ClinVar Miner

List of variants studied for cholestasis by Illumina Laboratory Services, Illumina

Included ClinVar conditions (33):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 366
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HGVS dbSNP gnomAD frequency
NM_001374385.1(ATP8B1):c.696T>C (p.Asp232=) rs319438 0.99384
NM_001374385.1(ATP8B1):c.811A>C (p.Arg271=) rs319443 0.99084
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.1331T>C (p.Val444Ala) rs2287622 0.57004
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.3084A>G (p.Ala1028=) rs497692 0.46166
NM_000443.4(ABCB4):c.504C>T (p.Asn168=) rs1202283 0.41352
NM_001374385.1(ATP8B1):c.-106C>T rs1848701 0.38084
NM_001374385.1(ATP8B1):c.*1509A>G rs1968274 0.25162
NM_000443.4(ABCB4):c.175C>T (p.Leu59=) rs2302387 0.23630
NM_000443.4(ABCB4):c.711A>T (p.Ile237=) rs2109505 0.22260
NM_001374385.1(ATP8B1):c.*1254T>C rs17685852 0.20609
NM_001374385.1(ATP8B1):c.*1937T>A rs1129621 0.20604
NM_001374385.1(ATP8B1):c.3532-15C>T rs12958967 0.19806
NM_000443.4(ABCB4):c.1954A>G (p.Arg652Gly) rs2230028 0.15795
NM_001374385.1(ATP8B1):c.3531+8G>T rs34027711 0.12129
NM_001374385.1(ATP8B1):c.*1723G>A rs11543269 0.09080
NM_001374385.1(ATP8B1):c.2855G>A (p.Arg952Gln) rs12968116 0.08072
NM_001374385.1(ATP8B1):c.*283G>A rs11152024 0.07759
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_032830.3(UTP4):c.714C>T (p.Asp238=) rs2288036 0.04782
NM_032830.3(UTP4):c.1906C>T (p.Arg636Cys) rs61185783 0.03200
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_000443.4(ABCB4):c.2363G>A (p.Arg788Gln) rs8187801 0.02594
NM_003742.4(ABCB11):c.389+8G>A rs11568363 0.02444
NM_032830.3(UTP4):c.*68A>G rs74886619 0.01911
NM_001374385.1(ATP8B1):c.3016-9C>A rs34729241 0.01910
NM_000443.4(ABCB4):c.147C>T (p.Ser49=) rs8187789 0.01759
NM_000443.4(ABCB4):c.459T>C (p.Phe153=) rs2230027 0.01640
NM_003742.4(ABCB11):c.1185G>A (p.Glu395=) rs57509552 0.01590
NM_001374385.1(ATP8B1):c.1739G>A (p.Ser580Asn) rs33963153 0.01293
NM_000443.4(ABCB4):c.-6-4T>C rs8187785 0.01231
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_000443.4(ABCB4):c.2325G>C (p.Thr775=) rs8187802 0.01001
NM_001374385.1(ATP8B1):c.*11C>T rs34255016 0.00974
NM_003742.4(ABCB11):c.3556G>A (p.Glu1186Lys) rs1521808 0.00943
NM_000443.4(ABCB4):c.523A>G (p.Thr175Ala) rs58238559 0.00910
NM_000443.4(ABCB4):c.1584G>C (p.Glu528Asp) rs8187797 0.00888
NM_001374385.1(ATP8B1):c.*888C>G rs149436273 0.00683
NM_032830.3(UTP4):c.1257T>C (p.Asn419=) rs149792921 0.00658
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_000443.4(ABCB4):c.1769G>A (p.Arg590Gln) rs45575636 0.00625
NM_001374385.1(ATP8B1):c.2664G>T (p.Thr888=) rs35757087 0.00529
NM_032830.3(UTP4):c.1313G>A (p.Arg438His) rs8056684 0.00522
