ClinVar Miner

List of variants in gene ABCB11 reported as uncertain significance by Eurofins NTD LLC (GA)

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Gene type:
ClinVar version:
Total variants: 182
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HGVS dbSNP gnomAD frequency
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.3548T>C (p.Ile1183Thr) rs143484849 0.00116
NM_003742.4(ABCB11):c.1281C>T (p.Phe427=) rs11568360 0.00098
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.3512T>C (p.Met1171Thr) rs183621659 0.00071
NM_003742.4(ABCB11):c.383G>A (p.Arg128His) rs181533618 0.00066
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.2087G>A (p.Arg696Gln) rs141862495 0.00040
NM_003742.4(ABCB11):c.2886A>G (p.Ala962=) rs201087979 0.00040
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.1248C>A (p.Ile416=) rs183390670 0.00032
NM_003742.4(ABCB11):c.1254T>C (p.Gly418=) rs140138979 0.00032
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.477A>G (p.Gln159=) rs191042013 0.00024
NM_003742.4(ABCB11):c.23G>A (p.Arg8Gln) rs368985605 0.00023
NM_003742.4(ABCB11):c.506G>A (p.Arg169His) rs200870815 0.00023
NM_003742.4(ABCB11):c.2191C>T (p.Pro731Ser) rs201240844 0.00021
NM_003742.4(ABCB11):c.2036C>T (p.Ala679Val) rs200912109 0.00012
NM_003742.4(ABCB11):c.48G>A (p.Glu16=) rs768192083 0.00012
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.1724G>A (p.Arg575Gln) rs200667815 0.00010
NM_003742.4(ABCB11):c.1055G>A (p.Gly352Glu) rs201351924 0.00009
NM_003742.4(ABCB11):c.1774G>C (p.Glu592Gln) rs11568370 0.00009
NM_003742.4(ABCB11):c.2565A>G (p.Gly855=) rs1014304470 0.00008
NM_003742.4(ABCB11):c.279C>T (p.Tyr93=) rs375137002 0.00008
NM_003742.4(ABCB11):c.3848C>T (p.Ala1283Val) rs372886308 0.00007
NM_003742.4(ABCB11):c.1465C>G (p.Leu489Val) rs944713270 0.00006
NM_003742.4(ABCB11):c.2125G>A (p.Glu709Lys) rs201800225 0.00006
NM_003742.4(ABCB11):c.3214-7T>A rs377593604 0.00006
NM_003742.4(ABCB11):c.3412-7T>C rs757040670 0.00006
NM_003742.4(ABCB11):c.667C>T (p.Arg223Cys) rs199841445 0.00006
NM_003742.4(ABCB11):c.1664G>C (p.Gly555Ala) rs370566153 0.00005
NM_003742.4(ABCB11):c.1741C>G (p.Leu581Val) rs758569602 0.00005
NM_003742.4(ABCB11):c.3214-6C>G rs750991541 0.00005
NM_003742.4(ABCB11):c.155G>A (p.Arg52Gln) rs773884264 0.00004
NM_003742.4(ABCB11):c.2908C>T (p.Pro970Ser) rs779096015 0.00004
NM_003742.4(ABCB11):c.3706G>T (p.Asp1236Tyr) rs377426819 0.00004
NM_003742.4(ABCB11):c.668G>A (p.Arg223His) rs773088249 0.00004
NM_003742.4(ABCB11):c.711G>A (p.Arg237=) rs765070028 0.00004
NM_003742.4(ABCB11):c.76T>A (p.Tyr26Asn) rs372790699 0.00004
NM_003742.4(ABCB11):c.1244G>A (p.Arg415Gln) rs371656014 0.00003
