ClinVar Miner

List of variants reported as benign for biliary tract disorder

Included ClinVar conditions (55):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 237
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HGVS dbSNP gnomAD frequency
NM_001374385.1(ATP8B1):c.3454G>A (p.Ala1152Thr) rs222581 0.99879
NM_001374385.1(ATP8B1):c.696T>C (p.Asp232=) rs319438 0.99384
NM_001374385.1(ATP8B1):c.1430-89C>T rs319459 0.99232
NM_001374385.1(ATP8B1):c.699-52C>T rs319442 0.99086
NM_001374385.1(ATP8B1):c.811A>C (p.Arg271=) rs319443 0.99084
NM_016356.5(DCDC2):c.426-13C>T rs807703 0.98337
NM_024408.4(NOTCH2):c.1108+30A>G rs2493409 0.97622
NM_000443.4(ABCB4):c.1357-40A>G rs31675 0.92657
NM_000443.4(ABCB4):c.2211+16C>T rs31668 0.92183
NM_000443.4(ABCB4):c.3487-16T>C rs31653 0.91450
NM_004817.4(TJP2):c.239+19T>C rs2498417 0.90366
NM_021101.5(CLDN1):c.369T>C (p.Gly123=) rs9869263 0.83180
NM_004817.4(TJP2):c.1446C>A (p.Asp482Glu) rs2309428 0.77489
NM_003742.4(ABCB11):c.2344-17T>C rs853789 0.75457
NM_000443.4(ABCB4):c.2211+72T>C rs31667 0.75307
NM_003742.4(ABCB11):c.909-15A>G rs2287618 0.72659
NM_016356.5(DCDC2):c.*3C>G rs9358755 0.72045
NM_000214.3(JAG1):c.3417T>C (p.Tyr1139=) rs1051419 0.71278
NM_003742.4(ABCB11):c.*236A>G rs473351 0.61693
NM_003742.4(ABCB11):c.1434+70C>T rs2287623 0.57088
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.1638+80C>T rs2241341 0.56946
NM_016356.5(DCDC2):c.661A>G (p.Ser221Gly) rs2274305 0.51051
NM_003742.4(ABCB11):c.*368G>A rs495714 0.47735
NM_003742.4(ABCB11):c.*420A>G rs496550 0.47337
NM_003742.4(ABCB11):c.2344-157T>G rs860510 0.47138
NM_003742.4(ABCB11):c.3084A>G (p.Ala1028=) rs497692 0.46166
NM_003742.4(ABCB11):c.2179-17C>A rs853772 0.45482
NM_000214.3(JAG1):c.440-173C>T rs2273061 0.45420
NM_000214.3(JAG1):c.440-15T>C rs2273060 0.42936
NM_000214.3(JAG1):c.765C>T (p.Tyr255=) rs1131695 0.42930
NM_001374385.1(ATP8B1):c.698+20C>T rs319439 0.42536
NM_000443.4(ABCB4):c.504C>T (p.Asn168=) rs1202283 0.41352
NM_001374385.1(ATP8B1):c.1932+44C>T rs317838 0.39951
NM_004817.4(TJP2):c.2992-19G>A rs2282335 0.39706
NM_001374385.1(ATP8B1):c.-106C>T rs1848701 0.38084
NM_001374385.1(ATP8B1):c.*1509A>G rs1968274 0.25162
NM_000443.4(ABCB4):c.175C>T (p.Leu59=) rs2302387 0.23630
NM_004817.4(TJP2):c.2715C>T (p.Thr905=) rs2282336 0.22650
NM_004817.4(TJP2):c.2727G>A (p.Ala909=) rs2095876 0.22643
NM_004817.4(TJP2):c.2180-34G>A rs2309421 0.22518
NM_000443.4(ABCB4):c.711A>T (p.Ile237=) rs2109505 0.22260
NM_000214.3(JAG1):c.3528C>T (p.Tyr1176=) rs1051421 0.22213
NM_024408.4(NOTCH2):c.2753-44C>T rs2493420 0.22074
NM_001374385.1(ATP8B1):c.*1254T>C rs17685852 0.20609
