ClinVar Miner

List of variants in gene ABCB11 reported by GeneDx

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 183
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_003742.4(ABCB11):c.2344-17T>C rs853789 0.75457
NM_003742.4(ABCB11):c.3057-263A>G rs494874 0.73641
NM_003742.4(ABCB11):c.909-15A>G rs2287618 0.72659
NM_003742.4(ABCB11):c.1309-165C>T rs2287621 0.66632
NM_003742.4(ABCB11):c.3056+256T>C rs552976 0.65181
NM_003742.4(ABCB11):c.*236A>G rs473351 0.61693
NM_003742.4(ABCB11):c.1084-259G>A rs12692889 0.57174
NM_003742.4(ABCB11):c.1434+70C>T rs2287623 0.57088
NM_003742.4(ABCB11):c.1434+174G>A rs2389605 0.57077
NM_003742.4(ABCB11):c.1639-293G>A rs4140386 0.57010
NM_003742.4(ABCB11):c.1638+32T>C rs2241340 0.57009
NM_003742.4(ABCB11):c.1331T>C (p.Val444Ala) rs2287622 0.57004
NM_003742.4(ABCB11):c.1309-311C>T rs10176901 0.57003
NM_003742.4(ABCB11):c.1639-152G>A rs2193831 0.56988
NM_003742.4(ABCB11):c.1638+80C>T rs2241341 0.56946
NM_003742.4(ABCB11):c.1308+335G>A rs4148785 0.56848
NM_003742.4(ABCB11):c.1435-293_1435-289del rs60323654 0.56777
NM_003742.4(ABCB11):c.2075+188G>T rs2892809 0.52827
NM_003742.4(ABCB11):c.2344-157T>G rs860510 0.47138
NM_003742.4(ABCB11):c.3765+206A>G rs519035 0.46747
NM_003742.4(ABCB11):c.3765+282A>G rs519887 0.46216
NM_003742.4(ABCB11):c.3084A>G (p.Ala1028=) rs497692 0.46166
NM_003742.4(ABCB11):c.2179-17C>A rs853772 0.45482
NM_003742.4(ABCB11):c.2011+218C>T rs5836216 0.42782
NM_003742.4(ABCB11):c.1083+282C>G rs13416802 0.23466
NM_003742.4(ABCB11):c.2178+97A>G rs4148795 0.22653
NM_003742.4(ABCB11):c.2178+98T>C rs4148796 0.22651
NM_003742.4(ABCB11):c.3618+101A>C rs7561903 0.20048
NM_003742.4(ABCB11):c.2076-314T>C rs13404242 0.15310
NM_003742.4(ABCB11):c.99-18T>C rs4148776 0.13692
NM_003742.4(ABCB11):c.908+108A>G rs4148780 0.13132
NM_003742.4(ABCB11):c.2076-280T>C rs13404228 0.11903
NM_003742.4(ABCB11):c.909-17G>A rs7602204 0.11221
NM_003742.4(ABCB11):c.98+83C>T rs10199694 0.10059
NM_003742.4(ABCB11):c.478-191T>C rs13407866 0.09529
NM_003742.4(ABCB11):c.784-323A>C rs2287613 0.07742
NM_003742.4(ABCB11):c.1084-241A>G rs2287619 0.07400
NM_003742.4(ABCB11):c.1309-93G>A rs55669065 0.07356
NM_003742.4(ABCB11):c.-28+122A>T rs13416851 0.07167
NM_003742.4(ABCB11):c.3056+99A>G rs61587142 0.06860
NM_003742.4(ABCB11):c.1639-273T>C rs2216502 0.06790
NM_003742.4(ABCB11):c.1639-264C>A rs34882395 0.06696
NM_003742.4(ABCB11):c.783+285T>C rs73972740 0.06442
NM_003742.4(ABCB11):c.783+126T>A rs13419622 0.06435
NM_003742.4(ABCB11):c.2029A>G (p.Met677Val) rs11568364 0.06201
NM_003742.4(ABCB11):c.2179-269T>C rs74397894 0.05470
NM_003742.4(ABCB11):c.477+16G>A rs11568378 0.05331
NM_003742.4(ABCB11):c.402C>T (p.Ile134=) rs11568377 0.05330
NM_003742.4(ABCB11):c.-27-50G>A rs4148772 0.05099
NM_003742.4(ABCB11):c.270T>C (p.Phe90=) rs4148777 0.05096
NM_003742.4(ABCB11):c.389+320T>C rs4148778 0.05087
NM_003742.4(ABCB11):c.3618+99C>A rs114932341 0.04954
NM_003742.4(ABCB11):c.784-109A>C rs2287614 0.04571
NM_003742.4(ABCB11):c.390-91A>T rs187464616 0.04438
NM_003742.4(ABCB11):c.2011+218_2011+219del rs201167123 0.04427
