ClinVar Miner

List of variants in gene ABCB11 reported as pathogenic

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Gene type:
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Total variants: 175
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HGVS dbSNP gnomAD frequency
NM_003742.4(ABCB11):c.1460G>A (p.Arg487His) rs188824058 0.00013
NM_003742.4(ABCB11):c.1723C>T (p.Arg575Ter) rs72549401 0.00013
NM_003742.4(ABCB11):c.890A>G (p.Glu297Gly) rs11568372 0.00011
NM_003742.4(ABCB11):c.2012-8T>G rs769910565 0.00006
NM_003742.4(ABCB11):c.3457C>T (p.Arg1153Cys) rs72549395 0.00004
NM_003742.4(ABCB11):c.1708G>A (p.Ala570Thr) rs886043807 0.00003
NM_003742.4(ABCB11):c.2296G>A (p.Gly766Arg) rs763782349 0.00003
NM_003742.4(ABCB11):c.698T>C (p.Leu233Ser) rs758339239 0.00003
NM_003742.4(ABCB11):c.908+1G>A rs147649016 0.00003
NM_003742.4(ABCB11):c.154C>T (p.Arg52Trp) rs763526610 0.00002
NM_003742.4(ABCB11):c.3268C>T (p.Arg1090Ter) rs72549396 0.00002
NM_003742.4(ABCB11):c.3669G>C (p.Glu1223Asp) rs199649780 0.00002
NM_003742.4(ABCB11):c.3691C>T (p.Arg1231Trp) rs766285158 0.00002
NM_003742.4(ABCB11):c.3703C>T (p.Arg1235Ter) rs866839234 0.00002
NM_003742.4(ABCB11):c.1156G>T (p.Gly386Ter) rs764125510 0.00001
NM_003742.4(ABCB11):c.1408C>T (p.Arg470Ter) rs774824767 0.00001
NM_003742.4(ABCB11):c.1415A>G (p.Tyr472Cys) rs369860506 0.00001
NM_003742.4(ABCB11):c.1445A>G (p.Asp482Gly) rs72549402 0.00001
NM_003742.4(ABCB11):c.1493T>C (p.Ile498Thr) rs752043324 0.00001
NM_003742.4(ABCB11):c.1550G>A (p.Arg517His) rs760750012 0.00001
NM_003742.4(ABCB11):c.164C>A (p.Ser55Ter) rs1447134419 0.00001
NM_003742.4(ABCB11):c.1763C>T (p.Ala588Val) rs917981474 0.00001
NM_003742.4(ABCB11):c.2178+1G>A rs1459273753 0.00001
NM_003742.4(ABCB11):c.22C>T (p.Arg8Ter) rs886043986 0.00001
NM_003742.4(ABCB11):c.2380C>T (p.Gln794Ter) rs1060499579 0.00001
NM_003742.4(ABCB11):c.2494C>T (p.Arg832Cys) rs772294884 0.00001
NM_003742.4(ABCB11):c.3148C>T (p.Arg1050Cys) rs72549398 0.00001
NM_003742.4(ABCB11):c.3169C>T (p.Arg1057Ter) rs72549397 0.00001
NM_003742.4(ABCB11):c.3383G>A (p.Arg1128His) rs756220860 0.00001
NM_003742.4(ABCB11):c.3458G>A (p.Arg1153His) rs748862206 0.00001
NM_003742.4(ABCB11):c.3692G>A (p.Arg1231Gln) rs758069019 0.00001
NM_003742.4(ABCB11):c.3772C>T (p.Gln1258Ter) rs769983873 0.00001
NM_003742.4(ABCB11):c.403G>A (p.Glu135Lys) rs752992432 0.00001
NM_003742.4(ABCB11):c.499G>A (p.Ala167Thr) rs139641883 0.00001
NM_003742.4(ABCB11):c.611+1G>A rs769134865 0.00001
