ClinVar Miner

List of variants studied for cholangitis

Included ClinVar conditions (7):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 249
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_016356.5(DCDC2):c.426-13C>T rs807703 0.98337
NM_021101.5(CLDN1):c.369T>C (p.Gly123=) rs9869263 0.83180
NM_016356.5(DCDC2):c.*3C>G rs9358755 0.72045
NM_016356.5(DCDC2):c.661A>G (p.Ser221Gly) rs2274305 0.51051
NM_016356.5(DCDC2):c.1368A>T (p.Lys456Asn) rs9460973 0.15425
NM_016356.5(DCDC2):c.1017C>T (p.Val339=) rs9467075 0.13584
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_000443.4(ABCB4):c.523A>G (p.Thr175Ala) rs58238559 0.00910
NM_000443.4(ABCB4):c.1769G>A (p.Arg590Gln) rs45575636 0.00625
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_016356.5(DCDC2):c.1208G>A (p.Arg403His) rs139858268 0.00194
NM_016356.5(DCDC2):c.715T>G (p.Ser239Ala) rs144695853 0.00183
NM_000443.4(ABCB4):c.101C>T (p.Thr34Met) rs142794414 0.00123
NM_000443.4(ABCB4):c.217C>G (p.Leu73Val) rs8187788 0.00074
NM_016356.5(DCDC2):c.402G>A (p.Pro134=) rs142088541 0.00064
NM_016356.5(DCDC2):c.1423G>A (p.Val475Met) rs145154884 0.00062
NM_016356.5(DCDC2):c.817C>T (p.Pro273Ser) rs146787541 0.00061
NM_000443.4(ABCB4):c.3296A>G (p.Glu1099Gly) rs139042803 0.00044
NM_016356.5(DCDC2):c.478A>C (p.Arg160=) rs201204772 0.00030
NM_016356.5(DCDC2):c.888A>G (p.Lys296=) rs41271773 0.00029
NM_016356.5(DCDC2):c.349-15C>T rs200146922 0.00025
NM_016356.5(DCDC2):c.222C>A (p.Ile74=) rs138670560 0.00022
NM_000443.4(ABCB4):c.2784-12T>C rs201498350 0.00019
NM_000443.4(ABCB4):c.959C>T (p.Ser320Phe) rs72552778 0.00018
NM_016356.5(DCDC2):c.1066G>A (p.Ala356Thr) rs183480366 0.00016
NM_016356.5(DCDC2):c.923-12T>G rs200973005 0.00015
NM_016356.5(DCDC2):c.349-9C>G rs765613994 0.00014
NM_016356.5(DCDC2):c.750T>G (p.Ser250=) rs372157851 0.00011
NM_016356.5(DCDC2):c.785C>T (p.Thr262Ile) rs200534758 0.00011
NM_016356.5(DCDC2):c.1422C>T (p.Ala474=) rs146868469 0.00010
NM_016356.5(DCDC2):c.770G>A (p.Arg257His) rs200233521 0.00010
NM_000443.4(ABCB4):c.1529A>G (p.Asn510Ser) rs375315619 0.00009
NM_016356.5(DCDC2):c.68G>T (p.Arg23Leu) rs745333409 0.00009
NM_016356.5(DCDC2):c.705-4A>C rs774040286 0.00007
NM_016356.5(DCDC2):c.954G>A (p.Arg318=) rs140084657 0.00007
NM_000443.4(ABCB4):c.140G>A (p.Arg47Gln) rs372685632 0.00006
NM_016356.5(DCDC2):c.355C>T (p.Pro119Ser) rs1056029060 0.00006
NM_016356.5(DCDC2):c.349G>A (p.Val117Ile) rs781510673 0.00005