NM_032830.3(UTP4):c.270G>A (p.Ala90=) rs16958656 0.00501
NM_003742.4(ABCB11):c.2093G>A (p.Arg698His) rs138642043 0.00495
NM_000443.4(ABCB4):c.1314G>A (p.Thr438=) rs45624933 0.00490
NM_001374385.1(ATP8B1):c.2789G>A (p.Arg930Gln) rs35623014 0.00451
NM_001374385.1(ATP8B1):c.-25-6T>C rs35671095 0.00443
NM_001374385.1(ATP8B1):c.*1940A>G rs117693241 0.00436
NM_001374385.1(ATP8B1):c.-51C>T rs150844949 0.00431
NM_003742.4(ABCB11):c.2134T>C (p.Leu712=) rs191649793 0.00401
NM_000443.4(ABCB4):c.2800G>A (p.Ala934Thr) rs61730509 0.00389
NM_001374385.1(ATP8B1):c.1177A>G (p.Ile393Val) rs34315917 0.00388
NM_032830.3(UTP4):c.615C>T (p.Ser205=) rs144266389 0.00376
NM_001374385.1(ATP8B1):c.*827T>A rs182819607 0.00356
NM_001374385.1(ATP8B1):c.246A>G (p.Thr82=) rs34623939 0.00337
NM_032830.3(UTP4):c.1164+8A>G rs112053857 0.00330
NM_001374385.1(ATP8B1):c.2442G>T (p.Lys814Asn) rs34018300 0.00328
NM_000443.4(ABCB4):c.2952A>G (p.Ala984=) rs45574932 0.00325
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_032830.3(UTP4):c.302G>T (p.Gly101Val) rs144369314 0.00227
NM_003742.4(ABCB11):c.*237T>C rs548624200 0.00214
NM_001374385.1(ATP8B1):c.*734A>T rs528645513 0.00206
NM_001374385.1(ATP8B1):c.1286A>C (p.Glu429Ala) rs34018205 0.00201
NM_003742.4(ABCB11):c.127G>A (p.Val43Ile) rs183406496 0.00197
NM_000443.4(ABCB4):c.-1G>A rs45449704 0.00181
NM_000443.4(ABCB4):c.1893+6T>C rs8187798 0.00175
NM_001374385.1(ATP8B1):c.150A>G (p.Glu50=) rs137973298 0.00146
NM_003742.4(ABCB11):c.1791G>T (p.Val597=) rs11568371 0.00145
NM_000443.4(ABCB4):c.3037A>C (p.Arg1013=) rs2230029 0.00143
NM_001374385.1(ATP8B1):c.3477C>T (p.Pro1159=) rs117182648 0.00137
NM_001374385.1(ATP8B1):c.3744C>A (p.Thr1248=) rs2271771 0.00137
NM_001374385.1(ATP8B1):c.1729A>G (p.Ile577Val) rs3745078 0.00135
NM_001374385.1(ATP8B1):c.234C>G (p.His78Gln) rs3745079 0.00124
NM_001374385.1(ATP8B1):c.2021T>C (p.Met674Thr) rs35470719 0.00121
NM_001374385.1(ATP8B1):c.913T>A (p.Phe305Ile) rs150860808 0.00120
NM_003742.4(ABCB11):c.*440G>A rs79130028 0.00112
NM_001374385.1(ATP8B1):c.1014C>T (p.Asn338=) rs145750280 0.00111
NM_003742.4(ABCB11):c.1636C>A (p.Gln546Lys) rs111482608 0.00107
NM_032830.3(UTP4):c.1183T>C (p.Cys395Arg) rs138998503 0.00106
NM_001374385.1(ATP8B1):c.2931+14G>A rs34451179 0.00101
NM_003742.4(ABCB11):c.2811A>T (p.Gly937=) rs192375476 0.00101
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_001374385.1(ATP8B1):c.1711G>A (p.Ala571Thr) rs35140429 0.00090
NM_032830.3(UTP4):c.1083A>G (p.Gly361=) rs34747774 0.00084
NM_001374385.1(ATP8B1):c.*503G>T rs187993447 0.00079
NM_003742.4(ABCB11):c.2101T>C (p.Ser701Pro) rs150572999 0.00079
NM_001374385.1(ATP8B1):c.1072G>A (p.Gly358Ser) rs193204986 0.00077
NM_000443.4(ABCB4):c.217C>G (p.Leu73Val) rs8187788 0.00074