NM_003742.4(ABCB11):c.1809+86G>A rs7576531 0.03876
NM_003742.4(ABCB11):c.390-89del rs201421224 0.03227
NM_003742.4(ABCB11):c.1639-292T>C rs6758316 0.03199
NM_003742.4(ABCB11):c.1435-144A>G rs111401162 0.03180
NM_003742.4(ABCB11):c.909-69C>T rs55652734 0.03174
NM_003742.4(ABCB11):c.909-31C>T rs55968806 0.03171
NM_003742.4(ABCB11):c.478-129G>A rs17208900 0.03160
NM_003742.4(ABCB11):c.1809+118T>C rs80049571 0.02819
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.1810-122C>A rs75043801 0.02575
NM_003742.4(ABCB11):c.909-107C>T rs7602485 0.02520
NM_003742.4(ABCB11):c.389+90C>G rs11902627 0.02491
NM_003742.4(ABCB11):c.389+8G>A rs11568363 0.02444
NM_003742.4(ABCB11):c.1083+18A>T rs7560402 0.02434
NM_003742.4(ABCB11):c.1083+213G>T rs146292839 0.02432
NM_003742.4(ABCB11):c.1638+128del rs55868238 0.02240
NM_003742.4(ABCB11):c.2610+174T>C rs75899188 0.01757
NM_003742.4(ABCB11):c.1308+122G>A rs77540371 0.01660
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.784-87T>A rs2287615 0.01133
NM_003742.4(ABCB11):c.108T>C (p.Asp36=) rs3815675 0.01118
NM_003742.4(ABCB11):c.1308+116G>A rs4148783 0.01110
NM_003742.4(ABCB11):c.1810-124G>A rs2389612 0.01101
NM_003742.4(ABCB11):c.77-17del rs11568375 0.01069
NM_003742.4(ABCB11):c.3214-115G>A rs183562693 0.00970
NM_003742.4(ABCB11):c.2012-89T>C rs75793686 0.00946
NM_003742.4(ABCB11):c.3556G>A (p.Glu1186Lys) rs1521808 0.00943
NM_003742.4(ABCB11):c.390-89A>T rs546799530 0.00772
NM_003742.4(ABCB11):c.2011+87A>C rs142345608 0.00702
NM_003742.4(ABCB11):c.3057-34C>T rs141561365 0.00643
NM_003742.4(ABCB11):c.3330G>A (p.Ala1110=) rs113099601 0.00643
NM_003742.4(ABCB11):c.1435-129G>A rs141899900 0.00525
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.2344-122T>C rs79777432 0.00341
NM_003742.4(ABCB11):c.2943C>T (p.Tyr981=) rs145720664 0.00273
NM_003742.4(ABCB11):c.1791G>T (p.Val597=) rs11568371 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.2985G>A (p.Ala995=) rs113923887 0.00086
NM_003742.4(ABCB11):c.3435A>G (p.Lys1145=) rs11568366 0.00086
NM_003742.4(ABCB11):c.174C>T (p.Asp58=) rs11568362 0.00085
NM_003742.4(ABCB11):c.2610+18A>C rs11568374 0.00065
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.2927A>G (p.Gln976Arg) rs199940188 0.00050
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_003742.4(ABCB11):c.1638+17A>T rs368613163 0.00029
NM_003742.4(ABCB11):c.2594C>T (p.Ala865Val) rs118109635 0.00029
NM_003742.4(ABCB11):c.851T>C (p.Val284Ala) rs200739891 0.00025
NM_003742.4(ABCB11):c.477A>G (p.Gln159=) rs191042013 0.00024
NM_003742.4(ABCB11):c.2449-9A>C rs376959410 0.00023
NM_003742.4(ABCB11):c.1062T>C (p.Tyr354=) rs376258647 0.00014
NM_003742.4(ABCB11):c.890A>G (p.Glu297Gly) rs11568372 0.00011
NM_003742.4(ABCB11):c.3132T>C (p.Ala1044=) rs199974713 0.00010
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.2012-8T>G rs769910565 0.00006
NM_003742.4(ABCB11):c.2125G>A (p.Glu709Lys) rs201800225 0.00006
NM_003742.4(ABCB11):c.3618+9G>A rs367984611 0.00005
NM_003742.4(ABCB11):c.3457C>T (p.Arg1153Cys) rs72549395 0.00004