NM_016356.5(DCDC2):c.445C>T (p.Leu149Phe) rs200595563 0.00005
NM_016356.5(DCDC2):c.1199G>A (p.Arg400His) rs771591530 0.00004
NM_016356.5(DCDC2):c.1203T>A (p.Pro401=) rs143452599 0.00004
NM_016356.5(DCDC2):c.1237G>A (p.Gly413Ser) rs771499861 0.00004
NM_016356.5(DCDC2):c.1344A>G (p.Gln448=) rs368603558 0.00004
NM_000443.4(ABCB4):c.1778C>T (p.Thr593Met) rs571555115 0.00003
NM_000443.4(ABCB4):c.3481C>T (p.Pro1161Ser) rs121918442 0.00003
NM_016356.5(DCDC2):c.1100C>T (p.Ser367Leu) rs757670255 0.00003
NM_016356.5(DCDC2):c.1359A>G (p.Pro453=) rs374448795 0.00003
NM_016356.5(DCDC2):c.349-2A>G rs760040426 0.00003
NM_016356.5(DCDC2):c.769C>T (p.Arg257Cys) rs909339162 0.00003
NM_000443.4(ABCB4):c.2211+1G>A rs794727183 0.00002
NM_000443.4(ABCB4):c.2869C>T (p.Arg957Ter) rs121918440 0.00002
NM_016356.5(DCDC2):c.1071C>A (p.Asn357Lys) rs746347880 0.00002
NM_016356.5(DCDC2):c.1099T>A (p.Ser367Thr) rs538198742 0.00002
NM_016356.5(DCDC2):c.1154C>T (p.Pro385Leu) rs773020868 0.00002
NM_016356.5(DCDC2):c.456A>G (p.Pro152=) rs764454438 0.00002
NM_016356.5(DCDC2):c.685A>G (p.Thr229Ala) rs1043649931 0.00002
NM_016356.5(DCDC2):c.942del (p.Gly315fs) rs1554144869 0.00002
NM_021101.5(CLDN1):c.242G>A (p.Arg81His) rs200968478 0.00002
NM_000443.4(ABCB4):c.1646G>A (p.Arg549His) rs761238221 0.00001
NM_000443.4(ABCB4):c.1744C>T (p.Arg582Trp) rs1444056772 0.00001
NM_000443.4(ABCB4):c.1745G>A (p.Arg582Gln) rs760153272 0.00001
NM_000443.4(ABCB4):c.2177C>T (p.Pro726Leu) rs141677867 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_000443.4(ABCB4):c.475C>T (p.Arg159Ter) rs377160065 0.00001
NM_016356.5(DCDC2):c.1024A>T (p.Arg342Trp) rs753636454 0.00001
NM_016356.5(DCDC2):c.1223C>T (p.Thr408Ile) rs1367144327 0.00001
NM_016356.5(DCDC2):c.1241A>C (p.Glu414Ala) rs773832570 0.00001
NM_016356.5(DCDC2):c.1364T>C (p.Val455Ala) rs763350514 0.00001
NM_016356.5(DCDC2):c.151G>C (p.Val51Leu) rs554313786 0.00001
NM_016356.5(DCDC2):c.278C>A (p.Ala93Asp) rs776415168 0.00001
NM_016356.5(DCDC2):c.401C>T (p.Pro134Leu) rs779076957 0.00001
NM_016356.5(DCDC2):c.45C>A (p.Val15=) rs148029760 0.00001
NM_016356.5(DCDC2):c.471T>G (p.Leu157=) rs374456364 0.00001
NM_016356.5(DCDC2):c.57G>T (p.Val19=) rs577487337 0.00001
NM_016356.5(DCDC2):c.890T>A (p.Leu297Ter) rs1050411259 0.00001
NM_016356.5(DCDC2):c.923-18G>A rs768651764 0.00001
NM_016356.5(DCDC2):c.929G>C (p.Gly310Ala) rs746447569 0.00001
NM_016356.5(DCDC2):c.93G>A (p.Gly31=) rs938050921 0.00001