NM_001374385.1(ATP8B1):c.*1937T>A rs1129621 0.20604
NM_001374385.1(ATP8B1):c.3532-15C>T rs12958967 0.19806
NM_000443.4(ABCB4):c.1954A>G (p.Arg652Gly) rs2230028 0.15795
NM_016356.5(DCDC2):c.1368A>T (p.Lys456Asn) rs9460973 0.15425
NM_003742.4(ABCB11):c.99-18T>C rs4148776 0.13692
NM_016356.5(DCDC2):c.1017C>T (p.Val339=) rs9467075 0.13584
NM_003742.4(ABCB11):c.908+108A>G rs4148780 0.13132
NM_001374385.1(ATP8B1):c.3531+8G>T rs34027711 0.12129
NM_000214.3(JAG1):c.588C>T (p.Cys196=) rs1801138 0.10620
NM_001374385.1(ATP8B1):c.*1723G>A rs11543269 0.09080
NM_000214.3(JAG1):c.2214A>C (p.Thr738=) rs1801140 0.08364
NM_000214.3(JAG1):c.267G>A (p.Gly89=) rs1051415 0.08298
NM_001374385.1(ATP8B1):c.2855G>A (p.Arg952Gln) rs12968116 0.08072
NM_000214.3(JAG1):c.2382C>T (p.Ser794=) rs56225585 0.07991
NM_001374385.1(ATP8B1):c.*283G>A rs11152024 0.07759
NM_003742.4(ABCB11):c.1309-93G>A rs55669065 0.07356
NM_000214.3(JAG1):c.744A>G (p.Pro248=) rs10485741 0.06947
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_000214.3(JAG1):c.2612C>G (p.Pro871Arg) rs35761929 0.04795
NM_032830.3(UTP4):c.714C>T (p.Asp238=) rs2288036 0.04782
NM_016356.5(DCDC2):c.183C>T (p.Ala61=) rs33943110 0.04583
NM_016356.5(DCDC2):c.454C>G (p.Pro152Ala) rs33914824 0.03882
NM_032830.3(UTP4):c.1906C>T (p.Arg636Cys) rs61185783 0.03200
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_000443.4(ABCB4):c.2363G>A (p.Arg788Gln) rs8187801 0.02594
NM_000214.3(JAG1):c.270G>T (p.Gly90=) rs114048678 0.02490
NM_003742.4(ABCB11):c.389+8G>A rs11568363 0.02444
NM_000214.3(JAG1):c.924C>T (p.Asn308=) rs45575136 0.02367
NM_032830.3(UTP4):c.*68A>G rs74886619 0.01911
NM_001374385.1(ATP8B1):c.3016-9C>A rs34729241 0.01910
NM_000214.3(JAG1):c.2766C>T (p.Asp922=) rs2229895 0.01701
NM_000443.4(ABCB4):c.459T>C (p.Phe153=) rs2230027 0.01640
NM_003742.4(ABCB11):c.1185G>A (p.Glu395=) rs57509552 0.01590
NM_001374385.1(ATP8B1):c.1739G>A (p.Ser580Asn) rs33963153 0.01293
NM_000214.3(JAG1):c.436G>A (p.Val146Ile) rs6040067 0.01238
NM_000443.4(ABCB4):c.-6-4T>C rs8187785 0.01231
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_000443.4(ABCB4):c.2325G>C (p.Thr775=) rs8187802 0.01001
NM_001374385.1(ATP8B1):c.*11C>T rs34255016 0.00974
NM_003742.4(ABCB11):c.3556G>A (p.Glu1186Lys) rs1521808 0.00943
NM_000443.4(ABCB4):c.523A>G (p.Thr175Ala) rs58238559 0.00910
NM_000214.3(JAG1):c.2227+17C>T rs115449289 0.00903
NM_000443.4(ABCB4):c.1584G>C (p.Glu528Asp) rs8187797 0.00888
NM_001080467.3(MYO5B):c.1793C>T (p.Pro598Leu) rs75107667 0.00802
NM_001374385.1(ATP8B1):c.*888C>G rs149436273 0.00683