NM_003742.4(ABCB11):c.126C>T (p.Gly42=) rs138800291 0.00003
NM_003742.4(ABCB11):c.1846C>T (p.Arg616Cys) rs369187042 0.00003
NM_003742.4(ABCB11):c.2037G>A (p.Ala679=) rs776223452 0.00003
NM_003742.4(ABCB11):c.2194G>C (p.Val732Leu) rs746408716 0.00003
NM_003742.4(ABCB11):c.2523G>A (p.Gly841=) rs367874361 0.00003
NM_003742.4(ABCB11):c.3060G>A (p.Val1020=) rs368622067 0.00003
NM_003742.4(ABCB11):c.3246T>C (p.Asp1082=) rs750944055 0.00003
NM_003742.4(ABCB11):c.3411+10G>A rs188996270 0.00003
NM_003742.4(ABCB11):c.3629C>G (p.Thr1210Ser) rs1033490064 0.00003
NM_003742.4(ABCB11):c.3634G>A (p.Val1212Ile) rs546906441 0.00003
NM_003742.4(ABCB11):c.698T>C (p.Leu233Ser) rs758339239 0.00003
NM_003742.4(ABCB11):c.154C>T (p.Arg52Trp) rs763526610 0.00002
NM_003742.4(ABCB11):c.1583T>C (p.Ile528Thr) rs886044201 0.00002
NM_003742.4(ABCB11):c.2135T>C (p.Leu712Ser) rs372939910 0.00002
NM_003742.4(ABCB11):c.3676C>T (p.Arg1226Cys) rs772241929 0.00002
NM_003742.4(ABCB11):c.854T>C (p.Ile285Thr) rs763412030 0.00002
NM_003742.4(ABCB11):c.869C>G (p.Thr290Arg) rs886043363 0.00002
NM_003742.4(ABCB11):c.1360G>T (p.Val454Leu) rs758400152 0.00001
NM_003742.4(ABCB11):c.1573A>G (p.Met525Val) rs886043874 0.00001
NM_003742.4(ABCB11):c.1628A>G (p.Asp543Gly) rs200687717 0.00001
NM_003742.4(ABCB11):c.1769A>G (p.Asp590Gly) rs886044710 0.00001
NM_003742.4(ABCB11):c.1832T>C (p.Ile611Thr) rs1469344983 0.00001
NM_003742.4(ABCB11):c.1837G>A (p.Val613Ile) rs1243148431 0.00001
NM_003742.4(ABCB11):c.1847G>A (p.Arg616His) rs777021400 0.00001
NM_003742.4(ABCB11):c.1964C>T (p.Thr655Ile) rs775969731 0.00001
NM_003742.4(ABCB11):c.216T>C (p.His72=) rs1174260635 0.00001
NM_003742.4(ABCB11):c.2221G>A (p.Val741Ile) rs756337359 0.00001
NM_003742.4(ABCB11):c.2439A>G (p.Gln813=) rs776712250 0.00001
NM_003742.4(ABCB11):c.2457C>A (p.Ala819=) rs1398103963 0.00001
NM_003742.4(ABCB11):c.2490G>A (p.Arg830=) rs775663263 0.00001
NM_003742.4(ABCB11):c.251G>A (p.Gly84Asp) rs762571776 0.00001
NM_003742.4(ABCB11):c.2535C>T (p.Ala845=) rs1347731818 0.00001
NM_003742.4(ABCB11):c.280G>A (p.Asp94Asn) rs760920706 0.00001
NM_003742.4(ABCB11):c.2988T>C (p.Asn996=) rs762824612 0.00001
NM_003742.4(ABCB11):c.3005A>G (p.Tyr1002Cys) rs1235000659 0.00001
NM_003742.4(ABCB11):c.3229A>G (p.Lys1077Glu) rs1339313529 0.00001
NM_003742.4(ABCB11):c.3308T>C (p.Ile1103Thr) rs1480979213 0.00001
NM_003742.4(ABCB11):c.3383G>A (p.Arg1128His) rs756220860 0.00001
NM_003742.4(ABCB11):c.3426T>G (p.His1142Gln) rs200735761 0.00001
NM_003742.4(ABCB11):c.3766-10C>T rs369104228 0.00001
NM_003742.4(ABCB11):c.3768G>A (p.Thr1256=) rs773371540 0.00001
NM_003742.4(ABCB11):c.3854T>A (p.Ile1285Asn) rs773567525 0.00001
