ClinVar Miner

List of variants studied for Progressive familial intrahepatic cholestasis

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 74
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000443.4(ABCB4):c.2784-12T>C rs201498350 0.00019
NM_000443.4(ABCB4):c.959C>T (p.Ser320Phe) rs72552778 0.00018
NM_000443.4(ABCB4):c.1529A>G (p.Asn510Ser) rs375315619 0.00013
NM_003742.4(ABCB11):c.2834G>A (p.Ser945Asn) rs200857579 0.00013
NM_003742.4(ABCB11):c.890A>G (p.Glu297Gly) rs11568372 0.00011
NM_001374385.1(ATP8B1):c.1982T>C (p.Ile661Thr) rs121909100 0.00010
NM_003742.4(ABCB11):c.1460G>A (p.Arg487His) rs188824058 0.00009
NM_000443.4(ABCB4):c.140G>A (p.Arg47Gln) rs372685632 0.00006
NM_003742.4(ABCB11):c.2012-8T>G rs769910565 0.00005
NM_000404.4(GLB1):c.1769G>A (p.Arg590His) rs398123351 0.00003
NM_001374385.1(ATP8B1):c.2052C>T (p.Asp684=) rs370484798 0.00003
NM_000443.4(ABCB4):c.526C>T (p.Arg176Trp) rs754287486 0.00002
NM_001374385.1(ATP8B1):c.2558T>C (p.Phe853Ser) rs773092889 0.00002
NM_001374385.1(ATP8B1):c.2674G>A (p.Gly892Arg) rs121909098 0.00002
NM_001374385.1(ATP8B1):c.923G>T (p.Gly308Val) rs111033609 0.00002
NM_003742.4(ABCB11):c.1699G>A (p.Val567Ile) rs886055066 0.00002
NM_000443.4(ABCB4):c.2860G>A (p.Gly954Ser) rs779829759 0.00001
NM_000443.4(ABCB4):c.2932T>C (p.Ser978Pro) rs1051861187 0.00001
NM_000443.4(ABCB4):c.3486+1G>A rs764513998 0.00001
NM_000443.4(ABCB4):c.449G>A (p.Arg150Lys) rs757693457 0.00001
NM_001374385.1(ATP8B1):c.1030A>T (p.Ile344Phe) rs140665115 0.00001
NM_001374385.1(ATP8B1):c.1336G>A (p.Gly446Arg) rs1443328607 0.00001
NM_001374385.1(ATP8B1):c.1798C>T (p.Arg600Trp) rs780186596 0.00001
NM_001374385.1(ATP8B1):c.1993G>T (p.Glu665Ter) rs515726137 0.00001
NM_001374385.1(ATP8B1):c.2418+5G>A rs757976892 0.00001
NM_001374385.1(ATP8B1):c.2637G>A (p.Leu879=) rs199716374 0.00001
NM_001374385.1(ATP8B1):c.2844del (p.Met947_Cys948insTer) rs752757689 0.00001
NM_001374385.1(ATP8B1):c.922G>A (p.Gly308Ser) rs1007521320 0.00001
NM_003742.4(ABCB11):c.*193G>C rs886055061 0.00001
NM_003742.4(ABCB11):c.1493T>C (p.Ile498Thr) rs752043324 0.00001
NM_003742.4(ABCB11):c.154C>T (p.Arg52Trp) rs763526610 0.00001
NM_003742.4(ABCB11):c.1550G>A (p.Arg517His) rs760750012 0.00001
NM_003742.4(ABCB11):c.1568C>G (p.Ala523Gly) rs769652427 0.00001
NM_003742.4(ABCB11):c.1763C>T (p.Ala588Val) rs917981474 0.00001
NM_003742.4(ABCB11):c.2095T>C (p.Ser699Pro) rs867525294 0.00001
NM_003742.4(ABCB11):c.2296G>A (p.Gly766Arg) rs763782349 0.00001
NM_003742.4(ABCB11):c.2494C>T (p.Arg832Cys) rs772294884 0.00001
NM_003742.4(ABCB11):c.2842C>T (p.Arg948Cys) rs1559183717 0.00001
NM_003742.4(ABCB11):c.499G>A (p.Ala167Thr) rs139641883 0.00001
NC_000018.9:g.(55373820_55398858)_(55399062_55470229)del
NC_000018.9:g.(?_55313657)_(55321308_55322425)del
NM_000443.4(ABCB4):c.1436C>T (p.Pro479Leu) rs748657435
NM_000443.4(ABCB4):c.762del (p.Val255fs) rs2546854192
NM_000443.4(ABCB4):c.808G>A (p.Gly270Arg) rs551234479
NM_001374385.1(ATP8B1):c.*2015del rs35833803
NM_001374385.1(ATP8B1):c.1210_1213del (p.Leu404fs) rs1912544280
NM_001374385.1(ATP8B1):c.1581CTT[2] (p.Phe529del) rs756395915
NM_001374385.1(ATP8B1):c.2007G>A (p.Trp669Ter) rs2122711426
NM_001374385.1(ATP8B1):c.2098-17_2098-15dup rs34422185
NM_001374385.1(ATP8B1):c.2098-18_2098-15dup rs34422185
NM_001374385.1(ATP8B1):c.2098-19_2098-15dup rs34422185
NM_001374385.1(ATP8B1):c.2098-20_2098-15dup rs34422185
NM_001374385.1(ATP8B1):c.2098-21_2098-15dup rs34422185
NM_001374385.1(ATP8B1):c.3261+1G>C rs1568178734
NM_001374385.1(ATP8B1):c.3450C>T (p.Ile1150=) rs886054009
NM_001374385.1(ATP8B1):c.886C>T (p.Arg296Cys) rs2511769729
NM_003742.4(ABCB11):c.1024T>G (p.Trp342Gly)
NM_003742.4(ABCB11):c.1409G>A (p.Arg470Gln) rs1463057954
NM_003742.4(ABCB11):c.1809G>A (p.Lys603=) rs2545382640
NM_003742.4(ABCB11):c.1975C>T (p.Gln659Ter) rs1693467305
NM_003742.4(ABCB11):c.2075+2T>C rs1574445178
NM_003742.4(ABCB11):c.2495G>A (p.Arg832His) rs376255350
NM_003742.4(ABCB11):c.3094G>A (p.Gly1032Arg)
NM_003742.4(ABCB11):c.3329C>A (p.Ala1110Glu)
NM_003742.4(ABCB11):c.3352G>A (p.Gly1118Ser) rs1574398620
NM_003742.4(ABCB11):c.3382C>T (p.Arg1128Cys) rs764581483
NM_003742.4(ABCB11):c.3460T>C (p.Ser1154Pro) rs778415287
NM_003742.4(ABCB11):c.3527A>C (p.Tyr1176Ser)
NM_003742.4(ABCB11):c.3803G>A (p.Arg1268Gln) rs72549394
NM_003742.4(ABCB11):c.3806C>T (p.Thr1269Ile) rs2545224406
NM_003742.4(ABCB11):c.677C>T (p.Ser226Leu) rs1382100120
NM_003742.4(ABCB11):c.830C>A (p.Ala277Glu) rs1558912790
NM_003742.4(ABCB11):c.959_960del (p.Ile320fs) rs1418620415
NM_003742.4(ABCB11):c.99-2A>G rs2545487369

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.