NM_032830.3(UTP4):c.1257T>C (p.Asn419=) rs149792921 0.00658
NM_003742.4(ABCB11):c.3330G>A (p.Ala1110=) rs113099601 0.00643
NM_000443.4(ABCB4):c.1769G>A (p.Arg590Gln) rs45575636 0.00625
NM_000214.3(JAG1):c.2459-17A>C rs35891274 0.00618
NM_000214.3(JAG1):c.2573-16C>T rs112196689 0.00608
NM_001374385.1(ATP8B1):c.2664G>T (p.Thr888=) rs35757087 0.00529
NM_032830.3(UTP4):c.1313G>A (p.Arg438His) rs8056684 0.00522
NM_032830.3(UTP4):c.270G>A (p.Ala90=) rs16958656 0.00501
NM_003742.4(ABCB11):c.2093G>A (p.Arg698His) rs138642043 0.00495
NM_000443.4(ABCB4):c.1314G>A (p.Thr438=) rs45624933 0.00490
NM_001374385.1(ATP8B1):c.2789G>A (p.Arg930Gln) rs35623014 0.00451
NM_001374385.1(ATP8B1):c.-25-6T>C rs35671095 0.00443
NM_001374385.1(ATP8B1):c.*1940A>G rs117693241 0.00436
NM_003742.4(ABCB11):c.2134T>C (p.Leu712=) rs191649793 0.00401
NM_000051.4(ATM):c.1176C>G (p.Gly392=) rs1800727 0.00388
NM_001374385.1(ATP8B1):c.2442G>T (p.Lys814Asn) rs34018300 0.00328
NM_004817.4(TJP2):c.2992-8C>T rs143965233 0.00327
NM_016356.5(DCDC2):c.1044C>T (p.Asp348=) rs143313706 0.00286
NM_016356.5(DCDC2):c.425+14C>A rs77544788 0.00279
NM_016356.5(DCDC2):c.855A>G (p.Ser285=) rs141519329 0.00249
NM_024408.4(NOTCH2):c.7223T>A (p.Leu2408His) rs35586704 0.00228
NM_000214.3(JAG1):c.886+19A>T rs200311847 0.00226
NM_001374385.1(ATP8B1):c.3016-19A>G rs139202277 0.00210
NM_001374385.1(ATP8B1):c.1286A>C (p.Glu429Ala) rs34018205 0.00201
NM_000214.3(JAG1):c.1007-16A>G rs201709907 0.00198
NM_000443.4(ABCB4):c.-1G>A rs45449704 0.00181
NM_000214.3(JAG1):c.2810G>A (p.Arg937Gln) rs145895196 0.00180
NM_000214.3(JAG1):c.2301G>A (p.Thr767=) rs147634857 0.00165
NM_032830.3(UTP4):c.1693C>T (p.Arg565Trp) rs119465999 0.00150
NM_001374385.1(ATP8B1):c.3477C>T (p.Pro1159=) rs117182648 0.00137
NM_001374385.1(ATP8B1):c.3744C>A (p.Thr1248=) rs2271771 0.00137
NM_001374385.1(ATP8B1):c.1729A>G (p.Ile577Val) rs3745078 0.00135
NM_001374385.1(ATP8B1):c.234C>G (p.His78Gln) rs3745079 0.00124
NM_000443.4(ABCB4):c.101C>T (p.Thr34Met) rs142794414 0.00123
NM_000214.3(JAG1):c.909T>C (p.His303=) rs139574260 0.00121
NM_000214.3(JAG1):c.1120+10A>G rs201711717 0.00118
NM_000214.3(JAG1):c.2778C>T (p.Phe926=) rs147793030 0.00109
NM_003742.4(ABCB11):c.1636C>A (p.Gln546Lys) rs111482608 0.00107
NM_001009944.3(PKD1):c.8298C>T (p.Ser2766=) rs145850037 0.00102
NM_001374385.1(ATP8B1):c.2931+14G>A rs34451179 0.00101
NM_000214.3(JAG1):c.1578C>T (p.Ile526=) rs1801139 0.00092
NM_000214.3(JAG1):c.439+10G>A rs201371037 0.00081
NM_000249.4(MLH1):c.1151T>A (p.Val384Asp) rs63750447 0.00077
NM_000214.3(JAG1):c.1349-11T>G rs80338240 0.00076
