ClinVar Miner

List of variants in gene ABCB11 reported as likely pathogenic for digestive system disorder

Included ClinVar conditions (605):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 77
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HGVS dbSNP gnomAD frequency
NM_003742.4(ABCB11):c.2191C>T (p.Pro731Ser) rs201240844 0.00021
NM_003742.4(ABCB11):c.1460G>A (p.Arg487His) rs188824058 0.00013
NM_003742.4(ABCB11):c.1774G>C (p.Glu592Gln) rs11568370 0.00009
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.2296G>A (p.Gly766Arg) rs763782349 0.00003
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.76+1G>A rs1413569310 0.00002
NM_003742.4(ABCB11):c.1415A>G (p.Tyr472Cys) rs369860506 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.1769A>G (p.Asp590Gly) rs886044710 0.00001
NM_003742.4(ABCB11):c.2494C>T (p.Arg832Cys) rs772294884 0.00001
NM_003742.4(ABCB11):c.3383G>A (p.Arg1128His) rs756220860 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.1029dup (p.Gly344fs)
NM_003742.4(ABCB11):c.1100_1101dup (p.Val368Ter) rs1574462504
NM_003742.4(ABCB11):c.1131_1132del (p.Pro378fs) rs2105984736
NM_003742.4(ABCB11):c.1160G>A (p.Arg387His)
NM_003742.4(ABCB11):c.1198-2A>C
NM_003742.4(ABCB11):c.1388C>T (p.Thr463Ile)
NM_003742.4(ABCB11):c.150+3A>C rs387906354
NM_003742.4(ABCB11):c.151-9T>G
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.1623C>G (p.Ile541Met) rs764296800
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.1975C>T (p.Gln659Ter)
NM_003742.4(ABCB11):c.2011+1G>T
NM_003742.4(ABCB11):c.2075+2T>C rs1574445178
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.2095T>C (p.Ser699Pro) rs867525294
NM_003742.4(ABCB11):c.2150_2156del (p.His717fs)
NM_003742.4(ABCB11):c.2179-1G>A rs2105935255
NM_003742.4(ABCB11):c.2281_2282del (p.Gly761fs)
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.2418C>T (p.Gly806=)
NM_003742.4(ABCB11):c.2432del (p.Phe811fs)
NM_003742.4(ABCB11):c.257T>A (p.Met86Lys) rs1258387740
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.3233T>A (p.Ile1078Asn)
NM_003742.4(ABCB11):c.3628A>C (p.Thr1210Pro) rs1691232631
NM_003742.4(ABCB11):c.3677G>T (p.Arg1226Leu) rs778992761
NM_003742.4(ABCB11):c.3803G>A (p.Arg1268Gln)
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.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.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>T (p.Gly238Val)
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.936G>T (p.Gln312His) rs770497192
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)

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