ClinVar Miner

List of variants studied for cholestasis by Baylor Genetics

Included ClinVar conditions (33):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 164
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HGVS dbSNP gnomAD frequency
NM_001374385.1(ATP8B1):c.208G>A (p.Asp70Asn) rs34719006 0.00245
NM_000443.4(ABCB4):c.696C>T (p.Ala232=) rs8187791 0.00068
NM_000443.4(ABCB4):c.2324C>T (p.Thr775Met) rs148052192 0.00039
NM_004817.4(TJP2):c.3068C>T (p.Ala1023Val) rs199767035 0.00029
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_000443.4(ABCB4):c.1529A>G (p.Asn510Ser) rs375315619 0.00009
NM_001374385.1(ATP8B1):c.1982T>C (p.Ile661Thr) rs121909100 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_001374385.1(ATP8B1):c.2286-2A>G rs377132123 0.00005
NM_001374385.1(ATP8B1):c.1325A>G (p.Asn442Ser) rs755385749 0.00004
NM_001374385.1(ATP8B1):c.2821C>T (p.Arg941Ter) rs374340059 0.00004
NM_003742.4(ABCB11):c.3457C>T (p.Arg1153Cys) rs72549395 0.00004
NM_001374385.1(ATP8B1):c.2674G>A (p.Gly892Arg) rs121909098 0.00003
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_000443.4(ABCB4):c.526C>T (p.Arg176Trp) rs754287486 0.00002
NM_001374385.1(ATP8B1):c.2546G>A (p.Arg849Gln) rs144656719 0.00002
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_001374385.1(ATP8B1):c.1799G>A (p.Arg600Gln) rs1202682161 0.00001
NM_001374385.1(ATP8B1):c.1804C>T (p.Arg602Ter) rs121909105 0.00001
NM_001374385.1(ATP8B1):c.1993G>T (p.Glu665Ter) rs515726137 0.00001
NM_001374385.1(ATP8B1):c.2097+2T>C rs387906381 0.00001
NM_001374385.1(ATP8B1):c.279G>A (p.Ala93=) rs761575295 0.00001
NM_001374385.1(ATP8B1):c.2844del (p.Met947_Cys948insTer) rs752757689 0.00001
NM_001388308.1(KIF12):c.877C>T (p.Arg293Ter) rs1391374865 0.00001
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.2629G>A (p.Gly877Arg) rs745557569 0.00001
NM_003742.4(ABCB11):c.2782C>T (p.Arg928Ter) rs756529333 0.00001
NM_003742.4(ABCB11):c.2783_2787dup (p.Lys930fs) rs752919965 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
NM_004817.4(TJP2):c.1894C>T (p.Arg632Ter) rs928915940 0.00001
GRCh37/hg19 2q31.1(chr2:169824976-169830328)
NG_029843.1:g.23704_55438del
NM_000443.4(ABCB4):c.1134C>T (p.Asp378=) rs1811153797
NM_000443.4(ABCB4):c.1151G>T (p.Gly384Val)
NM_000443.4(ABCB4):c.2692G>A (p.Glu898Lys) rs1808782267
NM_000443.4(ABCB4):c.2906G>A (p.Arg969His) rs752916287
NM_000443.4(ABCB4):c.779T>C (p.Leu260Pro) rs1554409388
NM_001206979.2(NR1H4):c.419_420insAAA (p.Tyr139_Asn140insLys) rs879255644
NM_001206979.2(NR1H4):c.526C>T (p.Arg176Ter) rs113090017
NM_001371395.1(USP53):c.1702G>T (p.Asp568Tyr)
NM_001374385.1(ATP8B1):c.1081del (p.Tyr361fs)
NM_001374385.1(ATP8B1):c.1210_1213del (p.Leu404fs) rs1912544280
NM_001374385.1(ATP8B1):c.1214_1215del (p.Tyr405fs)
NM_001374385.1(ATP8B1):c.1246_1247del (p.His417fs)
NM_001374385.1(ATP8B1):c.1429+1G>T
NM_001374385.1(ATP8B1):c.1581CTT[2] (p.Phe529del) rs756395915
NM_001374385.1(ATP8B1):c.1781T>A (p.Leu594Ter)
NM_001374385.1(ATP8B1):c.1798C>T (p.Arg600Trp)
NM_001374385.1(ATP8B1):c.1884del (p.Leu629fs)
NM_001374385.1(ATP8B1):c.1891C>T (p.Arg631Ter) rs775370485
NM_001374385.1(ATP8B1):c.1932+1G>A rs1568188537
NM_001374385.1(ATP8B1):c.1943del (p.Asn648fs)
NM_001374385.1(ATP8B1):c.2081T>A (p.Ile694Asn)
NM_001374385.1(ATP8B1):c.2418+5G>A
NM_001374385.1(ATP8B1):c.2558T>C (p.Phe853Ser)
NM_001374385.1(ATP8B1):c.2807_2810dup (p.Val938fs)
NM_001374385.1(ATP8B1):c.2876_2877del (p.Phe959fs)
NM_001374385.1(ATP8B1):c.2940C>G (p.Tyr980Ter)
NM_001374385.1(ATP8B1):c.2941G>A (p.Glu981Lys)
NM_001374385.1(ATP8B1):c.2989G>A (p.Val997Met)
NM_001374385.1(ATP8B1):c.3131C>T (p.Ser1044Leu)
NM_001374385.1(ATP8B1):c.3400+2T>C
NM_001374385.1(ATP8B1):c.3473T>C (p.Leu1158Pro) rs1909527634
NM_001374385.1(ATP8B1):c.3490C>T (p.Arg1164Ter)
NM_001374385.1(ATP8B1):c.3494T>A (p.Phe1165Tyr) rs946672182
NM_001374385.1(ATP8B1):c.3531+1G>A
NM_001374385.1(ATP8B1):c.423G>A (p.Trp141Ter)
NM_001374385.1(ATP8B1):c.589_592delinsCTCCA (p.Gly197fs) rs1912903065
NM_001374385.1(ATP8B1):c.699-2A>G
NM_001374385.1(ATP8B1):c.736dup (p.Thr246fs)
NM_001374385.1(ATP8B1):c.773del (p.Thr258fs)
NM_001374385.1(ATP8B1):c.811A>T (p.Arg271Ter)
NM_001374385.1(ATP8B1):c.922G>A (p.Gly308Ser)
NM_001374385.1(ATP8B1):c.929dup (p.Ile311fs)
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.2688del (p.Phe896fs)
NM_003742.4(ABCB11):c.2702G>T (p.Ser901Ile)
NM_003742.4(ABCB11):c.2815-2A>G
NM_003742.4(ABCB11):c.2842C>T (p.Arg948Cys) rs1559183717
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
NM_004817.4(TJP2):c.1243del (p.Ser415fs) rs1057518679
NM_004817.4(TJP2):c.2524C>T (p.Gln842Ter) rs1830481830
NM_152672.6(SLC51A):c.437G>A (p.Arg146Lys)

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