NM_016356.5(DCDC2):c.999T>G (p.Thr333=) rs1561889345 0.00001
CLDN1, TRP30TER
GRCh37/hg19 3q28(chr3:190039387-190040504)
NC_000006.11:g.(?_24174958)_(24178880_?)dup
NC_000006.11:g.(?_24291140)_(24291326_?)dup
NM_000443.4(ABCB4):c.-18G>T rs886062461
NM_000443.4(ABCB4):c.1199A>C (p.His400Pro)
NM_000443.4(ABCB4):c.1240G>C (p.Gly414Arg)
NM_000443.4(ABCB4):c.1318C>T (p.Gln440Ter)
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.2380G>C (p.Ala794Pro)
NM_000443.4(ABCB4):c.2422A>G (p.Asn808Asp) rs1809166231
NM_000443.4(ABCB4):c.2682+1G>A rs1012575668
NM_000443.4(ABCB4):c.2932T>C (p.Ser978Pro) rs1051861187
NM_000443.4(ABCB4):c.3136C>T (p.Arg1046Ter) rs759202962
NM_000443.4(ABCB4):c.3139_3141delinsCC (p.Ala1047fs)
NM_000443.4(ABCB4):c.3152T>C (p.Val1051Ala)
NM_000443.4(ABCB4):c.3170T>C (p.Leu1057Pro)
NM_000443.4(ABCB4):c.3221G>A (p.Gly1074Glu)
NM_000443.4(ABCB4):c.3295G>A (p.Glu1099Lys)
NM_000443.4(ABCB4):c.3593T>A (p.Leu1198Ter)
NM_000443.4(ABCB4):c.364G>C (p.Gly122Arg)
NM_000443.4(ABCB4):c.537-6T>G
NM_000443.4(ABCB4):c.716C>G (p.Ser239Trp)
NM_000443.4(ABCB4):c.808G>A (p.Gly270Arg) rs551234479
NM_000443.4(ABCB4):c.834-1G>A rs752563752
NM_000443.4(ABCB4):c.879del (p.Ala294fs) rs1326932143
NM_000443.4(ABCB4):c.88_91del (p.Lys30fs)
NM_000443.4(ABCB4):c.984T>G (p.Tyr328Ter) rs931093296
NM_016356.4(DCDC2):c.426_557del
NM_016356.5(DCDC2):c.1009G>C (p.Val337Leu)
NM_016356.5(DCDC2):c.100G>A (p.Val34Ile)
NM_016356.5(DCDC2):c.1013C>T (p.Pro338Leu)
NM_016356.5(DCDC2):c.1018G>A (p.Asp340Asn) rs1389720008
NM_016356.5(DCDC2):c.1023+11T>C
NM_016356.5(DCDC2):c.1023+14C>A
NM_016356.5(DCDC2):c.1024-16C>T
NM_016356.5(DCDC2):c.1028C>T (p.Pro343Leu)
NM_016356.5(DCDC2):c.1037T>C (p.Ile346Thr)
NM_016356.5(DCDC2):c.1056T>G (p.Asp352Glu)
NM_016356.5(DCDC2):c.1076A>T (p.Asp359Val) rs1393437679
NM_016356.5(DCDC2):c.1109A>G (p.Asn370Ser)
NM_016356.5(DCDC2):c.1137G>T (p.Arg379Ser)
NM_016356.5(DCDC2):c.1151C>G (p.Ala384Gly)
NM_016356.5(DCDC2):c.1154C>G (p.Pro385Arg)
NM_016356.5(DCDC2):c.115AAG[1] (p.Lys40del)
NM_016356.5(DCDC2):c.1164C>T (p.Val388=) rs767129413
NM_016356.5(DCDC2):c.1165G>A (p.Glu389Lys)
NM_016356.5(DCDC2):c.1198C>A (p.Arg400Ser)
NM_016356.5(DCDC2):c.11G>A (p.Ser4Asn)
NM_016356.5(DCDC2):c.1207C>T (p.Arg403Cys)
NM_016356.5(DCDC2):c.1213A>G (p.Asn405Asp)
NM_016356.5(DCDC2):c.1219G>C (p.Gly407Arg) rs756047736
NM_016356.5(DCDC2):c.1220G>T (p.Gly407Val)
NM_016356.5(DCDC2):c.1221C>G (p.Gly407=)
