ClinVar Miner

List of variants studied for benign recurrent intrahepatic cholestasis

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 380
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HGVS dbSNP gnomAD frequency
NM_003742.4(ABCB11):c.2344-17T>C rs853789 0.75457
NM_003742.4(ABCB11):c.909-15A>G rs2287618 0.72659
NM_003742.4(ABCB11):c.*236A>G rs473351 0.61693
NM_003742.4(ABCB11):c.1434+70C>T rs2287623 0.57088
NM_003742.4(ABCB11):c.1638+32T>C rs2241340 0.57009
NM_003742.4(ABCB11):c.1331T>C (p.Val444Ala) rs2287622 0.57004
NM_003742.4(ABCB11):c.1638+80C>T rs2241341 0.56946
NM_003742.4(ABCB11):c.*368G>A rs495714 0.47735
NM_003742.4(ABCB11):c.*420A>G rs496550 0.47337
NM_003742.4(ABCB11):c.2344-157T>G rs860510 0.47138
NM_003742.4(ABCB11):c.3084A>G (p.Ala1028=) rs497692 0.46166
NM_003742.4(ABCB11):c.2179-17C>A rs853772 0.45482
NM_003742.4(ABCB11):c.99-18T>C rs4148776 0.13692
NM_003742.4(ABCB11):c.908+108A>G rs4148780 0.13132
NM_003742.4(ABCB11):c.1309-93G>A rs55669065 0.07356
NM_003742.4(ABCB11):c.2029A>G (p.Met677Val) rs11568364 0.06201
NM_003742.4(ABCB11):c.402C>T (p.Ile134=) rs11568377 0.05330
NM_003742.4(ABCB11):c.270T>C (p.Phe90=) rs4148777 0.05096
NM_003742.4(ABCB11):c.3258A>G (p.Thr1086=) rs11568359 0.02682
NM_003742.4(ABCB11):c.2412A>G (p.Ala804=) rs11568373 0.02633
NM_003742.4(ABCB11):c.389+8G>A rs11568363 0.02444
NM_003742.4(ABCB11):c.1185G>A (p.Glu395=) rs57509552 0.01590
NM_003742.4(ABCB11):c.807T>C (p.Tyr269=) rs2287616 0.01137
NM_003742.4(ABCB11):c.108T>C (p.Asp36=) rs3815675 0.01118
NM_003742.4(ABCB11):c.77-17del rs11568375 0.01069
NM_003742.4(ABCB11):c.3556G>A (p.Glu1186Lys) rs1521808 0.00943
NM_001374385.1(ATP8B1):c.134A>C (p.Asn45Thr) rs146599962 0.00657
NM_003742.4(ABCB11):c.3330G>A (p.Ala1110=) rs113099601 0.00643
NM_003742.4(ABCB11):c.2093G>A (p.Arg698His) rs138642043 0.00495
NM_003742.4(ABCB11):c.2134T>C (p.Leu712=) rs191649793 0.00401
NM_003742.4(ABCB11):c.2943C>T (p.Tyr981=) rs145720664 0.00273
NM_001374385.1(ATP8B1):c.208G>A (p.Asp70Asn) rs34719006 0.00245
NM_003742.4(ABCB11):c.*237T>C rs548624200 0.00214
NM_001374385.1(ATP8B1):c.3016-19A>G rs139202277 0.00210
NM_003742.4(ABCB11):c.127G>A (p.Val43Ile) rs183406496 0.00197
NM_003742.4(ABCB11):c.156G>A (p.Arg52=) rs140587295 0.00145
NM_003742.4(ABCB11):c.1791G>T (p.Val597=) rs11568371 0.00145
NM_003742.4(ABCB11):c.*440G>A rs79130028 0.00112
NM_003742.4(ABCB11):c.1636C>A (p.Gln546Lys) rs111482608 0.00107
NM_001374385.1(ATP8B1):c.2931+14G>A rs34451179 0.00101
NM_003742.4(ABCB11):c.2811A>T (p.Gly937=) rs192375476 0.00101
NM_003742.4(ABCB11):c.1281C>T (p.Phe427=) rs11568360 0.00098
NM_001374385.1(ATP8B1):c.607A>G (p.Lys203Glu) rs56355310 0.00095
NM_003742.4(ABCB11):c.408C>T (p.Ser136=) rs183214630 0.00092
