ClinVar Miner

List of variants in gene ABCB11 studied for Progressive familial intrahepatic cholestasis 2

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Total variants: 145
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HGVS dbSNP
GRCh37/hg19 2q31.1(chr2:169824976-169830328) rs0
NM_003742.4(ABCB11):c.*236A>G rs473351
NM_003742.4(ABCB11):c.*237T>C rs548624200
NM_003742.4(ABCB11):c.*252T>A rs886055060
NM_003742.4(ABCB11):c.*26A>G rs0
NM_003742.4(ABCB11):c.*281T>G rs3732038
NM_003742.4(ABCB11):c.*316G>A rs0
NM_003742.4(ABCB11):c.*368G>A rs495714
NM_003742.4(ABCB11):c.*406A>G rs0
NM_003742.4(ABCB11):c.*420A>G rs496550
NM_003742.4(ABCB11):c.*440G>A rs79130028
NM_003742.4(ABCB11):c.*509C>T rs886055059
NM_003742.4(ABCB11):c.*533C>A rs886055058
NM_003742.4(ABCB11):c.*640G>C rs0
NM_003742.4(ABCB11):c.*670G>C rs0
NM_003742.4(ABCB11):c.-57C>T rs0
NM_003742.4(ABCB11):c.-64A>G rs0
NM_003742.4(ABCB11):c.-78C>T rs746730049
NM_003742.4(ABCB11):c.-97T>C rs0
NM_003742.4(ABCB11):c.1030G>A (p.Gly344Ser) rs0
NM_003742.4(ABCB11):c.1062T>C (p.Tyr354=) rs376258647
NM_003742.4(ABCB11):c.108T>C (p.Asp36=) rs3815675
NM_003742.4(ABCB11):c.1095T>C (p.Ser365=) rs0
NM_003742.4(ABCB11):c.1100_1101dup (p.Val368Ter) rs1574462504
NM_003742.4(ABCB11):c.1113A>G (p.Leu371=) rs369132677
NM_003742.4(ABCB11):c.1124A>G (p.Asn375Ser) rs572222881
NM_003742.4(ABCB11):c.1185G>A (p.Glu395=) rs57509552
NM_003742.4(ABCB11):c.1197+13C>T rs0
NM_003742.4(ABCB11):c.1197+2T>C rs886055068
NM_003742.4(ABCB11):c.1198-7A>C rs752532486
NM_003742.4(ABCB11):c.119G>A (p.Gly40Asp) rs0
NM_003742.4(ABCB11):c.1244G>A (p.Arg415Gln) rs371656014
NM_003742.4(ABCB11):c.1254T>C (p.Gly418=) rs140138979
NM_003742.4(ABCB11):c.1271A>C (p.Asn424Thr) rs0
NM_003742.4(ABCB11):c.127G>A (p.Val43Ile) rs183406496
NM_003742.4(ABCB11):c.1281C>T (p.Phe427=) rs11568360
NM_003742.4(ABCB11):c.1331T>C (p.Val444Ala) rs2287622
NM_003742.4(ABCB11):c.1416T>A (p.Tyr472Ter) rs1558898789
NM_003742.4(ABCB11):c.1434+14A>G rs0
NM_003742.4(ABCB11):c.1435-11A>G rs0
NM_003742.4(ABCB11):c.1445A>G (p.Asp482Gly) rs72549402
NM_003742.4(ABCB11):c.1460G>A (p.Arg487His) rs188824058
NM_003742.4(ABCB11):c.1468A>G (p.Asn490Asp) rs0
NM_003742.4(ABCB11):c.1470C>T (p.Asn490=) rs747864916
NM_003742.4(ABCB11):c.150+3A>C rs387906354
NM_003742.4(ABCB11):c.1530C>A (p.Thr510=) rs374701109
NM_003742.4(ABCB11):c.1533C>T (p.Thr511=) rs765678675
NM_003742.4(ABCB11):c.1553A>G (p.Tyr518Cys) rs0
NM_003742.4(ABCB11):c.156G>A (p.Arg52=) rs140587295
