ClinVar Miner

List of variants in gene ABCB11 reported as pathogenic for abdominal and pelvic region disorder

Included ClinVar conditions (956):
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Gene type:
ClinVar version:
Total variants: 15
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GRCh37/hg19 2q31.1(chr2:169824976-169830328)
NM_003742.4(ABCB11):c.1295G>C (p.Arg432Thr) rs121908935
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.150+3A>C rs387906354
NM_003742.4(ABCB11):c.1723C>T (p.Arg575Ter) rs72549401
NM_003742.4(ABCB11):c.2012-8T>G rs769910565
NM_003742.4(ABCB11):c.2380C>T (p.Gln794Ter) rs1060499579
NM_003742.4(ABCB11):c.2783_2787dup (p.Lys930fs) rs752919965
NM_003742.4(ABCB11):c.3169C>T (p.Arg1057Ter) rs72549397
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.890A>G (p.Glu297Gly) rs11568372
NM_003742.4(ABCB11):c.908+1del rs1553469602

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