ClinVar Miner

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

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Total variants: 91
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HGVS dbSNP
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.*406A>G rs0
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.1030G>A (p.Gly344Ser) rs0
NM_003742.4(ABCB11):c.1062T>C (p.Tyr354=) rs376258647
NM_003742.4(ABCB11):c.1095T>C (p.Ser365=) rs0
NM_003742.4(ABCB11):c.1113A>G (p.Leu371=) rs369132677
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.1434+14A>G rs0
NM_003742.4(ABCB11):c.1435-11A>G rs0
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.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.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.1927T>C (p.Leu643=) rs0
NM_003742.4(ABCB11):c.1937G>A (p.Arg646Lys) rs756725213
NM_003742.4(ABCB11):c.2016A>T (p.Ala672=) rs886055065
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.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.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.2593G>A (p.Ala865Thr) rs886055064
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.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.3170G>A (p.Arg1057Gln) rs200174512
NM_003742.4(ABCB11):c.3190T>C (p.Tyr1064His) rs886055062
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.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.3591G>C (p.Leu1197=) rs0
NM_003742.4(ABCB11):c.3633C>T (p.Asn1211=) rs772714766
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.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.800C>T (p.Thr267Met) rs886055069
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.917A>G (p.Lys306Arg) rs0
NM_003742.4(ABCB11):c.930C>T (p.Phe310=) rs372382608
NM_003742.4(ABCB11):c.998T>A (p.Ile333Asn) rs1558909465

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