ClinVar Miner

List of variants studied for biliary tract disorder by OMIM

Included ClinVar conditions (55):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 105
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HGVS dbSNP gnomAD frequency
NM_000443.4(ABCB4):c.523A>G (p.Thr175Ala) rs58238559 0.00910
NM_000443.4(ABCB4):c.1769G>A (p.Arg590Gln) rs45575636 0.00625
NM_001374385.1(ATP8B1):c.208G>A (p.Asp70Asn) rs34719006 0.00245
NM_032830.3(UTP4):c.1693C>T (p.Arg565Trp) rs119465999 0.00150
NM_003612.5(SEMA7A):c.442C>T (p.Arg148Trp) rs200895370 0.00023
NM_000443.4(ABCB4):c.959C>T (p.Ser320Phe) rs72552778 0.00018
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_001374385.1(ATP8B1):c.1982T>C (p.Ile661Thr) rs121909100 0.00009
NM_001374385.1(ATP8B1):c.923G>T (p.Gly308Val) rs111033609 0.00006
NM_001080467.3(MYO5B):c.1201C>T (p.Arg401Cys) rs761492029 0.00004
NM_000443.4(ABCB4):c.3481C>T (p.Pro1161Ser) rs121918442 0.00003
NM_001374385.1(ATP8B1):c.2674G>A (p.Gly892Arg) rs121909098 0.00003
NM_000443.4(ABCB4):c.2869C>T (p.Arg957Ter) rs121918440 0.00002
NM_001077268.2(ZFYVE19):c.226A>G (p.Met76Val) rs1215965232 0.00002
NM_001388308.1(KIF12):c.1070G>A (p.Arg357Gln) rs746948055 0.00002
NM_021101.5(CLDN1):c.242G>A (p.Arg81His) rs200968478 0.00002
NM_000443.4(ABCB4):c.430C>T (p.Arg144Ter) rs72552780 0.00001
NM_001077268.2(ZFYVE19):c.314C>G (p.Ser105Ter) rs769683740 0.00001
NM_001077268.2(ZFYVE19):c.514C>T (p.Arg172Ter) rs753989803 0.00001
NM_001077268.2(ZFYVE19):c.547C>T (p.Arg183Ter) rs771251472 0.00001
NM_001077268.2(ZFYVE19):c.667C>T (p.Arg223Ter) rs375497733 0.00001
NM_001080467.3(MYO5B):c.1021C>T (p.Gln341Ter) rs776708126 0.00001
NM_001080467.3(MYO5B):c.1463T>C (p.Ile488Thr) rs780547885 0.00001
NM_001080467.3(MYO5B):c.2395C>T (p.Arg799Trp) rs575729461 0.00001
NM_001080467.3(MYO5B):c.274C>T (p.Arg92Cys) rs372682296 0.00001
NM_001371395.1(USP53):c.1012C>T (p.Arg338Ter) rs751511532 0.00001
NM_001371395.1(USP53):c.169C>T (p.Arg57Ter) rs376368459 0.00001
NM_001371395.1(USP53):c.297G>T (p.Arg99Ser) rs762702807 0.00001
NM_001374385.1(ATP8B1):c.1804C>T (p.Arg602Ter) rs121909105 0.00001
NM_001374385.1(ATP8B1):c.2097+2T>C rs387906381 0.00001
NM_001374385.1(ATP8B1):c.2932-3C>A rs1057523495 0.00001
NM_001374385.1(ATP8B1):c.863T>C (p.Leu288Ser) rs121909099 0.00001
NM_001388308.1(KIF12):c.1069C>T (p.Arg357Ter) rs781206726 0.00001
NM_001388308.1(KIF12):c.877C>T (p.Arg293Ter) rs1391374865 0.00001
NM_003742.4(ABCB11):c.2783_2787dup (p.Lys930fs) rs752919965 0.00001
NM_003742.4(ABCB11):c.3169C>T (p.Arg1057Ter) rs72549397 0.00001
NM_016356.5(DCDC2):c.890T>A (p.Leu297Ter) rs1050411259 0.00001
NM_018668.5(VPS33B):c.1509dup (p.Lys504fs) rs1209349503 0.00001
NM_152672.6(SLC51A):c.556C>T (p.Gln186Ter) rs1388285232 0.00001
JAG1, 1329, T-G, +2
NC_000018.10:g.(57688508_57691806)_(57803316_?)del
NG_029843.1:g.23704_55438del
NM_000214.3(JAG1):c.110T>C (p.Leu37Ser) rs121918352
NM_000214.3(JAG1):c.1205dup (p.Gln403fs) rs35615084
NM_000214.3(JAG1):c.1485_1486del (p.Cys496fs) rs876660981
NM_000214.3(JAG1):c.1656del (p.Glu553fs) rs1568795820