NM_003742.4(ABCB11):c.1605C>T (p.Ala535=) rs144848376
NM_003742.4(ABCB11):c.1636C>A (p.Gln546Lys) rs111482608
NM_003742.4(ABCB11):c.1638+6C>G rs886055067
NM_003742.4(ABCB11):c.1639-4C>T rs780324076
NM_003742.4(ABCB11):c.1639-6A>G rs0
NM_003742.4(ABCB11):c.1647C>T (p.Asp549=) rs0
NM_003742.4(ABCB11):c.167C>T (p.Ser56Leu) rs11568361
NM_003742.4(ABCB11):c.1723C>T (p.Arg575Ter) rs72549401
NM_003742.4(ABCB11):c.1772A>G (p.Asn591Ser) rs11568367
NM_003742.4(ABCB11):c.1791G>T (p.Val597=) rs11568371
NM_003742.4(ABCB11):c.1927T>C (p.Leu643=) rs0
NM_003742.4(ABCB11):c.1932G>A (p.Leu644=) rs750100537
NM_003742.4(ABCB11):c.1937G>A (p.Arg646Lys) rs756725213
NM_003742.4(ABCB11):c.2012-8T>G rs769910565
NM_003742.4(ABCB11):c.2016A>T (p.Ala672=) rs886055065
NM_003742.4(ABCB11):c.2029A>G (p.Met677Val) rs11568364
NM_003742.4(ABCB11):c.2036C>T (p.Ala679Val) rs200912109
NM_003742.4(ABCB11):c.2075+7T>A rs768511849
NM_003742.4(ABCB11):c.2087G>A (p.Arg696Gln) rs141862495
NM_003742.4(ABCB11):c.208T>C (p.Phe70Leu) rs0
NM_003742.4(ABCB11):c.2092C>T (p.Arg698Cys) rs539087982
NM_003742.4(ABCB11):c.2093G>A (p.Arg698His) rs138642043
NM_003742.4(ABCB11):c.2095T>C (p.Ser699Pro) rs867525294
NM_003742.4(ABCB11):c.2101T>C (p.Ser701Pro) rs150572999
NM_003742.4(ABCB11):c.2134T>C (p.Leu712=) rs191649793
NM_003742.4(ABCB11):c.2163T>C (p.Tyr721=) rs762791891
NM_003742.4(ABCB11):c.2202A>C (p.Glu734Asp) rs0
NM_003742.4(ABCB11):c.2228G>C (p.Arg743Thr) rs0
NM_003742.4(ABCB11):c.2298G>A (p.Gly766=) rs200087122
NM_003742.4(ABCB11):c.2343+1G>T rs0
NM_003742.4(ABCB11):c.2412A>G (p.Ala804=) rs11568373
NM_003742.4(ABCB11):c.2413A>G (p.Met805Val) rs0
NM_003742.4(ABCB11):c.2515A>G (p.Met839Val) rs372757355
NM_003742.4(ABCB11):c.2565A>G (p.Gly855=) rs1014304470
NM_003742.4(ABCB11):c.257T>A (p.Met86Lys) rs1258387740
NM_003742.4(ABCB11):c.2593G>A (p.Ala865Thr) rs886055064
NM_003742.4(ABCB11):c.2594C>T (p.Ala865Val) rs118109635
NM_003742.4(ABCB11):c.270T>C (p.Phe90=) rs4148777
NM_003742.4(ABCB11):c.2768C>T (p.Thr923Ile) rs199514789
NM_003742.4(ABCB11):c.2769A>G (p.Thr923=) rs947068240
NM_003742.4(ABCB11):c.2783_2787dup (p.Lys930fs) rs752919965
NM_003742.4(ABCB11):c.2800G>A (p.Glu934Lys) rs755362375
NM_003742.4(ABCB11):c.2811A>T (p.Gly937=) rs192375476
NM_003742.4(ABCB11):c.2886A>G (p.Ala962=) rs201087979
NM_003742.4(ABCB11):c.2905A>G (p.Lys969Glu) rs886055063
NM_003742.4(ABCB11):c.2907G>A (p.Lys969=) rs201881755
NM_003742.4(ABCB11):c.2927A>G (p.Gln976Arg) rs199940188
NM_003742.4(ABCB11):c.2943C>T (p.Tyr981=) rs145720664