NM_003742.4(ABCB11):c.801G>A (p.Thr267=) rs753433179 0.00003
NM_003742.4(ABCB11):c.1732A>G (p.Lys578Glu) rs1389106831 0.00002
NM_003742.4(ABCB11):c.2453A>T (p.Tyr818Phe) rs374548469 0.00002
NM_003742.4(ABCB11):c.76+3G>A rs1401888612 0.00002
NM_003742.4(ABCB11):c.1350G>T (p.Met450Ile) rs542821407 0.00001
NM_003742.4(ABCB11):c.1550G>A (p.Arg517His) rs760750012 0.00001
NM_003742.4(ABCB11):c.2011+18A>G rs181357802 0.00001
NM_003742.4(ABCB11):c.3412-13C>T rs753065852 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.3768G>A (p.Thr1256=) rs773371540 0.00001
NM_003742.4(ABCB11):c.3962G>A (p.Ser1321Asn) rs201693189 0.00001
NM_003742.4(ABCB11):c.*6T>A rs1057521457
NM_003742.4(ABCB11):c.1084-19CT[3] rs538484351
NM_003742.4(ABCB11):c.1084-209A>C rs2287620
NM_003742.4(ABCB11):c.1084-219del rs3214428
NM_003742.4(ABCB11):c.1197+180_1197+193del rs55859131
NM_003742.4(ABCB11):c.1197+183_1197+193del rs55859131
NM_003742.4(ABCB11):c.1197+190_1197+193del rs55859131
NM_003742.4(ABCB11):c.1197+191_1197+193del
NM_003742.4(ABCB11):c.1197+193dup
NM_003742.4(ABCB11):c.1198-250C>A rs28727965
NM_003742.4(ABCB11):c.1198-302G>T rs28719023
NM_003742.4(ABCB11):c.1308+326C>G rs4148784
NM_003742.4(ABCB11):c.151-275G>T rs2241339
NM_003742.4(ABCB11):c.151-9T>C rs765860589
NM_003742.4(ABCB11):c.1810-18C>T rs1574447276
NM_003742.4(ABCB11):c.2011+218del rs35908291
NM_003742.4(ABCB11):c.2011+219dup rs66474338
NM_003742.4(ABCB11):c.2011+233del rs66474338
NM_003742.4(ABCB11):c.2011+8C>G rs896725376
NM_003742.4(ABCB11):c.2012-248del rs34849968
NM_003742.4(ABCB11):c.2012-301del rs4148788
NM_003742.4(ABCB11):c.2012-310dup rs4148788
NM_003742.4(ABCB11):c.2075+194G>T rs2389613
NM_003742.4(ABCB11):c.2075+289_2075+291dup rs4000815
NM_003742.4(ABCB11):c.2075+289_2075+292dup rs4000815
NM_003742.4(ABCB11):c.2075+295_2075+296insAAAG rs4233822
NM_003742.4(ABCB11):c.2076-291del rs113545972
NM_003742.4(ABCB11):c.2343+127T>C rs853773
NM_003742.4(ABCB11):c.2343+15G>A rs1553553549
NM_003742.4(ABCB11):c.2343+1G>T rs774411820
NM_003742.4(ABCB11):c.2344-31_2344-30insAAC rs201279156
NM_003742.4(ABCB11):c.236T>A (p.Val79Glu) rs886044603
NM_003742.4(ABCB11):c.3240del (p.Phe1080fs) rs1553545923
NM_003742.4(ABCB11):c.3570A>G (p.Ala1190=) rs1574394033
NM_003742.4(ABCB11):c.3766-34A>G rs579275
NM_003742.4(ABCB11):c.3800G>A (p.Gly1267Asp)
NM_003742.4(ABCB11):c.390-83del rs66536812
NM_003742.4(ABCB11):c.611+189C>G rs13432949
NM_003742.4(ABCB11):c.77-171GA[6] rs140755843
NM_003742.4(ABCB11):c.77-224GT[19] rs71397686
NM_003742.4(ABCB11):c.77-224GT[20] rs71397686
NM_003742.4(ABCB11):c.77-224GT[21] rs71397686
NM_003742.4(ABCB11):c.77-224GT[23] rs71397686
NM_003742.4(ABCB11):c.77-224GT[24] rs71397686
NM_003742.4(ABCB11):c.77-224GT[25] rs71397686
NM_003742.4(ABCB11):c.77-330_77-329insGTCAGATCTTCTTCAGCTAATTTAGAAAT rs4148774
NM_003742.4(ABCB11):c.784-177G>A
NM_003742.4(ABCB11):c.896_897delinsTT (p.Arg299Ile) rs2106004734
NM_003742.4(ABCB11):c.936G>T (p.Gln312His) rs770497192
NM_003742.4(ABCB11):c.957A>G (p.Gly319=) rs7563233

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.