NM_000214.3(JAG1):c.133G>T (p.Val45Leu) rs183974372 0.00054
NM_003742.4(ABCB11):c.1772A>G (p.Asn591Ser) rs11568367 0.00054
NM_032830.3(UTP4):c.1788C>T (p.Ile596=) rs75998507 0.00051
NM_000214.3(JAG1):c.2329C>T (p.Pro777Ser) rs202063628 0.00044
NM_000214.3(JAG1):c.1920C>T (p.Asn640=) rs372121353 0.00040
NM_003742.4(ABCB11):c.1605C>T (p.Ala535=) rs144848376 0.00039
NM_000214.3(JAG1):c.2604T>C (p.Ser868=) rs138189639 0.00032
NM_016356.5(DCDC2):c.478A>C (p.Arg160=) rs201204772 0.00030
NM_000214.3(JAG1):c.2344+15C>G rs200139177 0.00029
NM_003742.4(ABCB11):c.2594C>T (p.Ala865Val) rs118109635 0.00029
NM_000214.3(JAG1):c.3114T>G (p.Leu1038=) rs371805640 0.00026
NM_000214.3(JAG1):c.414G>A (p.Ala138=) rs371682149 0.00026
NM_000214.3(JAG1):c.3507G>C (p.Arg1169=) rs138452567 0.00022
NM_000214.3(JAG1):c.2459-13C>T rs543005578 0.00017
NM_000214.3(JAG1):c.2596A>G (p.Met866Val) rs746108409 0.00016
NM_000214.3(JAG1):c.1806C>T (p.His602=) rs764290237 0.00015
NM_000214.3(JAG1):c.19C>T (p.Arg7Cys) rs563232654 0.00011
NM_000214.3(JAG1):c.3346C>T (p.Arg1116Trp) rs377723772 0.00011
NM_000214.3(JAG1):c.1570-20G>A rs140937305 0.00010
NM_001374385.1(ATP8B1):c.2498G>A (p.Arg833Gln) rs568134011 0.00010
NM_000214.3(JAG1):c.2350A>G (p.Asn784Asp) rs760470297 0.00009
NM_000214.3(JAG1):c.3006C>T (p.Cys1002=) rs372984801 0.00008
NM_000214.3(JAG1):c.1062C>T (p.Thr354=) rs201234509 0.00007
NM_000214.3(JAG1):c.2828C>T (p.Pro943Leu) rs767826365 0.00007
NM_000214.3(JAG1):c.3652G>A (p.Val1218Ile) rs150295026 0.00007
NM_000214.3(JAG1):c.316A>G (p.Thr106Ala) rs909905245 0.00006
NM_000214.3(JAG1):c.3583A>G (p.Asn1195Asp) rs397515876 0.00006
NM_000214.3(JAG1):c.5G>T (p.Arg2Leu) rs1026004197 0.00006
NM_000214.3(JAG1):c.2781C>T (p.Val927=) rs746664646 0.00005
NM_000214.3(JAG1):c.2928G>A (p.Thr976=) rs764341568 0.00005
NM_000214.3(JAG1):c.3065G>A (p.Arg1022Gln) rs376089631 0.00005
NM_000214.3(JAG1):c.3570G>A (p.Pro1190=) rs201572666 0.00005
NM_000214.3(JAG1):c.1439C>T (p.Ala480Val) rs149366993 0.00004
NM_000214.3(JAG1):c.1511A>G (p.Asn504Ser) rs527236046 0.00004
NM_000214.3(JAG1):c.2139G>A (p.Thr713=) rs374177670 0.00004
NM_000214.3(JAG1):c.2827C>T (p.Pro943Ser) rs760332763 0.00004
NM_000214.3(JAG1):c.1797T>C (p.Cys599=) rs746760284 0.00003
NM_000214.3(JAG1):c.2114-18T>C rs766999933 0.00003
NM_000214.3(JAG1):c.3141G>A (p.Ser1047=) rs202075581 0.00003
NM_000214.3(JAG1):c.1443C>T (p.Gly481=) rs879921003 0.00002
NM_000214.3(JAG1):c.2911T>C (p.Ser971Pro) rs750570683 0.00002
NM_000214.3(JAG1):c.3523G>A (p.Ala1175Thr) rs769685858 0.00002
NM_000214.3(JAG1):c.3542G>A (p.Arg1181Lys) rs758788135 0.00002
