ClinVar Miner

List of variants in gene ABCB11 reported by Natera, Inc.

Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 74
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HGVS dbSNP gnomAD frequency
NM_003742.4(ABCB11):c.3084A>G (p.Ala1028=) rs497692 0.46166
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_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_003742.4(ABCB11):c.156G>A (p.Arg52=) rs140587295 0.00145
NM_003742.4(ABCB11):c.1636C>A (p.Gln546Lys) rs111482608 0.00107
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.1772A>G (p.Asn591Ser) rs11568367 0.00054
NM_003742.4(ABCB11):c.167C>T (p.Ser56Leu) rs11568361 0.00052
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.1248C>A (p.Ile416=) rs183390670 0.00032
NM_003742.4(ABCB11):c.3846C>T (p.Asn1282=) rs369538863 0.00024
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.2036C>T (p.Ala679Val) rs200912109 0.00012
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.282C>T (p.Asp94=) rs775605577 0.00005
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_003742.4(ABCB11):c.1198-7A>C rs752532486 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.1030G>A (p.Gly344Ser) rs750904445 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.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.1932G>A (p.Leu644=) rs750100537 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.3169C>T (p.Arg1057Ter) rs72549397 0.00001
NM_003742.4(ABCB11):c.3458G>A (p.Arg1153His) rs748862206 0.00001
NM_003742.4(ABCB11):c.3647G>C (p.Gly1216Ala) rs769192036 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.917A>G (p.Lys306Arg) rs1694321895 0.00001
NM_003742.4(ABCB11):c.1095T>C (p.Ser365=) rs1694080804
NM_003742.4(ABCB11):c.1124A>G (p.Asn375Ser) rs572222881
NM_003742.4(ABCB11):c.1409G>A (p.Arg470Gln) rs1463057954
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.2095T>C (p.Ser699Pro) rs867525294
NM_003742.4(ABCB11):c.2298G>A (p.Gly766=) rs200087122
NM_003742.4(ABCB11):c.2343+1G>T rs774411820
NM_003742.4(ABCB11):c.3382C>T (p.Arg1128Cys) rs764581483
NM_003742.4(ABCB11):c.3553A>G (p.Met1185Val) rs1691356249
NM_003742.4(ABCB11):c.3628A>C (p.Thr1210Pro) rs1691232631
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.896G>A (p.Arg299Lys) rs2287617
NM_003742.4(ABCB11):c.957A>G (p.Gly319=) rs7563233

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