ClinVar Miner

List of variants in gene ABCB11 studied for abdominal and pelvic region disorder

Included ClinVar conditions (956):
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Gene type:
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Total variants: 72
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HGVS dbSNP
GRCh37/hg19 2q31.1(chr2:169824976-169830328)
NM_003742.4(ABCB11):c.*193G>C rs886055061
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.*281T>G rs3732038
NM_003742.4(ABCB11):c.*368G>A rs495714
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.-78C>T rs746730049
NM_003742.4(ABCB11):c.108T>C (p.Asp36=) rs3815675
NM_003742.4(ABCB11):c.1100_1101dup (p.Val368Ter)
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+2T>C rs886055068
NM_003742.4(ABCB11):c.1295G>C (p.Arg432Thr) rs121908935
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.1445A>G (p.Asp482Gly) rs72549402
NM_003742.4(ABCB11):c.1460G>A (p.Arg487His) rs188824058
NM_003742.4(ABCB11):c.150+3A>C rs387906354
NM_003742.4(ABCB11):c.1638+6C>G rs886055067
NM_003742.4(ABCB11):c.1699G>A (p.Val567Ile) rs886055066
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.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.2075+7T>A rs768511849
NM_003742.4(ABCB11):c.2087G>A (p.Arg696Gln) rs141862495
NM_003742.4(ABCB11):c.2092C>T (p.Arg698Cys) rs539087982
NM_003742.4(ABCB11):c.2125G>A (p.Glu709Lys) rs201800225
NM_003742.4(ABCB11):c.2163T>C (p.Tyr721=) rs762791891
NM_003742.4(ABCB11):c.2380C>T (p.Gln794Ter) rs1060499579
NM_003742.4(ABCB11):c.2412A>G (p.Ala804=) rs11568373
NM_003742.4(ABCB11):c.2515A>G (p.Met839Val) rs372757355
NM_003742.4(ABCB11):c.257T>A (p.Met86Lys)
NM_003742.4(ABCB11):c.2593G>A (p.Ala865Thr) rs886055064
NM_003742.4(ABCB11):c.270T>C (p.Phe90=) rs4148777
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.2834G>A (p.Ser945Asn) rs200857579
NM_003742.4(ABCB11):c.2905A>G (p.Lys969Glu) rs886055063
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.3084A>G (p.Ala1028=) rs497692
NM_003742.4(ABCB11):c.3169C>T (p.Arg1057Ter) rs72549397
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.3326T>C (p.Leu1109Pro) rs1553545883
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)
NM_003742.4(ABCB11):c.3457C>T (p.Arg1153Cys) rs72549395
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.402C>T (p.Ile134=) rs11568377
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.890A>G (p.Glu297Gly) rs11568372
NM_003742.4(ABCB11):c.908+1del rs1553469602
NM_003742.4(ABCB11):c.909-15A>G rs2287618
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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