NM_003742.4(ABCB11):c.174C>T (p.Asp58=) rs11568362 0.00085
NM_003742.4(ABCB11):c.2101T>C (p.Ser701Pro) rs150572999 0.00079
NM_003742.4(ABCB11):c.3512T>C (p.Met1171Thr) rs183621659 0.00071
NM_003742.4(ABCB11):c.1772A>G (p.Asn591Ser) rs11568367 0.00054
NM_003742.4(ABCB11):c.167C>T (p.Ser56Leu) rs11568361 0.00052
NM_003742.4(ABCB11):c.2927A>G (p.Gln976Arg) rs199940188 0.00050
NM_003742.4(ABCB11):c.3524A>C (p.Lys1175Thr) rs200709879 0.00046
NM_003742.4(ABCB11):c.2087G>A (p.Arg696Gln) rs141862495 0.00040
NM_003742.4(ABCB11):c.2886A>G (p.Ala962=) rs201087979 0.00040
NM_003742.4(ABCB11):c.1605C>T (p.Ala535=) rs144848376 0.00039
NM_003742.4(ABCB11):c.2907G>A (p.Lys969=) rs201881755 0.00036
NM_003742.4(ABCB11):c.930C>T (p.Phe310=) rs372382608 0.00034
NM_003742.4(ABCB11):c.61G>A (p.Glu21Lys) rs377170187 0.00033
NM_003742.4(ABCB11):c.1248C>A (p.Ile416=) rs183390670 0.00032
NM_003742.4(ABCB11):c.1254T>C (p.Gly418=) rs140138979 0.00032
NM_003742.4(ABCB11):c.2594C>T (p.Ala865Val) rs118109635 0.00029
NM_003742.4(ABCB11):c.1434+14A>G rs201816834 0.00028
NM_003742.4(ABCB11):c.851T>C (p.Val284Ala) rs200739891 0.00025
NM_003742.4(ABCB11):c.1396C>A (p.Gln466Lys) rs200148505 0.00024
NM_003742.4(ABCB11):c.3846C>T (p.Asn1282=) rs369538863 0.00024
NM_003742.4(ABCB11):c.506G>A (p.Arg169His) rs200870815 0.00023
NM_003742.4(ABCB11):c.2768C>T (p.Thr923Ile) rs199514789 0.00017
NM_003742.4(ABCB11):c.1937G>A (p.Arg646Lys) rs756725213 0.00015
NM_003742.4(ABCB11):c.3170G>A (p.Arg1057Gln) rs200174512 0.00015
NM_003742.4(ABCB11):c.1062T>C (p.Tyr354=) rs376258647 0.00014
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.2036C>T (p.Ala679Val) rs200912109 0.00012
NM_003742.4(ABCB11):c.2092C>T (p.Arg698Cys) rs539087982 0.00012
NM_003742.4(ABCB11):c.1638+6C>G rs886055067 0.00011
NM_003742.4(ABCB11):c.235G>A (p.Val79Met) rs371965391 0.00011
NM_003742.4(ABCB11):c.3411+9C>T rs201287126 0.00011
NM_003742.4(ABCB11):c.890A>G (p.Glu297Gly) rs11568372 0.00011
NM_003742.4(ABCB11):c.1530C>A (p.Thr510=) rs374701109 0.00010
NM_003742.4(ABCB11):c.2783G>A (p.Arg928Gln) rs200488448 0.00010
NM_003742.4(ABCB11):c.3132T>C (p.Ala1044=) rs199974713 0.00010
NM_001374385.1(ATP8B1):c.1982T>C (p.Ile661Thr) rs121909100 0.00009
NM_003742.4(ABCB11):c.*316G>A rs560085646 0.00009
NM_003742.4(ABCB11):c.1774G>C (p.Glu592Gln) rs11568370 0.00009
NM_003742.4(ABCB11):c.2515A>G (p.Met839Val) rs372757355 0.00009
NM_003742.4(ABCB11):c.2565A>G (p.Gly855=) rs1014304470 0.00008
NM_003742.4(ABCB11):c.3848C>T (p.Ala1283Val) rs372886308 0.00007
NM_003742.4(ABCB11):c.2012-8T>G rs769910565 0.00006
NM_003742.4(ABCB11):c.2125G>A (p.Glu709Lys) rs201800225 0.00006
NM_003742.4(ABCB11):c.667C>T (p.Arg223Cys) rs199841445 0.00006