NM_003742.4(ABCB11):c.404A>C (p.Glu135Ala) rs1288517834 0.00001
NM_003742.4(ABCB11):c.434A>G (p.Tyr145Cys) rs1334068953 0.00001
NM_003742.4(ABCB11):c.478A>G (p.Ile160Val) rs774354809 0.00001
NM_003742.4(ABCB11):c.692T>C (p.Phe231Ser) rs756287199 0.00001
NM_003742.4(ABCB11):c.884G>A (p.Gly295Asp) rs781303951 0.00001
NM_003742.4(ABCB11):c.952A>G (p.Lys318Glu) rs374262721 0.00001
NM_003742.4(ABCB11):c.1064C>T (p.Thr355Ile) rs767525336
NM_003742.4(ABCB11):c.1146_1166del (p.Phe383_Ala389del) rs1553468235
NM_003742.4(ABCB11):c.1192G>A (p.Asp398Asn) rs1558905159
NM_003742.4(ABCB11):c.1244G>C (p.Arg415Pro) rs371656014
NM_003742.4(ABCB11):c.127G>T (p.Val43Phe) rs183406496
NM_003742.4(ABCB11):c.1297C>G (p.Pro433Ala) rs886044714
NM_003742.4(ABCB11):c.1404T>A (p.Ile468=) rs34200464
NM_003742.4(ABCB11):c.1421C>G (p.Pro474Arg) rs1431047015
NM_003742.4(ABCB11):c.1435-13_1435-8del rs748716950
NM_003742.4(ABCB11):c.1444G>A (p.Asp482Asn) rs1558897179
NM_003742.4(ABCB11):c.1472T>G (p.Ile491Ser) rs1558897117
NM_003742.4(ABCB11):c.147A>T (p.Gln49His) rs759100946
NM_003742.4(ABCB11):c.150+4A>C rs1558927997
NM_003742.4(ABCB11):c.1535T>C (p.Ile512Thr) rs886044202
NM_003742.4(ABCB11):c.1600G>A (p.Glu534Lys) rs746501606
NM_003742.4(ABCB11):c.1608T>C (p.Asn536=) rs1227759001
NM_003742.4(ABCB11):c.1622T>C (p.Ile541Thr) rs753994013
NM_003742.4(ABCB11):c.1638G>A (p.Gln546=) rs1558896713
NM_003742.4(ABCB11):c.1649C>A (p.Thr550Asn) rs757224691
NM_003742.4(ABCB11):c.1670G>A (p.Gly557Asp) rs886043762
NM_003742.4(ABCB11):c.1682G>A (p.Gly561Asp) rs1558895094
NM_003742.4(ABCB11):c.173A>C (p.Asp58Ala) rs1553472841
NM_003742.4(ABCB11):c.1752G>A (p.Met584Ile) rs886044053
NM_003742.4(ABCB11):c.1752G>T (p.Met584Ile) rs886044053
NM_003742.4(ABCB11):c.1802T>C (p.Leu601Pro) rs886044602
NM_003742.4(ABCB11):c.1857G>T (p.Thr619=) rs760948323
NM_003742.4(ABCB11):c.1871A>T (p.Asp624Val) rs776055806
NM_003742.4(ABCB11):c.1880T>C (p.Ile627Thr) rs1558894309
NM_003742.4(ABCB11):c.1900G>A (p.Ala634Thr) rs794727169
NM_003742.4(ABCB11):c.2010G>C (p.Lys670Asn) rs1553466025
NM_003742.4(ABCB11):c.2011+3A>C rs1553466024
NM_003742.4(ABCB11):c.2075+5G>A rs1553465880
NM_003742.4(ABCB11):c.2077G>A (p.Ala693Thr) rs748837264
NM_003742.4(ABCB11):c.2086C>A (p.Arg696=) rs376216286
NM_003742.4(ABCB11):c.2095T>C (p.Ser699Pro) rs867525294
NM_003742.4(ABCB11):c.2106G>A (p.Gln702=) rs1559207106
NM_003742.4(ABCB11):c.2110T>C (p.Ser704Pro) rs886043478
NM_003742.4(ABCB11):c.2298G>A (p.Gly766=) rs200087122
NM_003742.4(ABCB11):c.236T>A (p.Val79Glu) rs886044603
NM_003742.4(ABCB11):c.239T>C (p.Leu80Pro) rs886042487