NM_000443.4(ABCB4):c.2144C>T (p.Thr715Ile) rs138773456 0.00073
NM_003742.4(ABCB11):c.3512T>C (p.Met1171Thr) rs183621659 0.00071
NM_000443.4(ABCB4):c.696C>T (p.Ala232=) rs8187791 0.00068
NM_001374385.1(ATP8B1):c.1498T>C (p.Tyr500His) rs147642236 0.00063
NM_032830.3(UTP4):c.1376G>A (p.Gly459Glu) rs141398922 0.00056
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_032830.3(UTP4):c.1788C>T (p.Ile596=) rs75998507 0.00051
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_000443.4(ABCB4):c.3296A>G (p.Glu1099Gly) rs139042803 0.00044
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_000443.4(ABCB4):c.2324C>T (p.Thr775Met) rs148052192 0.00039
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_000443.4(ABCB4):c.1952C>A (p.Thr651Asn) rs45476795 0.00032
NM_001374385.1(ATP8B1):c.*735T>A rs561633356 0.00032
NM_001374385.1(ATP8B1):c.1438C>T (p.Arg480Trp) rs142231389 0.00032
NM_001374385.1(ATP8B1):c.555-3T>C rs367948617 0.00032
NM_003742.4(ABCB11):c.1254T>C (p.Gly418=) rs140138979 0.00032
NM_001374385.1(ATP8B1):c.*968T>A rs886054002 0.00029
NM_003742.4(ABCB11):c.2594C>T (p.Ala865Val) rs118109635 0.00029
NM_003742.4(ABCB11):c.1434+14A>G rs201816834 0.00028
NM_000443.4(ABCB4):c.3402C>T (p.Asp1134=) rs371394487 0.00027
NM_000443.4(ABCB4):c.3543G>A (p.Gln1181=) rs140592811 0.00025
NM_001374385.1(ATP8B1):c.*1945C>T rs779489096 0.00025
NM_003742.4(ABCB11):c.851T>C (p.Val284Ala) rs200739891 0.00025
NM_032830.3(UTP4):c.1287+6T>C rs201299923 0.00025
NM_001374385.1(ATP8B1):c.*296C>T rs553050447 0.00024
NM_032830.3(UTP4):c.1287+4A>G rs201384904 0.00024
NM_032830.3(UTP4):c.846G>A (p.Pro282=) rs150182351 0.00024
NM_000443.4(ABCB4):c.2137G>A (p.Val713Met) rs373122168 0.00019
NM_000443.4(ABCB4):c.1055C>T (p.Pro352Leu) rs199662246 0.00018
NM_000443.4(ABCB4):c.1784G>A (p.Arg595Gln) rs144398632 0.00018
NM_003742.4(ABCB11):c.2768C>T (p.Thr923Ile) rs199514789 0.00017
NM_000443.4(ABCB4):c.927T>C (p.Tyr309=) rs199504845 0.00016
NM_001374385.1(ATP8B1):c.*242T>C rs757204179 0.00016
NM_001374385.1(ATP8B1):c.1888C>T (p.His630Tyr) rs202100663 0.00016
NM_000443.4(ABCB4):c.3553A>G (p.Ile1185Val) rs8187811 0.00014
NM_001374385.1(ATP8B1):c.*1083T>C rs138676107 0.00014
NM_001374385.1(ATP8B1):c.*340C>T rs533724646 0.00014
NM_003742.4(ABCB11):c.1062T>C (p.Tyr354=) rs376258647 0.00014
NM_001374385.1(ATP8B1):c.3059T>C (p.Ile1020Thr) rs199514707 0.00013
NM_003742.4(ABCB11):c.1460G>A (p.Arg487His) rs188824058 0.00013
NM_003742.4(ABCB11):c.2834G>A (p.Ser945Asn) rs200857579 0.00013
NM_001374385.1(ATP8B1):c.*1676G>A rs932274962 0.00012
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_000443.4(ABCB4):c.2047G>A (p.Val683Met) rs776616540 0.00011
NM_001374385.1(ATP8B1):c.*426G>A rs192231911 0.00011