NM_003742.4(ABCB11):c.3057-12G>A rs0
NM_003742.4(ABCB11):c.3084A>G (p.Ala1028=) rs497692
NM_003742.4(ABCB11):c.3169C>T (p.Arg1057Ter) rs72549397
NM_003742.4(ABCB11):c.3170G>A (p.Arg1057Gln) rs200174512
NM_003742.4(ABCB11):c.3190T>C (p.Tyr1064His) rs886055062
NM_003742.4(ABCB11):c.3258A>G (p.Thr1086=) rs11568359
NM_003742.4(ABCB11):c.3330G>A (p.Ala1110=) rs113099601
NM_003742.4(ABCB11):c.3350G>A (p.Cys1117Tyr) rs754048936
NM_003742.4(ABCB11):c.3352G>A (p.Gly1118Ser) rs1574398620
NM_003742.4(ABCB11):c.3411+10G>A rs188996270
NM_003742.4(ABCB11):c.3411+9C>T rs201287126
NM_003742.4(ABCB11):c.3454C>T (p.Leu1152Phe) rs0
NM_003742.4(ABCB11):c.3457C>T (p.Arg1153Cys) rs72549395
NM_003742.4(ABCB11):c.3499G>T (p.Ala1167Ser) rs0
NM_003742.4(ABCB11):c.3500C>T (p.Ala1167Val) rs0
NM_003742.4(ABCB11):c.3512T>C (p.Met1171Thr) rs183621659
NM_003742.4(ABCB11):c.3524A>C (p.Lys1175Thr) rs200709879
NM_003742.4(ABCB11):c.3546A>C (p.Glu1182Asp) rs0
NM_003742.4(ABCB11):c.3553A>G (p.Met1185Val) rs0
NM_003742.4(ABCB11):c.3556G>A (p.Glu1186Lys) rs1521808
NM_003742.4(ABCB11):c.3591G>C (p.Leu1197=) rs0
NM_003742.4(ABCB11):c.3633C>T (p.Asn1211=) rs772714766
NM_003742.4(ABCB11):c.3766-10C>T rs369104228
NM_003742.4(ABCB11):c.3767dup (p.Val1257fs) rs387907317
NM_003742.4(ABCB11):c.379del (p.Thr127fs) rs1558927163
NM_003742.4(ABCB11):c.389+8G>A rs11568363
NM_003742.4(ABCB11):c.3946A>G (p.Thr1316Ala) rs0
NM_003742.4(ABCB11):c.394C>T (p.Leu132=) rs0
NM_003742.4(ABCB11):c.402C>T (p.Ile134=) rs11568377
NM_003742.4(ABCB11):c.408C>T (p.Ser136=) rs183214630
NM_003742.4(ABCB11):c.477+8G>T rs745477056
NM_003742.4(ABCB11):c.583G>T (p.Val195Leu) rs0
NM_003742.4(ABCB11):c.585G>A (p.Val195=) rs0
NM_003742.4(ABCB11):c.681C>A (p.Thr227=) rs0
NM_003742.4(ABCB11):c.77-17del rs11568375
NM_003742.4(ABCB11):c.800C>T (p.Thr267Met) rs886055069
NM_003742.4(ABCB11):c.807T>C (p.Tyr269=) rs2287616
NM_003742.4(ABCB11):c.810G>A (p.Glu270=) rs369671177
NM_003742.4(ABCB11):c.851T>C (p.Val284Ala) rs200739891
NM_003742.4(ABCB11):c.890A>G (p.Glu297Gly) rs11568372
NM_003742.4(ABCB11):c.896G>A (p.Arg299Lys) rs2287617
NM_003742.4(ABCB11):c.908+1del rs1553469602
NM_003742.4(ABCB11):c.909-15A>G rs2287618
NM_003742.4(ABCB11):c.917A>G (p.Lys306Arg) rs0
NM_003742.4(ABCB11):c.930C>T (p.Phe310=) rs372382608
NM_003742.4(ABCB11):c.936G>T (p.Gln312His) rs770497192
NM_003742.4(ABCB11):c.957A>G (p.Gly319=) rs7563233
NM_003742.4(ABCB11):c.998T>A (p.Ile333Asn) rs1558909465

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