NM_001374385.1(ATP8B1):c.2286-2A>G rs377132123 0.00005
NM_003742.4(ABCB11):c.282C>T (p.Asp94=) rs775605577 0.00005
NM_001374385.1(ATP8B1):c.1325A>G (p.Asn442Ser) rs755385749 0.00004
NM_001374385.1(ATP8B1):c.2821C>T (p.Arg941Ter) rs374340059 0.00004
NM_003742.4(ABCB11):c.119G>A (p.Gly40Asp) rs951486880 0.00004
NM_003742.4(ABCB11):c.1468A>G (p.Asn490Asp) rs553076953 0.00004
NM_003742.4(ABCB11):c.3457C>T (p.Arg1153Cys) rs72549395 0.00004
NM_003742.4(ABCB11):c.810G>A (p.Glu270=) rs369671177 0.00004
NM_001374385.1(ATP8B1):c.2674G>A (p.Gly892Arg) rs121909098 0.00003
NM_003742.4(ABCB11):c.*252T>A rs886055060 0.00003
NM_003742.4(ABCB11):c.-64A>G rs1036640978 0.00003
NM_003742.4(ABCB11):c.1113A>G (p.Leu371=) rs369132677 0.00003
NM_003742.4(ABCB11):c.1198-7A>C rs752532486 0.00003
NM_003742.4(ABCB11):c.1244G>A (p.Arg415Gln) rs371656014 0.00003
NM_003742.4(ABCB11):c.1639-4C>T rs780324076 0.00003
NM_003742.4(ABCB11):c.1639-6A>G rs751634104 0.00003
NM_003742.4(ABCB11):c.1708G>A (p.Ala570Thr) rs886043807 0.00003
NM_003742.4(ABCB11):c.2037G>A (p.Ala679=) rs776223452 0.00003
NM_003742.4(ABCB11):c.2296G>A (p.Gly766Arg) rs763782349 0.00003
NM_003742.4(ABCB11):c.3411+10G>A rs188996270 0.00003
NM_003742.4(ABCB11):c.698T>C (p.Leu233Ser) rs758339239 0.00003
NM_001374385.1(ATP8B1):c.2546G>A (p.Arg849Gln) rs144656719 0.00002
NM_003742.4(ABCB11):c.-78C>T rs746730049 0.00002
NM_003742.4(ABCB11):c.1435-11A>G rs762147612 0.00002
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.3676C>T (p.Arg1226Cys) rs772241929 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.76+1G>A rs1413569310 0.00002
NM_001374385.1(ATP8B1):c.1799G>A (p.Arg600Gln) rs1202682161 0.00001
NM_001374385.1(ATP8B1):c.1804C>T (p.Arg602Ter) rs121909105 0.00001
NM_001374385.1(ATP8B1):c.1981A>G (p.Ile661Val) rs1555689790 0.00001
NM_001374385.1(ATP8B1):c.1993G>T (p.Glu665Ter) rs515726137 0.00001
NM_001374385.1(ATP8B1):c.2097+2T>C rs387906381 0.00001
NM_001374385.1(ATP8B1):c.279G>A (p.Ala93=) rs761575295 0.00001
NM_001374385.1(ATP8B1):c.2844del (p.Met947_Cys948insTer) rs752757689 0.00001
NM_001374385.1(ATP8B1):c.2932-3C>A rs1057523495 0.00001
NM_003742.4(ABCB11):c.*533C>A rs886055058 0.00001
NM_003742.4(ABCB11):c.*640G>C rs1351596156 0.00001
NM_003742.4(ABCB11):c.*670G>C rs1469256614 0.00001
NM_003742.4(ABCB11):c.-97T>C rs568098536 0.00001
NM_003742.4(ABCB11):c.1030G>A (p.Gly344Ser) rs750904445 0.00001
NM_003742.4(ABCB11):c.1156G>T (p.Gly386Ter) rs764125510 0.00001
NM_003742.4(ABCB11):c.1271A>C (p.Asn424Thr) rs371091982 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.1470C>T (p.Asn490=) rs747864916 0.00001
NM_003742.4(ABCB11):c.1493T>C (p.Ile498Thr) rs752043324 0.00001
NM_003742.4(ABCB11):c.1533C>T (p.Thr511=) rs765678675 0.00001