NM_003742.4(ABCB11):c.1638+6C>G rs886055067 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_001374385.1(ATP8B1):c.2261C>T (p.Thr754Ile) rs201392345 0.00010
NM_001374385.1(ATP8B1):c.2498G>A (p.Arg833Gln) rs568134011 0.00010
NM_003742.4(ABCB11):c.1530C>A (p.Thr510=) rs374701109 0.00010
NM_032830.3(UTP4):c.1165-7T>C rs200957784 0.00010
NM_032830.3(UTP4):c.1444+6A>C rs201088638 0.00010
NM_000443.4(ABCB4):c.1982G>A (p.Arg661His) rs532332220 0.00009
NM_001374385.1(ATP8B1):c.*1133A>G rs997437548 0.00009
NM_001374385.1(ATP8B1):c.*676G>A rs959189849 0.00009
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.2515A>G (p.Met839Val) rs372757355 0.00009
NM_032830.3(UTP4):c.1451T>G (p.Val484Gly) rs199824083 0.00009
NM_032830.3(UTP4):c.1536C>T (p.Asn512=) rs144493973 0.00009
NM_032830.3(UTP4):c.1904G>A (p.Arg635Lys) rs761295812 0.00009
NM_003742.4(ABCB11):c.2565A>G (p.Gly855=) rs1014304470 0.00008
NM_001374385.1(ATP8B1):c.1813A>G (p.Ile605Val) rs369553314 0.00007
NM_000443.4(ABCB4):c.2535T>C (p.Gly845=) rs545534537 0.00006
NM_000443.4(ABCB4):c.3231G>A (p.Thr1077=) rs376825608 0.00006
NM_000443.4(ABCB4):c.3285C>T (p.Leu1095=) rs561612231 0.00006
NM_001374385.1(ATP8B1):c.2988C>T (p.Pro996=) rs776385207 0.00006
NM_001374385.1(ATP8B1):c.310G>A (p.Ala104Thr) rs756439394 0.00006
NM_003742.4(ABCB11):c.2012-8T>G rs769910565 0.00006
NM_000443.4(ABCB4):c.3476C>T (p.Thr1159Met) rs145056464 0.00005
NM_001374385.1(ATP8B1):c.*1524T>C rs886054000 0.00005
NM_001374385.1(ATP8B1):c.1681G>A (p.Ala561Thr) rs372806297 0.00005
NM_001374385.1(ATP8B1):c.3727G>A (p.Ala1243Thr) rs146405857 0.00005
NM_001374385.1(ATP8B1):c.*1553T>G rs559805305 0.00004
NM_001374385.1(ATP8B1):c.*776G>A rs886054003 0.00004
NM_001374385.1(ATP8B1):c.*799G>A rs376678355 0.00004
NM_001374385.1(ATP8B1):c.1101C>A (p.Gly367=) rs35969033 0.00004
NM_001374385.1(ATP8B1):c.14G>A (p.Arg5Lys) rs960179853 0.00004
NM_001374385.1(ATP8B1):c.164G>A (p.Arg55Gln) rs768114205 0.00004
NM_001374385.1(ATP8B1):c.1754A>G (p.Glu585Gly) rs35238397 0.00004
NM_001374385.1(ATP8B1):c.207C>T (p.Asn69=) rs201150730 0.00004
NM_001374385.1(ATP8B1):c.212G>A (p.Arg71His) rs148715351 0.00004
NM_001374385.1(ATP8B1):c.3401-13A>G rs747437391 0.00004
NM_001374385.1(ATP8B1):c.530C>T (p.Thr177Met) rs369011228 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.810G>A (p.Glu270=) rs369671177 0.00004
NM_032830.3(UTP4):c.*67A>C rs1015958388 0.00004
NM_001374385.1(ATP8B1):c.*1095A>T rs886054001 0.00003
NM_001374385.1(ATP8B1):c.*132C>G rs745786597 0.00003
NM_001374385.1(ATP8B1):c.*531C>T rs758654293 0.00003
NM_001374385.1(ATP8B1):c.-65C>T rs886054016 0.00003
NM_001374385.1(ATP8B1):c.1156T>G (p.Phe386Val) rs767126171 0.00003
NM_001374385.1(ATP8B1):c.2052C>T (p.Asp684=) rs370484798 0.00003