NM_000214.3(JAG1):c.388-4G>C rs567027490 0.00002
NM_000214.3(JAG1):c.1367G>A (p.Gly456Asp) rs534533867 0.00001
NM_000214.3(JAG1):c.2559C>T (p.Ala853=) rs201234393 0.00001
NM_000214.3(JAG1):c.2615A>G (p.Asp872Gly) rs111706668 0.00001
NM_000214.3(JAG1):c.2779G>A (p.Val927Ile) rs770415804 0.00001
NM_000214.3(JAG1):c.3562G>A (p.Gly1188Ser) rs1051571820 0.00001
NM_000214.3(JAG1):c.702C>T (p.Cys234=) rs202109974 0.00001
NM_000443.4(ABCB4):c.1938T>C (p.Asp646=) rs553616378 0.00001
NM_003742.4(ABCB11):c.-97T>C rs568098536 0.00001
NM_000214.3(JAG1):c.1205C>G (p.Pro402Arg) rs144204614
NM_000214.3(JAG1):c.1230G>A (p.Gln410=)
NM_000214.3(JAG1):c.1263T>C (p.Cys421=)
NM_000214.3(JAG1):c.1349-8dup rs767319365
NM_000214.3(JAG1):c.1368C>T (p.Gly456=)
NM_000214.3(JAG1):c.1396-27TC[6] rs544547916
NM_000214.3(JAG1):c.1414C>T (p.Arg472Cys)
NM_000214.3(JAG1):c.1438G>T (p.Ala480Ser)
NM_000214.3(JAG1):c.2150G>C (p.Gly717Ala) rs200473477
NM_000214.3(JAG1):c.2188A>G (p.Met730Val)
NM_000214.3(JAG1):c.2280G>T (p.Val760=)
NM_000214.3(JAG1):c.2344+17del rs774508190
NM_000214.3(JAG1):c.2581A>G (p.Arg861Gly)
NM_000214.3(JAG1):c.2616T>C (p.Asp872=)
NM_000214.3(JAG1):c.2620G>A (p.Ala874Thr)
NM_000214.3(JAG1):c.2632G>A (p.Asp878Asn) rs750102792
NM_000214.3(JAG1):c.2699G>A (p.Arg900Gln)
NM_000214.3(JAG1):c.2884A>G (p.Thr962Ala)
NM_000214.3(JAG1):c.2916+27del rs3215563
NM_000214.3(JAG1):c.294C>T (p.Ser98=) rs79338570
NM_000214.3(JAG1):c.3124C>T (p.Arg1042Cys)
NM_000214.3(JAG1):c.3178C>T (p.Arg1060Trp)
NM_000214.3(JAG1):c.3302G>A (p.Ser1101Asn)
NM_000214.3(JAG1):c.3309A>T (p.Thr1103=)
NM_000214.3(JAG1):c.33G>T (p.Gly11=)
NM_000214.3(JAG1):c.346G>T (p.Asp116Tyr)
NM_000214.3(JAG1):c.3503C>G (p.Ala1168Gly)
NM_000214.3(JAG1):c.3505C>G (p.Arg1169Gly) rs368162343
NM_000214.3(JAG1):c.3577C>T (p.His1193Tyr)
NM_000214.3(JAG1):c.694+4TG[8] rs112693360
NM_000214.3(JAG1):c.695-10dup rs762788344
NM_000214.3(JAG1):c.695-5del rs762788344
NM_001374385.1(ATP8B1):c.*2015del rs35833803
NM_001374385.1(ATP8B1):c.*587G>A rs317822
NM_001374385.1(ATP8B1):c.*900G>T rs4940950
NM_001374385.1(ATP8B1):c.1430-126_1430-124del rs10594129
NM_001374385.1(ATP8B1):c.2098-18_2098-15dup rs34422185
NM_001374385.1(ATP8B1):c.2098-20_2098-15dup rs34422185
NM_001374385.1(ATP8B1):c.3699G>A (p.Pro1233=) rs35953143
NM_003742.4(ABCB11):c.3766-34A>G rs579275
NM_003742.4(ABCB11):c.957A>G (p.Gly319=) rs7563233
NM_004817.4(TJP2):c.1672-27del rs202100183
NM_016356.5(DCDC2):c.294-21GTTT[2] rs374485384
NM_016356.5(DCDC2):c.349-16dup rs746353912
NM_024408.4(NOTCH2):c.15C>T (p.Arg5=) rs4021006

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