NM_003742.4(ABCB11):c.2471G>A (p.Gly824Glu) rs1559191495
NM_003742.4(ABCB11):c.2495G>A (p.Arg832His) rs376255350
NM_003742.4(ABCB11):c.2495G>T (p.Arg832Leu) rs376255350
NM_003742.4(ABCB11):c.2538G>T (p.Trp846Cys) rs1208988638
NM_003742.4(ABCB11):c.2907G>C (p.Lys969Asn) rs201881755
NM_003742.4(ABCB11):c.3010G>C (p.Gly1004Arg) rs761177506
NM_003742.4(ABCB11):c.3077T>G (p.Leu1026Arg) rs1559180842
NM_003742.4(ABCB11):c.3130G>C (p.Ala1044Pro) rs926040478
NM_003742.4(ABCB11):c.3145G>A (p.Ala1049Thr) rs1559180694
NM_003742.4(ABCB11):c.3215_3219delinsGA (p.Asp1072_Asn1073delinsGly) rs1559179410
NM_003742.4(ABCB11):c.3248G>A (p.Cys1083Tyr) rs1559179342
NM_003742.4(ABCB11):c.3305C>G (p.Ser1102Trp) rs762737233
NM_003742.4(ABCB11):c.3350G>A (p.Cys1117Tyr) rs754048936
NM_003742.4(ABCB11):c.3404G>A (p.Gly1135Glu) rs1559179021
NM_003742.4(ABCB11):c.3457C>G (p.Arg1153Gly) rs72549395
NM_003742.4(ABCB11):c.3476T>C (p.Val1159Ala) rs1559176523
NM_003742.4(ABCB11):c.3517A>G (p.Asn1173Asp) rs764069770
NM_003742.4(ABCB11):c.3572C>A (p.Ala1191Asp) rs1559176334
NM_003742.4(ABCB11):c.3767C>G (p.Thr1256Arg) rs763244136
NM_003742.4(ABCB11):c.3778G>C (p.Ala1260Pro) rs772097949
NM_003742.4(ABCB11):c.3782T>C (p.Leu1261Pro) rs1559173607
NM_003742.4(ABCB11):c.3817A>G (p.Ile1273Val) rs756792557
NM_003742.4(ABCB11):c.3875G>T (p.Gly1292Val) rs1553543921
NM_003742.4(ABCB11):c.389+5G>T rs1553472773
NM_003742.4(ABCB11):c.3923del (p.Gly1308fs) rs1269456376
NM_003742.4(ABCB11):c.3945del (p.Thr1316fs) rs886043366
NM_003742.4(ABCB11):c.451G>A (p.Ala151Thr) rs776561679
NM_003742.4(ABCB11):c.477+5G>C rs1558916883
NM_003742.4(ABCB11):c.477+8G>T rs745477056
NM_003742.4(ABCB11):c.500C>T (p.Ala167Val) rs1553470309
NM_003742.4(ABCB11):c.503C>A (p.Ala168Asp) rs886044198
NM_003742.4(ABCB11):c.555G>A (p.Met185Ile) rs367704601
NM_003742.4(ABCB11):c.585G>C (p.Val195=) rs11568365
NM_003742.4(ABCB11):c.595A>G (p.Asn199Asp) rs1411429927
NM_003742.4(ABCB11):c.635C>T (p.Ala212Val) rs1258787148
NM_003742.4(ABCB11):c.674C>A (p.Thr225Asn) rs1553470064
NM_003742.4(ABCB11):c.713G>C (p.Gly238Ala) rs72551306
NM_003742.4(ABCB11):c.757G>A (p.Gly253Arg) rs886044711
NM_003742.4(ABCB11):c.770C>T (p.Ala257Val) rs1553470037
NM_003742.4(ABCB11):c.783+5G>A rs1553470031
NM_003742.4(ABCB11):c.830C>A (p.Ala277Glu) rs1558912790
NM_003742.4(ABCB11):c.835G>A (p.Val279Met) rs1205653279
NM_003742.4(ABCB11):c.85_87del (p.Asp29del) rs748922246
NM_003742.4(ABCB11):c.874G>T (p.Ala292Ser) rs1558912727
NM_003742.4(ABCB11):c.896G>A (p.Arg299Lys) rs2287617
NM_003742.4(ABCB11):c.908+5G>A rs1558912626
NM_003742.4(ABCB11):c.937C>T (p.Arg313Cys) rs375087680

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