NM_016356.5(DCDC2):c.1224C>A (p.Thr408=) rs763861048
NM_016356.5(DCDC2):c.1224C>T (p.Thr408=)
NM_016356.5(DCDC2):c.1227T>A (p.Asp409Glu)
NM_016356.5(DCDC2):c.123_124del (p.Ser42fs) rs757704417
NM_016356.5(DCDC2):c.125C>T (p.Ser42Phe)
NM_016356.5(DCDC2):c.1272A>G (p.Gln424=)
NM_016356.5(DCDC2):c.1275G>T (p.Leu425=)
NM_016356.5(DCDC2):c.1283A>T (p.Asp428Val) rs375119774
NM_016356.5(DCDC2):c.1313G>T (p.Ser438Ile)
NM_016356.5(DCDC2):c.1318C>T (p.Gln440Ter)
NM_016356.5(DCDC2):c.1326+6T>C
NM_016356.5(DCDC2):c.1326+9A>G
NM_016356.5(DCDC2):c.1327-15T>A
NM_016356.5(DCDC2):c.1406A>C (p.Asn469Thr)
NM_016356.5(DCDC2):c.1427C>T (p.Ala476Val)
NM_016356.5(DCDC2):c.144G>C (p.Leu48=)
NM_016356.5(DCDC2):c.160G>C (p.Gly54Arg)
NM_016356.5(DCDC2):c.209C>A (p.Thr70Asn)
NM_016356.5(DCDC2):c.23C>T (p.Ser8Phe)
NM_016356.5(DCDC2):c.26G>C (p.Ser9Thr)
NM_016356.5(DCDC2):c.289_292del (p.Leu97fs)
NM_016356.5(DCDC2):c.293+20C>T
NM_016356.5(DCDC2):c.294-11T>A
NM_016356.5(DCDC2):c.294-21GTTT[2] rs374485384
NM_016356.5(DCDC2):c.294-2A>G rs1554121105
NM_016356.5(DCDC2):c.326C>T (p.Pro109Leu)
NM_016356.5(DCDC2):c.349-16dup rs746353912
NM_016356.5(DCDC2):c.349-8T>G
NM_016356.5(DCDC2):c.366T>C (p.His122=)
NM_016356.5(DCDC2):c.383C>G (p.Ser128Ter) rs904520404
NM_016356.5(DCDC2):c.388C>T (p.Arg130Cys)
NM_016356.5(DCDC2):c.389G>A (p.Arg130His)
NM_016356.5(DCDC2):c.38dup (p.Pro14fs)
NM_016356.5(DCDC2):c.425+11A>T
NM_016356.5(DCDC2):c.426-2A>G rs2113838226
NM_016356.5(DCDC2):c.463C>T (p.Arg155Cys)
NM_016356.5(DCDC2):c.467T>A (p.Leu156His)
NM_016356.5(DCDC2):c.519C>G (p.Val173=)
NM_016356.5(DCDC2):c.51G>C (p.Lys17Asn) rs1042640142
NM_016356.5(DCDC2):c.529dup (p.Ile177fs) rs904944428
NM_016356.5(DCDC2):c.536_537del (p.Leu179fs) rs2113838075
NM_016356.5(DCDC2):c.543C>A (p.Ser181Arg) rs141060456
NM_016356.5(DCDC2):c.543C>T (p.Ser181=) rs141060456
NM_016356.5(DCDC2):c.549dup (p.Val184fs) rs1581640646
NM_016356.5(DCDC2):c.54C>A (p.Ser18Arg)
NM_016356.5(DCDC2):c.555C>T (p.His185=)
NM_016356.5(DCDC2):c.557+14A>G
NM_016356.5(DCDC2):c.558-4A>G
NM_016356.5(DCDC2):c.558-5G>T
NM_016356.5(DCDC2):c.558-6C>T
NM_016356.5(DCDC2):c.604G>T (p.Glu202Ter)
NM_016356.5(DCDC2):c.606G>T (p.Glu202Asp)
NM_016356.5(DCDC2):c.622G>A (p.Val208Met)
NM_016356.5(DCDC2):c.623T>C (p.Val208Ala)
NM_016356.5(DCDC2):c.649A>T (p.Lys217Ter) rs730880299
NM_016356.5(DCDC2):c.650A>T (p.Lys217Ile)
NM_016356.5(DCDC2):c.655C>T (p.Pro219Ser)
