ClinVar Miner

List of variants in gene ABCB11 reported as pathogenic for Progressive familial intrahepatic cholestasis 2

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Total variants: 12
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HGVS dbSNP
GRCh37/hg19 2q31.1(chr2:169824976-169830328) rs0
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.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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