NM_003742.4(ABCB11):c.1550G>A (p.Arg517His) rs760750012 0.00001
NM_003742.4(ABCB11):c.1553A>G (p.Tyr518Cys) rs770750597 0.00001
NM_003742.4(ABCB11):c.1647C>T (p.Asp549=) rs1244153418 0.00001
NM_003742.4(ABCB11):c.1763C>T (p.Ala588Val) rs917981474 0.00001
NM_003742.4(ABCB11):c.1932G>A (p.Leu644=) rs750100537 0.00001
NM_003742.4(ABCB11):c.2016A>T (p.Ala672=) rs886055065 0.00001
NM_003742.4(ABCB11):c.2075+7T>A rs768511849 0.00001
NM_003742.4(ABCB11):c.2163T>C (p.Tyr721=) rs762791891 0.00001
NM_003742.4(ABCB11):c.2178+1G>A rs1459273753 0.00001
NM_003742.4(ABCB11):c.2202A>C (p.Glu734Asp) rs369865521 0.00001
NM_003742.4(ABCB11):c.2228G>C (p.Arg743Thr) rs372228971 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.2617G>A (p.Gly873Ser) rs559849564 0.00001
NM_003742.4(ABCB11):c.2629G>A (p.Gly877Arg) rs745557569 0.00001
NM_003742.4(ABCB11):c.2713T>C (p.Leu905=) rs763006206 0.00001
NM_003742.4(ABCB11):c.2769A>G (p.Thr923=) rs947068240 0.00001
NM_003742.4(ABCB11):c.2782C>T (p.Arg928Ter) rs756529333 0.00001
NM_003742.4(ABCB11):c.2783_2787dup (p.Lys930fs) rs752919965 0.00001
NM_003742.4(ABCB11):c.3057-12G>A rs748204442 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.3454C>T (p.Leu1152Phe) rs773929580 0.00001
NM_003742.4(ABCB11):c.3458G>A (p.Arg1153His) rs748862206 0.00001
NM_003742.4(ABCB11):c.3591G>C (p.Leu1197=) rs1454008881 0.00001
NM_003742.4(ABCB11):c.3633C>T (p.Asn1211=) rs772714766 0.00001
NM_003742.4(ABCB11):c.3647G>C (p.Gly1216Ala) rs769192036 0.00001
NM_003742.4(ABCB11):c.3687T>G (p.Ile1229Met) rs780956310 0.00001
NM_003742.4(ABCB11):c.3692G>A (p.Arg1231Gln) rs758069019 0.00001
NM_003742.4(ABCB11):c.3766-10C>T rs369104228 0.00001
NM_003742.4(ABCB11):c.3772C>T (p.Gln1258Ter) rs769983873 0.00001
NM_003742.4(ABCB11):c.3962G>A (p.Ser1321Asn) rs201693189 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
NM_003742.4(ABCB11):c.681C>A (p.Thr227=) rs1401834885 0.00001
NM_003742.4(ABCB11):c.800C>T (p.Thr267Met) rs886055069 0.00001
NM_003742.4(ABCB11):c.917A>G (p.Lys306Arg) rs1694321895 0.00001
GRCh37/hg19 2q31.1(chr2:169824976-169830328)
NM_001374385.1(ATP8B1):c.1081del (p.Tyr361fs)
NM_001374385.1(ATP8B1):c.1210_1213del (p.Leu404fs) rs1912544280
NM_001374385.1(ATP8B1):c.1214_1215del (p.Tyr405fs)
NM_001374385.1(ATP8B1):c.1246_1247del (p.His417fs)
NM_001374385.1(ATP8B1):c.1429+1G>T
NM_001374385.1(ATP8B1):c.1553C>G (p.Ser518Ter)
NM_001374385.1(ATP8B1):c.1581CTT[2] (p.Phe529del) rs756395915
NM_001374385.1(ATP8B1):c.1781T>A (p.Leu594Ter)
NM_001374385.1(ATP8B1):c.1798C>T (p.Arg600Trp)
NM_001374385.1(ATP8B1):c.1884del (p.Leu629fs)
NM_001374385.1(ATP8B1):c.1891C>T (p.Arg631Ter) rs775370485
NM_001374385.1(ATP8B1):c.1932+1G>A rs1568188537
NM_001374385.1(ATP8B1):c.1943del (p.Asn648fs)
