ClinVar Miner

List of variants in gene ABCB11 reported by Baylor Genetics

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 91
Download table as spreadsheet
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.667C>T (p.Arg223Cys) rs199841445 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.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.76+1G>A rs1413569310 0.00002
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.1763C>T (p.Ala588Val) rs917981474 0.00001
NM_003742.4(ABCB11):c.2178+1G>A rs1459273753 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.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)
NM_003742.4(ABCB11):c.1029dup (p.Gly344fs)
NM_003742.4(ABCB11):c.1081C>T (p.Gln361Ter)
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.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.1388C>T (p.Thr463Ile)
NM_003742.4(ABCB11):c.1409G>A (p.Arg470Gln) rs1463057954
NM_003742.4(ABCB11):c.1487A>T (p.Asp496Val)
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.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.180_181dup (p.Leu61fs)
NM_003742.4(ABCB11):c.1907A>G (p.Glu636Gly) rs199671371
NM_003742.4(ABCB11):c.1966_1967del (p.Leu656fs) rs1064797270
NM_003742.4(ABCB11):c.2011+1G>T
NM_003742.4(ABCB11):c.2077G>C (p.Ala693Pro)
NM_003742.4(ABCB11):c.2086C>T (p.Arg696Trp)
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.2281_2282del (p.Gly761fs)
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.2418C>T (p.Gly806=)
NM_003742.4(ABCB11):c.2432del (p.Phe811fs)
NM_003742.4(ABCB11):c.2488del (p.Arg830fs) rs756323541
NM_003742.4(ABCB11):c.2495G>A (p.Arg832His) rs376255350
NM_003742.4(ABCB11):c.2542del (p.Asp848fs)
NM_003742.4(ABCB11):c.2913del (p.Phe971fs)
NM_003742.4(ABCB11):c.3003A>G (p.Arg1001=)
NM_003742.4(ABCB11):c.3224del (p.Gln1075fs)
NM_003742.4(ABCB11):c.3382C>T (p.Arg1128Cys) rs764581483
NM_003742.4(ABCB11):c.3491del (p.Val1164fs) rs755647308
NM_003742.4(ABCB11):c.3628A>C (p.Thr1210Pro) rs1691232631
NM_003742.4(ABCB11):c.379del (p.Thr127fs) rs1558927163
NM_003742.4(ABCB11):c.3804del (p.Thr1269fs) rs1231877314
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.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.489G>A (p.Trp163Ter)
NM_003742.4(ABCB11):c.567G>A (p.Trp189Ter)
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>T (p.Gly238Val)
NM_003742.4(ABCB11):c.779G>A (p.Gly260Asp)
NM_003742.4(ABCB11):c.798del (p.Phe266fs)
NM_003742.4(ABCB11):c.884dup (p.Gly296fs)
NM_003742.4(ABCB11):c.959_960del (p.Ile320fs) rs1418620415
NM_003742.4(ABCB11):c.98+2T>C

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.