GRCh37/hg19 2q31.1(chr2:169824976-169830328)
NC_000002.11:g.(?_169820706)_(169825010_?)del
NC_000002.11:g.(?_169869772)_(169873319_?)del
NC_000002.12:g.(?_168923612)_(168924813_?)del
NC_000002.12:g.(?_168935174)_(168935435_?)del
NM_003742.4(ABCB11):c.1029C>G (p.Tyr343Ter)
NM_003742.4(ABCB11):c.1029dup (p.Gly344fs)
NM_003742.4(ABCB11):c.1069G>T (p.Gly357Ter) rs886043935
NM_003742.4(ABCB11):c.1081C>T (p.Gln361Ter)
NM_003742.4(ABCB11):c.1146_1166del (p.Phe383_Ala389del) rs1553468235
NM_003742.4(ABCB11):c.1160G>A (p.Arg387His)
NM_003742.4(ABCB11):c.1198-1G>C
NM_003742.4(ABCB11):c.1243C>T (p.Arg415Ter) rs913644236
NM_003742.4(ABCB11):c.1259T>C (p.Ile420Thr)
NM_003742.4(ABCB11):c.1271del (p.Asn424fs) rs886043703
NM_003742.4(ABCB11):c.1295G>C (p.Arg432Thr) rs121908935
NM_003742.4(ABCB11):c.1354_1427del (p.Ala452fs) rs1574453486
NM_003742.4(ABCB11):c.1381A>G (p.Lys461Glu)
NM_003742.4(ABCB11):c.1396C>T (p.Gln466Ter)
NM_003742.4(ABCB11):c.1405C>T (p.Gln469Ter) rs2105967973
NM_003742.4(ABCB11):c.1409G>A (p.Arg470Gln) rs1463057954
NM_003742.4(ABCB11):c.1416T>A (p.Tyr472Ter) rs1558898789
NM_003742.4(ABCB11):c.1417_1418insTGATTCCTTC (p.Asp473fs) rs1574453508
NM_003742.4(ABCB11):c.1422del (p.Cys475fs) rs2105967878
NM_003742.4(ABCB11):c.1429G>T (p.Gly477Ter) rs2105967839
NM_003742.4(ABCB11):c.1460G>C (p.Arg487Pro) rs188824058
NM_003742.4(ABCB11):c.1487A>T (p.Asp496Val)
NM_003742.4(ABCB11):c.150+1G>A rs886043875
NM_003742.4(ABCB11):c.150+3A>C rs387906354
NM_003742.4(ABCB11):c.1552_1555dup (p.Gly519fs)
NM_003742.4(ABCB11):c.1621A>C (p.Ile541Leu) rs979738325
NM_003742.4(ABCB11):c.1631del (p.Leu544fs) rs1553466489
NM_003742.4(ABCB11):c.1636C>T (p.Gln546Ter)
NM_003742.4(ABCB11):c.1654del (p.Val552fs) rs1693519718
NM_003742.4(ABCB11):c.1672C>T (p.Gln558Ter)
NM_003742.4(ABCB11):c.167C>G (p.Ser56Ter) rs11568361
NM_003742.4(ABCB11):c.1705dup (p.Ile569fs)
NM_003742.4(ABCB11):c.1756del (p.Thr586fs)
NM_003742.4(ABCB11):c.1760C>A (p.Ser587Ter)
NM_003742.4(ABCB11):c.1789dup (p.Val597fs)
NM_003742.4(ABCB11):c.179G>A (p.Trp60Ter)
NM_003742.4(ABCB11):c.1810-1G>A rs1553466082
NM_003742.4(ABCB11):c.1826_1827dup (p.Ile610fs) rs1693477912
NM_003742.4(ABCB11):c.1907A>T (p.Glu636Val)
NM_003742.4(ABCB11):c.1941del (p.Gly648fs) rs1470131264
NM_003742.4(ABCB11):c.1948del (p.Tyr650fs) rs1558894166
NM_003742.4(ABCB11):c.1966_1967del (p.Leu656fs) rs1064797270
NM_003742.4(ABCB11):c.1979del (p.Gly660fs)
NM_003742.4(ABCB11):c.2012-2A>G
NM_003742.4(ABCB11):c.2062C>T (p.Gln688Ter)