NM_001374385.1(ATP8B1):c.2081T>A (p.Ile694Asn)
NM_001374385.1(ATP8B1):c.2164G>C (p.Ala722Pro)
NM_001374385.1(ATP8B1):c.2384_2392del (p.Gly795_Arg797del) rs2122653939
NM_001374385.1(ATP8B1):c.2418+5G>A
NM_001374385.1(ATP8B1):c.2558T>C (p.Phe853Ser)
NM_001374385.1(ATP8B1):c.2663C>T (p.Thr888Met) rs540027832
NM_001374385.1(ATP8B1):c.2800A>G (p.Arg934Gly)
NM_001374385.1(ATP8B1):c.2807_2810dup (p.Val938fs)
NM_001374385.1(ATP8B1):c.2876_2877del (p.Phe959fs)
NM_001374385.1(ATP8B1):c.2940C>G (p.Tyr980Ter)
NM_001374385.1(ATP8B1):c.2941G>A (p.Glu981Lys)
NM_001374385.1(ATP8B1):c.2989G>A (p.Val997Met)
NM_001374385.1(ATP8B1):c.3040C>T (p.Arg1014Ter) rs781213892
NM_001374385.1(ATP8B1):c.3131C>T (p.Ser1044Leu)
NM_001374385.1(ATP8B1):c.3400+2T>C
NM_001374385.1(ATP8B1):c.3490C>T (p.Arg1164Ter)
NM_001374385.1(ATP8B1):c.3494T>A (p.Phe1165Tyr) rs946672182
NM_001374385.1(ATP8B1):c.3531+1G>A
NM_001374385.1(ATP8B1):c.423G>A (p.Trp141Ter)
NM_001374385.1(ATP8B1):c.589_592delinsCTCCA (p.Gly197fs) rs1912903065
NM_001374385.1(ATP8B1):c.699-2A>G
NM_001374385.1(ATP8B1):c.736dup (p.Thr246fs)
NM_001374385.1(ATP8B1):c.773del (p.Thr258fs)
NM_001374385.1(ATP8B1):c.811A>T (p.Arg271Ter)
NM_001374385.1(ATP8B1):c.922G>A (p.Gly308Ser)
NM_001374385.1(ATP8B1):c.929dup (p.Ile311fs)
NM_003742.4(ABCB11):c.*26A>G rs762157709
NM_003742.4(ABCB11):c.*281T>G rs3732038
NM_003742.4(ABCB11):c.*406A>G rs1213193045
NM_003742.4(ABCB11):c.*509C>T rs886055059
NM_003742.4(ABCB11):c.-57C>T rs1695860361
NM_003742.4(ABCB11):c.1029dup (p.Gly344fs)
NM_003742.4(ABCB11):c.1081C>T (p.Gln361Ter)
NM_003742.4(ABCB11):c.1095T>C (p.Ser365=) rs1694080804
NM_003742.4(ABCB11):c.1100_1101dup (p.Val368Ter) rs1574462504
NM_003742.4(ABCB11):c.1124A>G (p.Asn375Ser) rs572222881
NM_003742.4(ABCB11):c.1131_1132del (p.Pro378fs) rs2105984736
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.1197+13C>T rs781492309
NM_003742.4(ABCB11):c.1197+2T>C rs886055068
NM_003742.4(ABCB11):c.1198-1G>C
NM_003742.4(ABCB11):c.1198-2A>C
NM_003742.4(ABCB11):c.1243C>T (p.Arg415Ter) rs913644236
NM_003742.4(ABCB11):c.1295G>C (p.Arg432Thr) rs121908935
NM_003742.4(ABCB11):c.1361T>G (p.Val454Gly) rs1558898919
NM_003742.4(ABCB11):c.1388C>T (p.Thr463Ile)
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.1434+5G>A
NM_003742.4(ABCB11):c.1435-13_1435-8del rs748716950
NM_003742.4(ABCB11):c.1460G>C (p.Arg487Pro) rs188824058
NM_003742.4(ABCB11):c.1484G>T (p.Arg495Ile)
NM_003742.4(ABCB11):c.1487A>T (p.Asp496Val)
NM_003742.4(ABCB11):c.150+3A>C rs387906354
NM_003742.4(ABCB11):c.151-9T>G
NM_003742.4(ABCB11):c.1523T>C (p.Phe508Ser)
NM_003742.4(ABCB11):c.1621A>C (p.Ile541Leu) rs979738325
NM_003742.4(ABCB11):c.1622T>C (p.Ile541Thr) rs753994013