NM_016356.5(DCDC2):c.656C>T (p.Pro219Leu)
NM_016356.5(DCDC2):c.660_661inv (p.Ser221Gly)
NM_016356.5(DCDC2):c.662G>A (p.Ser221Asn)
NM_016356.5(DCDC2):c.686C>G (p.Thr229Arg)
NM_016356.5(DCDC2):c.686C>T (p.Thr229Met)
NM_016356.5(DCDC2):c.690G>A (p.Met230Ile)
NM_016356.5(DCDC2):c.696G>A (p.Arg232=) rs758802517
NM_016356.5(DCDC2):c.696G>T (p.Arg232Ser)
NM_016356.5(DCDC2):c.705-10G>T rs1554116524
NM_016356.5(DCDC2):c.705-11del rs758628136
NM_016356.5(DCDC2):c.705-2A>G
NM_016356.5(DCDC2):c.71A>C (p.Asn24Thr) rs2127257711
NM_016356.5(DCDC2):c.728C>G (p.Pro243Arg) rs948355469
NM_016356.5(DCDC2):c.730A>G (p.Ile244Val)
NM_016356.5(DCDC2):c.732T>C (p.Ile244=)
NM_016356.5(DCDC2):c.755G>C (p.Gly252Ala)
NM_016356.5(DCDC2):c.759+17T>G
NM_016356.5(DCDC2):c.760-16dup
NM_016356.5(DCDC2):c.760-7C>T
NM_016356.5(DCDC2):c.766G>A (p.Asp256Asn)
NM_016356.5(DCDC2):c.76G>C (p.Asp26His)
NM_016356.5(DCDC2):c.780G>T (p.Lys260Asn)
NM_016356.5(DCDC2):c.802A>G (p.Asn268Asp) rs1438044739
NM_016356.5(DCDC2):c.803A>G (p.Asn268Ser)
NM_016356.5(DCDC2):c.836A>T (p.Lys279Ile)
NM_016356.5(DCDC2):c.840AGA[1] (p.Glu281del) rs760375899
NM_016356.5(DCDC2):c.847G>A (p.Val283Met)
NM_016356.5(DCDC2):c.85T>C (p.Tyr29His) rs748676214
NM_016356.5(DCDC2):c.866C>T (p.Thr289Met)
NM_016356.5(DCDC2):c.886A>G (p.Lys296Glu)
NM_016356.5(DCDC2):c.88G>A (p.Ala30Thr)
NM_016356.5(DCDC2):c.899C>T (p.Ser300Leu)
NM_016356.5(DCDC2):c.8G>T (p.Gly3Val)
NM_016356.5(DCDC2):c.908C>G (p.Thr303Ser)
NM_016356.5(DCDC2):c.918T>C (p.Asn306=) rs1239033952
NM_016356.5(DCDC2):c.921T>C (p.Ser307=)
NM_016356.5(DCDC2):c.922+19T>C
NM_016356.5(DCDC2):c.923-10G>T
NM_016356.5(DCDC2):c.923-12_923-9del
NM_016356.5(DCDC2):c.923-283_1023+141del rs1761673797
NM_016356.5(DCDC2):c.923-8C>T
NM_016356.5(DCDC2):c.949G>C (p.Glu317Gln)
NM_016356.5(DCDC2):c.965G>C (p.Arg322Pro) rs77150627
NM_016356.5(DCDC2):c.967G>A (p.Gly323Arg)
NM_016356.5(DCDC2):c.967G>C (p.Gly323Arg) rs146587418
NM_016356.5(DCDC2):c.970G>T (p.Ala324Ser) rs1416369642
NM_016356.5(DCDC2):c.970dup (p.Ala324fs) rs774115675
NM_016356.5(DCDC2):c.992A>T (p.Glu331Val)
NM_016356.5(DCDC2):c.995A>G (p.Asp332Gly)
NM_016356.5(DCDC2):c.99C>T (p.Arg33=)
NM_021101.5(CLDN1):c.141C>A (p.Tyr47Ter) rs773766654
NM_021101.5(CLDN1):c.19C>T (p.Gln7Ter)
NM_021101.5(CLDN1):c.200_201del (p.Val66_Phe67insTer) rs864309516
NM_021101.5(CLDN1):c.358del (p.Val120fs) rs864309517

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