NM_001374385.1(ATP8B1):c.2722G>A (p.Val908Ile) rs200648620 0.00003
NM_001374385.1(ATP8B1):c.2939A>G (p.Tyr980Cys) rs886054010 0.00003
NM_001374385.1(ATP8B1):c.3481G>A (p.Val1161Ile) rs771155047 0.00003
NM_001374385.1(ATP8B1):c.3696G>A (p.Ser1232=) rs754912569 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.1244G>A (p.Arg415Gln) rs371656014 0.00003
NM_003742.4(ABCB11):c.3411+10G>A rs188996270 0.00003
NM_000443.4(ABCB4):c.3372C>T (p.Cys1124=) rs886062459 0.00002
NM_000443.4(ABCB4):c.697G>A (p.Val233Ile) rs774347020 0.00002
NM_001374385.1(ATP8B1):c.*1403G>A rs1277260486 0.00002
NM_001374385.1(ATP8B1):c.*1629T>C rs367994135 0.00002
NM_001374385.1(ATP8B1):c.*1851G>C rs1425339940 0.00002
NM_001374385.1(ATP8B1):c.1029+5T>C rs200663890 0.00002
NM_001374385.1(ATP8B1):c.2546G>A (p.Arg849Gln) rs144656719 0.00002
NM_001374385.1(ATP8B1):c.3669C>T (p.Ser1223=) rs375842507 0.00002
NM_001374385.1(ATP8B1):c.854G>T (p.Ser285Ile) rs754073606 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.1699G>A (p.Val567Ile) rs886055066 0.00002
NM_032830.3(UTP4):c.1610A>G (p.Asn537Ser) rs138922775 0.00002
NM_032830.3(UTP4):c.531C>T (p.Ser177=) rs370682701 0.00002
NM_032830.3(UTP4):c.57C>A (p.Ile19=) rs141243868 0.00002
NM_032830.3(UTP4):c.635T>C (p.Val212Ala) rs538321215 0.00002
NM_032830.3(UTP4):c.871C>T (p.Arg291Cys) rs773025409 0.00002
NM_000443.4(ABCB4):c.1281G>C (p.Leu427=) rs761918535 0.00001
NM_000443.4(ABCB4):c.1938T>C (p.Asp646=) rs553616378 0.00001
NM_000443.4(ABCB4):c.1970G>T (p.Gly657Val) rs367709575 0.00001
NM_000443.4(ABCB4):c.2055C>T (p.Thr685=) rs747255117 0.00001
NM_000443.4(ABCB4):c.3144C>T (p.Asn1048=) rs8187807 0.00001
NM_000443.4(ABCB4):c.3409C>T (p.Arg1137Trp) rs747453583 0.00001
NM_000443.4(ABCB4):c.3588C>T (p.Leu1196=) rs370310867 0.00001
NM_000443.4(ABCB4):c.805T>C (p.Phe269Leu) rs756070393 0.00001
NM_001374385.1(ATP8B1):c.*1546A>C rs1383423114 0.00001
NM_001374385.1(ATP8B1):c.*506G>A rs1054288138 0.00001
NM_001374385.1(ATP8B1):c.*899C>T rs887562438 0.00001
NM_001374385.1(ATP8B1):c.-35C>A rs886054015 0.00001
NM_001374385.1(ATP8B1):c.1206C>T (p.Ile402=) rs1179570288 0.00001
NM_001374385.1(ATP8B1):c.1278C>T (p.Tyr426=) rs780518569 0.00001
NM_001374385.1(ATP8B1):c.1429+14G>A rs886054012 0.00001
NM_001374385.1(ATP8B1):c.1819+10C>T rs767885426 0.00001
NM_001374385.1(ATP8B1):c.1933-12T>A rs758782679 0.00001
NM_001374385.1(ATP8B1):c.2322T>A (p.Asn774Lys) rs757090822 0.00001
NM_001374385.1(ATP8B1):c.2637G>A (p.Leu879=) rs199716374 0.00001
NM_001374385.1(ATP8B1):c.2763G>A (p.Ser921=) rs758180192 0.00001
NM_001374385.1(ATP8B1):c.2844del (p.Met947_Cys948insTer) rs752757689 0.00001
NM_001374385.1(ATP8B1):c.2968G>A (p.Val990Met) rs747325752 0.00001