NM_003742.4(ABCB11):c.1636C>T (p.Gln546Ter)
NM_003742.4(ABCB11):c.1679G>A (p.Ser560Asn)
NM_003742.4(ABCB11):c.1685G>A (p.Gly562Asp)
NM_003742.4(ABCB11):c.1687C>T (p.Gln563Ter)
NM_003742.4(ABCB11):c.1709C>T (p.Ala570Val)
NM_003742.4(ABCB11):c.1760C>A (p.Ser587Ter)
NM_003742.4(ABCB11):c.1789dup (p.Val597fs)
NM_003742.4(ABCB11):c.1809G>A (p.Lys603=)
NM_003742.4(ABCB11):c.180_181dup (p.Leu61fs)
NM_003742.4(ABCB11):c.1907A>G (p.Glu636Gly) rs199671371
NM_003742.4(ABCB11):c.1927T>C (p.Leu643=) rs1693471170
NM_003742.4(ABCB11):c.1943G>A (p.Gly648Asp)
NM_003742.4(ABCB11):c.1966_1967del (p.Leu656fs) rs1064797270
NM_003742.4(ABCB11):c.1996G>T (p.Glu666Ter)
NM_003742.4(ABCB11):c.2011+1G>T
NM_003742.4(ABCB11):c.2075+3A>G
NM_003742.4(ABCB11):c.2076-1G>A rs2105947080
NM_003742.4(ABCB11):c.2077G>C (p.Ala693Pro)
NM_003742.4(ABCB11):c.2086C>T (p.Arg696Trp)
NM_003742.4(ABCB11):c.208T>C (p.Phe70Leu) rs1695254190
NM_003742.4(ABCB11):c.2095T>C (p.Ser699Pro) rs867525294
NM_003742.4(ABCB11):c.2150_2156del (p.His717fs)
NM_003742.4(ABCB11):c.2178+1G>T
NM_003742.4(ABCB11):c.2178+2T>C rs1693198121
NM_003742.4(ABCB11):c.2179-1G>A rs2105935255
NM_003742.4(ABCB11):c.2272G>C (p.Gly758Arg)
NM_003742.4(ABCB11):c.2281_2282del (p.Gly761fs)
NM_003742.4(ABCB11):c.2298G>A (p.Gly766=) rs200087122
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>C
NM_003742.4(ABCB11):c.2343+1G>T rs774411820
NM_003742.4(ABCB11):c.2413A>G (p.Met805Val) rs1692231118
NM_003742.4(ABCB11):c.2418C>T (p.Gly806=)
NM_003742.4(ABCB11):c.2432del (p.Phe811fs)
NM_003742.4(ABCB11):c.2448G>A (p.Gln816=) rs2105912786
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.2519T>G (p.Leu840Arg)
NM_003742.4(ABCB11):c.2542del (p.Asp848fs)
NM_003742.4(ABCB11):c.257T>A (p.Met86Lys) rs1258387740
NM_003742.4(ABCB11):c.2593G>A (p.Ala865Thr) rs886055064
NM_003742.4(ABCB11):c.2629G>C (p.Gly877Arg)
NM_003742.4(ABCB11):c.2633_2636delinsAGAG (p.Met878_Ile879delinsLysArg)
NM_003742.4(ABCB11):c.2688del (p.Phe896fs)
NM_003742.4(ABCB11):c.2702G>T (p.Ser901Ile)
NM_003742.4(ABCB11):c.2703C>A (p.Ser901Arg)
NM_003742.4(ABCB11):c.2800G>A (p.Glu934Lys) rs755362375
NM_003742.4(ABCB11):c.2815-2A>G
NM_003742.4(ABCB11):c.2842C>T (p.Arg948Cys) rs1559183717
NM_003742.4(ABCB11):c.2905A>G (p.Lys969Glu) rs886055063
NM_003742.4(ABCB11):c.2913del (p.Phe971fs)
NM_003742.4(ABCB11):c.2944G>A (p.Gly982Arg) rs72549399
NM_003742.4(ABCB11):c.2T>C (p.Met1Thr)
NM_003742.4(ABCB11):c.3003A>G (p.Arg1001=)
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.3190T>C (p.Tyr1064His) rs886055062
NM_003742.4(ABCB11):c.3224del (p.Gln1075fs)
NM_003742.4(ABCB11):c.3233T>A (p.Ile1078Asn)
NM_003742.4(ABCB11):c.3326T>C (p.Leu1109Pro) rs1553545883