NM_003742.4(ABCB11):c.2075+3A>G
NM_003742.4(ABCB11):c.2150_2156del (p.His717fs)
NM_003742.4(ABCB11):c.2178+1G>C rs1459273753
NM_003742.4(ABCB11):c.2178+1G>T
NM_003742.4(ABCB11):c.2178+2T>C rs1693198121
NM_003742.4(ABCB11):c.2256G>A (p.Trp752Ter) rs1401892400
NM_003742.4(ABCB11):c.226C>T (p.Gln76Ter)
NM_003742.4(ABCB11):c.2316T>A (p.Tyr772Ter) rs1371940395
NM_003742.4(ABCB11):c.2316T>G (p.Tyr772Ter)
NM_003742.4(ABCB11):c.2319dup (p.Phe774fs) rs1692870573
NM_003742.4(ABCB11):c.2343+1G>T rs774411820
NM_003742.4(ABCB11):c.2343+2T>C rs2105934712
NM_003742.4(ABCB11):c.2349_2350del (p.Ser784fs)
NM_003742.4(ABCB11):c.2437C>T (p.Gln813Ter) rs2105912800
NM_003742.4(ABCB11):c.2443_2448delinsTTCAGTAAGTGATTTA (p.Leu815_Gln816delinsPheSerLysTer) rs1692230196
NM_003742.4(ABCB11):c.2451del (p.Tyr818fs) rs2105912644
NM_003742.4(ABCB11):c.2488del (p.Arg830fs) rs756323541
NM_003742.4(ABCB11):c.2495G>A (p.Arg832His) rs376255350
NM_003742.4(ABCB11):c.2495del (p.Arg832fs) rs1574415738
NM_003742.4(ABCB11):c.2541del (p.Phe847fs) rs1574415650
NM_003742.4(ABCB11):c.2542del (p.Asp848fs)
NM_003742.4(ABCB11):c.2561del (p.Pro854fs) rs2105912281
NM_003742.4(ABCB11):c.262_263del (p.Asp88fs) rs2106047848
NM_003742.4(ABCB11):c.279C>A (p.Tyr93Ter)
NM_003742.4(ABCB11):c.2942del (p.Tyr981fs)
NM_003742.4(ABCB11):c.2944G>A (p.Gly982Arg) rs72549399
NM_003742.4(ABCB11):c.2950del (p.Cys984fs) rs1559183490
NM_003742.4(ABCB11):c.2T>C (p.Met1Thr)
NM_003742.4(ABCB11):c.3011G>A (p.Gly1004Asp)
NM_003742.4(ABCB11):c.307C>T (p.Pro103Ser)
NM_003742.4(ABCB11):c.3129_3130delinsT (p.Lys1043fs)
NM_003742.4(ABCB11):c.3164T>C (p.Leu1055Pro) rs747153406
NM_003742.4(ABCB11):c.3174del (p.Gln1058fs) rs2105891349
NM_003742.4(ABCB11):c.3210del (p.Lys1070fs) rs2105891209
NM_003742.4(ABCB11):c.3213+1del rs1553546495
NM_003742.4(ABCB11):c.3272del (p.Pro1091fs)
NM_003742.4(ABCB11):c.3363_3391del (p.Ser1122_Ile1123insTer)
NM_003742.4(ABCB11):c.3379G>T (p.Glu1127Ter)
NM_003742.4(ABCB11):c.3382C>G (p.Arg1128Gly) rs764581483
NM_003742.4(ABCB11):c.3382C>T (p.Arg1128Cys) rs764581483
NM_003742.4(ABCB11):c.3400C>T (p.Gln1134Ter) rs2105888359
NM_003742.4(ABCB11):c.3401_3402insTAGAAGGTGGTAAGCCTTCTATGATCCTGATCA (p.Gln1134delinsHisArgArgTrpTer) rs2105888351
NM_003742.4(ABCB11):c.3438del (p.Lys1146_Val1147insTer)
NM_003742.4(ABCB11):c.3448C>T (p.Gln1150Ter)
NM_003742.4(ABCB11):c.345_346insTG (p.Asn116Ter)
NM_003742.4(ABCB11):c.3460T>C (p.Ser1154Pro)
NM_003742.4(ABCB11):c.3491del (p.Val1164fs) rs755647308