NM_001374385.1(ATP8B1):c.3318C>T (p.Ser1106=) rs140005450 0.00001
NM_001374385.1(ATP8B1):c.340G>C (p.Glu114Gln) rs753142591 0.00001
NM_001374385.1(ATP8B1):c.3654G>A (p.Ala1218=) rs778786114 0.00001
NM_001374385.1(ATP8B1):c.3673C>A (p.Arg1225Ser) rs774849132 0.00001
NM_001374385.1(ATP8B1):c.394-7C>T rs370252509 0.00001
NM_001374385.1(ATP8B1):c.910G>A (p.Asp304Asn) rs372749108 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.1445A>G (p.Asp482Gly) rs72549402 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.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.2202A>C (p.Glu734Asp) rs369865521 0.00001
NM_003742.4(ABCB11):c.2228G>C (p.Arg743Thr) rs372228971 0.00001
NM_003742.4(ABCB11):c.3057-12G>A rs748204442 0.00001
NM_003742.4(ABCB11):c.3454C>T (p.Leu1152Phe) rs773929580 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.681C>A (p.Thr227=) rs1401834885 0.00001
NM_003742.4(ABCB11):c.800C>T (p.Thr267Met) rs886055069 0.00001
NM_032830.3(UTP4):c.1002+15C>T rs370811526 0.00001
NM_032830.3(UTP4):c.1249C>T (p.Arg417Trp) rs772154514 0.00001
NM_032830.3(UTP4):c.1621C>T (p.Leu541Phe) rs1031659078 0.00001
NM_032830.3(UTP4):c.1677G>T (p.Gln559His) rs1963675848 0.00001
NM_032830.3(UTP4):c.739-6C>G rs373200948 0.00001
NM_000443.4(ABCB4):c.-18G>T rs886062461
NM_000443.4(ABCB4):c.1005+3A>G rs1811389784
NM_000443.4(ABCB4):c.109G>T (p.Val37Leu) rs1813502867
NM_000443.4(ABCB4):c.1277C>T (p.Ala426Val) rs1811115234
NM_000443.4(ABCB4):c.1469T>C (p.Ile490Thr) rs1562976223
NM_000443.4(ABCB4):c.147C>A (p.Ser49=) rs8187789
NM_000443.4(ABCB4):c.1858A>G (p.Lys620Glu) rs886062460
NM_000443.4(ABCB4):c.2212A>C (p.Ile738Leu) rs1265968550
NM_000443.4(ABCB4):c.2242C>G (p.Gln748Glu) rs1809490932
NM_000443.4(ABCB4):c.2340C>A (p.Gly780=) rs148865252
NM_000443.4(ABCB4):c.2478+7A>T rs778002144
NM_000443.4(ABCB4):c.2590G>T (p.Val864Phe) rs764913373
NM_000443.4(ABCB4):c.2591T>C (p.Val864Ala) rs1809055658
NM_000443.4(ABCB4):c.3308T>G (p.Leu1103Arg) rs1808202820
NM_000443.4(ABCB4):c.3504G>A (p.Val1168=) rs1807938184
NM_000443.4(ABCB4):c.3695G>A (p.Arg1232His) rs1160711086
NM_000443.4(ABCB4):c.511A>G (p.Thr171Ala) rs542995265
NM_001374385.1(ATP8B1):c.*102G>T rs886054008
NM_001374385.1(ATP8B1):c.*1243T>C rs571338678
NM_001374385.1(ATP8B1):c.*1333T>G rs1909226700
NM_001374385.1(ATP8B1):c.*1796G>A rs747148347
NM_001374385.1(ATP8B1):c.*1833G>A rs574070627
NM_001374385.1(ATP8B1):c.*2015del rs35833803
NM_001374385.1(ATP8B1):c.*212T>C rs886054007
NM_001374385.1(ATP8B1):c.*261G>C rs1909307752
NM_001374385.1(ATP8B1):c.*292C>A rs1599059993
NM_001374385.1(ATP8B1):c.*440C>T rs867751351
NM_001374385.1(ATP8B1):c.*467G>A rs1909290314
NM_001374385.1(ATP8B1):c.*587G>A rs317822
NM_001374385.1(ATP8B1):c.*646G>C rs886054006