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.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.3491del (p.Val1164fs) rs755647308
NM_003742.4(ABCB11):c.3499G>T (p.Ala1167Ser) rs1691360150
NM_003742.4(ABCB11):c.3500C>T (p.Ala1167Val) rs1163343377
NM_003742.4(ABCB11):c.3510_3511insT (p.Met1171fs)
NM_003742.4(ABCB11):c.3546A>C (p.Glu1182Asp) rs887349193
NM_003742.4(ABCB11):c.3553A>G (p.Met1185Val) rs1691356249
NM_003742.4(ABCB11):c.3557A>G (p.Glu1186Gly)
NM_003742.4(ABCB11):c.3575C>A (p.Ala1192Glu) rs2105881962
NM_003742.4(ABCB11):c.3624T>A (p.Tyr1208Ter)
NM_003742.4(ABCB11):c.3628A>C (p.Thr1210Pro) rs1691232631
NM_003742.4(ABCB11):c.3662G>A (p.Arg1221Lys)
NM_003742.4(ABCB11):c.3728A>G (p.Asp1243Gly) rs761200259
NM_003742.4(ABCB11):c.3766-34A>G rs579275
NM_003742.4(ABCB11):c.3767dup (p.Val1257fs) rs387907317
NM_003742.4(ABCB11):c.379del (p.Thr127fs) rs1558927163
NM_003742.4(ABCB11):c.3803G>A (p.Arg1268Gln)
NM_003742.4(ABCB11):c.3804del (p.Thr1269fs) rs1231877314
NM_003742.4(ABCB11):c.3812T>A (p.Ile1271Asn)
NM_003742.4(ABCB11):c.3875G>A (p.Gly1292Glu) rs1553543921
NM_003742.4(ABCB11):c.390-1G>T rs1558917090
NM_003742.4(ABCB11):c.392T>A (p.Leu131Ter)
NM_003742.4(ABCB11):c.3945del (p.Thr1316fs) rs886043366
NM_003742.4(ABCB11):c.3946A>G (p.Thr1316Ala) rs1691168576
NM_003742.4(ABCB11):c.394C>T (p.Leu132=) rs1212884328
NM_003742.4(ABCB11):c.409G>T (p.Glu137Ter) rs1026511416
NM_003742.4(ABCB11):c.432dup (p.Tyr145fs)
NM_003742.4(ABCB11):c.435T>G (p.Tyr145Ter)
NM_003742.4(ABCB11):c.451G>A (p.Ala151Thr) rs776561679
NM_003742.4(ABCB11):c.477+8G>T rs745477056
NM_003742.4(ABCB11):c.489G>A (p.Trp163Ter)
NM_003742.4(ABCB11):c.567G>A (p.Trp189Ter)
NM_003742.4(ABCB11):c.583G>T (p.Val195Leu) rs762475940
NM_003742.4(ABCB11):c.585G>A (p.Val195=) rs11568365
NM_003742.4(ABCB11):c.611+2dup
NM_003742.4(ABCB11):c.611+5G>A
NM_003742.4(ABCB11):c.617_619del (p.Ile206del)
NM_003742.4(ABCB11):c.65C>G (p.Ser22Ter)
NM_003742.4(ABCB11):c.677C>T (p.Ser226Leu) rs1382100120
NM_003742.4(ABCB11):c.713G>A (p.Gly238Asp) rs72551306
NM_003742.4(ABCB11):c.713G>T (p.Gly238Val)
NM_003742.4(ABCB11):c.721C>T (p.Leu241=)
NM_003742.4(ABCB11):c.76+4A>G
NM_003742.4(ABCB11):c.77-16dup rs746419453
NM_003742.4(ABCB11):c.779G>A (p.Gly260Asp)
NM_003742.4(ABCB11):c.798del (p.Phe266fs)
NM_003742.4(ABCB11):c.807T>G (p.Tyr269Ter)
NM_003742.4(ABCB11):c.884dup (p.Gly296fs)
NM_003742.4(ABCB11):c.896G>A (p.Arg299Lys) rs2287617
NM_003742.4(ABCB11):c.908+1G>C rs147649016
NM_003742.4(ABCB11):c.908+1del rs1553469602
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.959_960del (p.Ile320fs) rs1418620415
NM_003742.4(ABCB11):c.98+2T>C
NM_003742.4(ABCB11):c.989G>A (p.Trp330Ter)
NM_003742.4(ABCB11):c.998T>A (p.Ile333Asn) rs1558909465

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