NM_003742.4(ABCB11):c.3510_3511insT (p.Met1171fs)
NM_003742.4(ABCB11):c.3628A>C (p.Thr1210Pro) rs1691232631
NM_003742.4(ABCB11):c.3636del (p.Ser1214fs) rs2105876276
NM_003742.4(ABCB11):c.3659_3660del (p.Leu1219_Ser1220insTer) rs1691231110
NM_003742.4(ABCB11):c.3662G>A (p.Arg1221Lys)
NM_003742.4(ABCB11):c.3728A>G (p.Asp1243Gly) rs761200259
NM_003742.4(ABCB11):c.3767dup (p.Val1257fs) rs387907317
NM_003742.4(ABCB11):c.3777del (p.Ala1260fs)
NM_003742.4(ABCB11):c.3787A>T (p.Lys1263Ter)
NM_003742.4(ABCB11):c.379del (p.Thr127fs) rs1558927163
NM_003742.4(ABCB11):c.3802C>T (p.Arg1268Trp) rs555881834
NM_003742.4(ABCB11):c.3803G>A (p.Arg1268Gln)
NM_003742.4(ABCB11):c.3804del (p.Thr1269fs) rs1231877314
NM_003742.4(ABCB11):c.3880del (p.Val1293_Val1294insTer)
NM_003742.4(ABCB11):c.3890dup (p.Thr1299fs)
NM_003742.4(ABCB11):c.390-1G>T rs1558917090
NM_003742.4(ABCB11):c.3904G>T (p.Glu1302Ter) rs1691171678
NM_003742.4(ABCB11):c.409G>T (p.Glu137Ter) rs1026511416
NM_003742.4(ABCB11):c.483C>A (p.Cys161Ter) rs777119489
NM_003742.4(ABCB11):c.532del (p.Tyr178fs) rs2106013953
NM_003742.4(ABCB11):c.567G>A (p.Trp189Ter)
NM_003742.4(ABCB11):c.611+2dup
NM_003742.4(ABCB11):c.625dup (p.Ile209fs) rs2106010917
NM_003742.4(ABCB11):c.65C>G (p.Ser22Ter)
NM_003742.4(ABCB11):c.664C>T (p.Gln222Ter) rs1292921760
NM_003742.4(ABCB11):c.677C>T (p.Ser226Leu) rs1382100120
NM_003742.4(ABCB11):c.695del (p.Leu232fs)
NM_003742.4(ABCB11):c.721C>T (p.Leu241=)
NM_003742.4(ABCB11):c.74C>A (p.Ser25Ter)
NM_003742.4(ABCB11):c.779G>A (p.Gly260Asp)
NM_003742.4(ABCB11):c.793A>T (p.Lys265Ter) rs2106005174
NM_003742.4(ABCB11):c.843del (p.Asp282fs) rs2106004956
NM_003742.4(ABCB11):c.847G>T (p.Glu283Ter) rs1558912774
NM_003742.4(ABCB11):c.884dup (p.Gly296fs)
NM_003742.4(ABCB11):c.906_907insTGGGAGAAAATTTTTGCAACCTACTCATCTGACAAAGGGCTAATATCCAGAATCTACAATGACCTCAAACAAATNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAGAAAAGAGAGGTTGAA (p.Arg303delinsTrpGluLysIlePheAlaThrTyrSerSerAspLysGlyLeuIleSerArgIleTyrAsnAspLeuLysGlnXaaXaaXaaXaaLysLysLysLysLysLysLysGluLysArgGlyTer) rs2106004684
NM_003742.4(ABCB11):c.908+1G>C rs147649016
NM_003742.4(ABCB11):c.908+1G>T rs147649016
NM_003742.4(ABCB11):c.908+1del rs1553469602
NM_003742.4(ABCB11):c.912T>A (p.Tyr304Ter)
NM_003742.4(ABCB11):c.919_920del (p.Asn307fs)
NM_003742.4(ABCB11):c.934C>T (p.Gln312Ter)
NM_003742.4(ABCB11):c.959_960del (p.Ile320fs) rs1418620415
NM_003742.4(ABCB11):c.99-2A>G

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