NM_000214.3(JAG1):c.2096_2100del (p.Gly699fs) rs886039393
NM_000214.3(JAG1):c.2639_2640del (p.Asp879_Cys880insTer) rs1568792286
NM_000214.3(JAG1):c.270dup (p.Pro91fs) rs863223667
NM_000214.3(JAG1):c.2916+1G>C rs1568791920
NM_000214.3(JAG1):c.3164_3167del (p.Val1055fs) rs1555827653
NM_000214.3(JAG1):c.550C>T (p.Arg184Cys) rs121918350
NM_000214.3(JAG1):c.551G>A (p.Arg184His) rs121918351
NM_000214.3(JAG1):c.693_694del (p.Arg231fs) rs876660978
NM_000443.4(ABCB4):c.1207T>C (p.Tyr403His) rs121918443
NM_000443.4(ABCB4):c.1328_1329delinsCAA (p.Gln443fs) rs387906528
NM_000443.4(ABCB4):c.1633C>G (p.Arg545Gly) rs397514620
NM_000443.4(ABCB4):c.1637C>A (p.Ala546Asp) rs121918441
NM_000443.4(ABCB4):c.1712del (p.Val571fs) rs387906527
NM_000443.4(ABCB4):c.2169dup (p.Leu724fs) rs387906529
NM_000443.4(ABCB4):c.394_400del (p.Tyr132fs) rs387906526
NM_001077268.2(ZFYVE19):c.379C>T (p.Gln127Ter) rs1890395046
NM_001080467.3(MYO5B):c.1860dup (p.Met621fs) rs1258766593
NM_001080467.3(MYO5B):c.2414+5G>T rs2144150424
NM_001080467.3(MYO5B):c.2470C>T (p.Arg824Cys) rs777038090
NM_001080467.3(MYO5B):c.3538-1G>A rs2144094082
NM_001080467.3(MYO5B):c.356A>G (p.Tyr119Cys) rs2144383876
NM_001080467.3(MYO5B):c.[1135C>T;2470C>T]
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.510del (p.Ser171fs) rs2149374086
NM_001371395.1(USP53):c.583del (p.Arg195fs) rs1578499691
NM_001371395.1(USP53):c.725C>T (p.Pro242Leu) rs1561279060
NM_001371395.1(USP53):c.951del (p.Phe317fs) rs2149389813
NM_001374385.1(ATP8B1):c.1367C>T (p.Thr456Met) rs121909104
NM_001374385.1(ATP8B1):c.1660G>A (p.Asp554Asn) rs121909101
NM_001374385.1(ATP8B1):c.2384_2392del (p.Gly795_Arg797del) rs2122653939
NM_001374385.1(ATP8B1):c.2599C>T (p.Arg867Cys) rs121909103
NM_001388308.1(KIF12):c.1024G>A (p.Val342Met) rs564811653
NM_003742.4(ABCB11):c.1295G>C (p.Arg432Thr) rs121908935
NM_003742.4(ABCB11):c.150+3A>C rs387906354
NM_003742.4(ABCB11):c.3767dup (p.Val1257fs) rs387907317
NM_003742.4(ABCB11):c.908+1del rs1553469602
NM_004817.4(TJP2):c.1361del (p.Ala454fs) rs587777520
NM_004817.4(TJP2):c.1992-2A>G rs587777521
NM_004817.4(TJP2):c.2438dup (p.Asn814fs) rs776869985
NM_004817.4(TJP2):c.2668-1G>T rs864321695
NM_004817.4(TJP2):c.766_769del (p.Ala256fs) rs587777518
NM_004817.4(TJP2):c.817del (p.Ala273fs) rs864321697
NM_004817.4(TJP2):c.885del (p.Ser296fs) rs587777519
NM_006742.3(PSKH1):c.361C>T (p.Arg121Trp)
NM_006742.3(PSKH1):c.376A>G (p.Ile126Val)
NM_006742.3(PSKH1):c.547C>T (p.Arg183Cys)
NM_016356.4(DCDC2):c.426_557del
NM_016356.5(DCDC2):c.123_124del (p.Ser42fs) rs757704417
NM_016356.5(DCDC2):c.51G>C (p.Lys17Asn) rs1042640142
NM_016356.5(DCDC2):c.529dup (p.Ile177fs) rs904944428
NM_016356.5(DCDC2):c.649A>T (p.Lys217Ter) rs730880299
NM_018668.5(VPS33B):c.1726T>C (p.Cys576Arg) rs1596348299
NM_021101.5(CLDN1):c.200_201del (p.Val66_Phe67insTer) rs864309516
NM_021101.5(CLDN1):c.358del (p.Val120fs) rs864309517
NM_021101.5(CLDN1):c.89G>A (p.Trp30Ter)
NM_024408.4(NOTCH2):c.1331G>A (p.Cys444Tyr) rs111033632
NM_024408.4(NOTCH2):c.5930-1G>A rs312262798

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