(ABCC9):c.4189A>G (p.Ile1397Val) rs1162169303 0.00001
NM_020297.4(ABCC9):c.4316-14T>G rs886049168 0.00001
NM_020297.4(ABCC9):c.466T>C (p.Cys156Arg) rs886049173 0.00001
NM_020297.4(ABCC9):c.5G>A (p.Ser2Asn) rs1359649036 0.00001
NM_020297.4(ABCC9):c.842G>A (p.Arg281Gln) rs753456211 0.00001
NM_020297.4(ABCC9):c.1008T>C (p.Thr336=) rs778283866
NM_020297.4(ABCC9):c.1011+100dup rs3835048
NM_020297.4(ABCC9):c.1165-4del rs886049172
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.1247T>C (p.Leu416Ser) rs1948252880
NM_020297.4(ABCC9):c.133T>C (p.Leu45=) rs1555125400
NM_020297.4(ABCC9):c.1375G>A (p.Gly459Ser) rs1060503051
NM_020297.4(ABCC9):c.1433C>T (p.Ala478Val) rs387907211
NM_020297.4(ABCC9):c.146G>C (p.Trp49Ser) rs886049175
NM_020297.4(ABCC9):c.1657G>T (p.Ala553Ser) rs2137747839
NM_020297.4(ABCC9):c.1670C>G (p.Thr557Ser) rs886049171
NM_020297.4(ABCC9):c.1703C>T (p.Pro568Leu) rs1592166720
NM_020297.4(ABCC9):c.178C>T (p.His60Tyr) rs387907230
NM_020297.4(ABCC9):c.1975A>G (p.Thr659Ala) rs878854783
NM_020297.4(ABCC9):c.1992C>T (p.Pro664=) rs780071007
NM_020297.4(ABCC9):c.2080C>T (p.Arg694Ter) rs1194330942
NM_020297.4(ABCC9):c.2238-16del rs886049170
NM_020297.4(ABCC9):c.2238-17del rs4148670
NM_020297.4(ABCC9):c.2470C>T (p.Arg824Ter) rs779866340
NM_020297.4(ABCC9):c.2481T>C (p.Tyr827=) rs1945402350
NM_020297.4(ABCC9):c.2644-11G>A rs61926078
NM_020297.4(ABCC9):c.2769+28A>C rs2307024
NM_020297.4(ABCC9):c.2818G>T (p.Ala940Ser) rs1373377020
NM_020297.4(ABCC9):c.2863G>A (p.Glu955Lys) rs1452956891
NM_020297.4(ABCC9):c.2954A>C (p.Tyr985Ser) rs2137395750
NM_020297.4(ABCC9):c.295T>A (p.Ser99Thr) rs1270249014
NM_020297.4(ABCC9):c.3058T>C (p.Ser1020Pro) rs387907229
NM_020297.4(ABCC9):c.3128G>A (p.Cys1043Tyr) rs387907210
NM_020297.4(ABCC9):c.3141T>C (p.Ile1047=) rs1944562003
NM_020297.4(ABCC9):c.3190G>C (p.Ala1064Pro) rs1944560174
NM_020297.4(ABCC9):c.3203T>C (p.Leu1068Pro) rs2137388078
NM_020297.4(ABCC9):c.3308T>C (p.Ile1103Thr)
NM_020297.4(ABCC9):c.3346C>T (p.Arg1116Cys) rs387907228
NM_020297.4(ABCC9):c.3347G>A (p.Arg1116His) rs387907227
NM_020297.4(ABCC9):c.3460C>T (p.Arg1154Trp) rs387907208
NM_020297.4(ABCC9):c.3461G>A (p.Arg1154Gln) rs387907209
NM_020297.4(ABCC9):c.3605C>T (p.Thr1202Met) rs2137272605
NM_020297.4(ABCC9):c.3650G>A (p.Arg1217Lys) rs12298510
NM_020297.4(ABCC9):c.366T>C (p.Tyr122=) rs886049174
NM_020297.4(ABCC9):c.4014del (p.Gly1339fs) rs2137173765
NM_020297.4(ABCC9):c.4196dup (p.Ser1400fs) rs730880370
NM_020297.4(ABCC9):c.4375C>T (p.Leu1459Phe)
NM_020297.4(ABCC9):c.4450-6_4450-5del rs4148680
NM_020297.4(ABCC9):c.4512+687C>A
NM_020297.4(ABCC9):c.4512+693G>T rs876657737
NM_020297.4(ABCC9):c.4512+746_4512+747insT rs761784169
NM_020297.4(ABCC9):c.4512+824G>C rs1941745235
NM_020297.4(ABCC9):c.669G>T (p.Leu223=) rs17846788
NM_020297.4(ABCC9):c.6C>T (p.Ser2=) rs765382139
NM_020297.4(ABCC9):c.723G>T (p.Lys241Asn) rs1948578084
NM_020297.4(ABCC9):c.7C>G (p.Leu3Val) rs976596252
NM_020297.4(ABCC9):c.878T>C (p.Phe293Ser) rs1057516044
NM_020297.4(ABCC9):c.881G>A (p.Gly294Glu) rs1555115054

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