NM_001374385.1(ATP8B1):c.*649C>A rs1288737685
NM_001374385.1(ATP8B1):c.*651T>C rs886054005
NM_001374385.1(ATP8B1):c.*694T>C rs886054004
NM_001374385.1(ATP8B1):c.*727A>C rs776278990
NM_001374385.1(ATP8B1):c.*735T>G rs561633356
NM_001374385.1(ATP8B1):c.*741A>G rs970265600
NM_001374385.1(ATP8B1):c.*900G>A rs4940950
NM_001374385.1(ATP8B1):c.*900G>T rs4940950
NM_001374385.1(ATP8B1):c.1193C>T (p.Thr398Ile) rs1484507624
NM_001374385.1(ATP8B1):c.1473+2T>C rs1568195257
NM_001374385.1(ATP8B1):c.1556G>A (p.Gly519Glu) rs886054011
NM_001374385.1(ATP8B1):c.2098-17_2098-15dup rs34422185
NM_001374385.1(ATP8B1):c.2098-18_2098-15dup rs34422185
NM_001374385.1(ATP8B1):c.2098-19_2098-15dup rs34422185
NM_001374385.1(ATP8B1):c.2098-20_2098-15dup rs34422185
NM_001374385.1(ATP8B1):c.2098-21_2098-15dup rs34422185
NM_001374385.1(ATP8B1):c.2098-7_2098delinsTTTTTAGT rs1568187066
NM_001374385.1(ATP8B1):c.2208G>A (p.Lys736=) rs764984556
NM_001374385.1(ATP8B1):c.222C>A (p.His74Gln) rs145214384
NM_001374385.1(ATP8B1):c.3450C>T (p.Ile1150=) rs886054009
NM_001374385.1(ATP8B1):c.3699G>A (p.Pro1233=) rs35953143
NM_001374385.1(ATP8B1):c.494C>G (p.Ala165Gly) rs886054014
NM_001374385.1(ATP8B1):c.501T>A (p.His167Gln) rs780703474
NM_001374385.1(ATP8B1):c.676G>A (p.Val226Met) rs1449849281
NM_001374385.1(ATP8B1):c.782-5A>T rs886054013
NM_003742.4(ABCB11):c.*193G>C rs886055061
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.1124A>G (p.Asn375Ser) rs572222881
NM_003742.4(ABCB11):c.1197+13C>T rs781492309
NM_003742.4(ABCB11):c.1197+2T>C rs886055068
NM_003742.4(ABCB11):c.1484G>T (p.Arg495Ile)
NM_003742.4(ABCB11):c.1927T>C (p.Leu643=) rs1693471170
NM_003742.4(ABCB11):c.208T>C (p.Phe70Leu) rs1695254190
NM_003742.4(ABCB11):c.2298G>A (p.Gly766=) rs200087122
NM_003742.4(ABCB11):c.2413A>G (p.Met805Val) rs1692231118
NM_003742.4(ABCB11):c.2593G>A (p.Ala865Thr) rs886055064
NM_003742.4(ABCB11):c.2800G>A (p.Glu934Lys) rs755362375
NM_003742.4(ABCB11):c.2905A>G (p.Lys969Glu) rs886055063
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.3499G>T (p.Ala1167Ser) rs1691360150
NM_003742.4(ABCB11):c.3500C>T (p.Ala1167Val) rs1163343377
NM_003742.4(ABCB11):c.3546A>C (p.Glu1182Asp) rs887349193
NM_003742.4(ABCB11):c.477+8G>T rs745477056
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.896G>A (p.Arg299Lys) rs2287617
NM_003742.4(ABCB11):c.957A>G (p.Gly319=) rs7563233
NM_032830.3(UTP4):c.-2-3T>C rs1962709947
NM_032830.3(UTP4):c.1308C>T (p.Phe436=) rs140221825
NM_032830.3(UTP4):c.418A>G (p.Asn140Asp) rs1962851495
NM_032830.3(UTP4):c.632G>A (p.Ser211Asn) rs1963017242
NM_032830.3(UTP4):c.754G>T (p.Val252Leu) rs375128162
NM_032830.3(UTP4):c.872G>A (p.Arg291His) rs760350216

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