ClinVar Miner

List of variants studied for Alagille syndrome 1 by Invitae

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ClinVar version:
Total variants: 209
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HGVS dbSNP
NC_000020.11:g.(?_10253609)_(10673550_?)del
NC_000020.11:g.(?_10639478)_(10639975_?)del
NC_000020.11:g.10640783_10640787del
NM_000214.3(JAG1):c.1013del (p.His338fs)
NM_000214.3(JAG1):c.101A>C (p.Gln34Pro) rs1555830973
NM_000214.3(JAG1):c.1021_1022CT[2] (p.Leu341_Ser342insTer)
NM_000214.3(JAG1):c.1057G>T (p.Glu353Ter) rs1600185499
NM_000214.3(JAG1):c.105C>T (p.Phe35=) rs765442930
NM_000214.3(JAG1):c.1084delinsGGCTTTGA (p.Cys362fs)
NM_000214.3(JAG1):c.1102G>A (p.Gly368Ser)
NM_000214.3(JAG1):c.1115C>T (p.Ser372Phe)
NM_000214.3(JAG1):c.1120+10A>G rs201711717
NM_000214.3(JAG1):c.1121_1122insTCCT (p.Ile375fs)
NM_000214.3(JAG1):c.1146C>T (p.Asn382=) rs200133928
NM_000214.3(JAG1):c.1156G>A (p.Gly386Arg) rs863223650
NM_000214.3(JAG1):c.116T>A (p.Ile39Asn)
NM_000214.3(JAG1):c.1182C>T (p.Asn394=) rs372951958
NM_000214.3(JAG1):c.1195G>A (p.Val399Met) rs181970528
NM_000214.3(JAG1):c.1205C>G (p.Pro402Arg)
NM_000214.3(JAG1):c.1205dup (p.Gln403fs) rs35615084
NM_000214.3(JAG1):c.1223C>T (p.Thr408Met)
NM_000214.3(JAG1):c.1232T>A (p.Leu411Ter)
NM_000214.3(JAG1):c.1309G>C (p.Asp437His)
NM_000214.3(JAG1):c.1318C>T (p.Pro440Ser) rs1187579730
NM_000214.3(JAG1):c.133G>T (p.Val45Leu) rs183974372
NM_000214.3(JAG1):c.1348+3G>A rs368718180
NM_000214.3(JAG1):c.1353dup (p.Asn452Ter) rs1060501347
NM_000214.3(JAG1):c.1365T>G (p.Leu455=) rs376346902
NM_000214.3(JAG1):c.1367G>A (p.Gly456Asp) rs534533867
NM_000214.3(JAG1):c.1375C>T (p.Gln459Ter) rs1289016419
NM_000214.3(JAG1):c.1389C>T (p.Ser463=) rs147229008
NM_000214.3(JAG1):c.1395+3A>G rs886044220
NM_000214.3(JAG1):c.139_159del (p.Gly47_Asn53del) rs754284753
NM_000214.3(JAG1):c.142G>T (p.Glu48Ter) rs1600196580
NM_000214.3(JAG1):c.1439C>T (p.Ala480Val) rs149366993
NM_000214.3(JAG1):c.1442G>A (p.Gly481Asp)
NM_000214.3(JAG1):c.1443C>T (p.Gly481=) rs879921003
NM_000214.3(JAG1):c.1511A>G (p.Asn504Ser) rs527236046
NM_000214.3(JAG1):c.1527C>A (p.Phe509Leu) rs770377023
NM_000214.3(JAG1):c.1563_1564del (p.Cys522fs)
NM_000214.3(JAG1):c.1578C>T (p.Ile526=) rs1801139
NM_000214.3(JAG1):c.1601del (p.Cys534fs)
NM_000214.3(JAG1):c.1627C>T (p.Arg543Cys) rs375017114
NM_000214.3(JAG1):c.1628G>A (p.Arg543His) rs544877858
NM_000214.3(JAG1):c.1655C>T (p.Pro552Leu) rs201785359
NM_000214.3(JAG1):c.1657G>T (p.Glu553Ter)
NM_000214.3(JAG1):c.1713dup (p.Cys572fs) rs1555828546
NM_000214.3(JAG1):c.1720+3A>G rs1555828541
NM_000214.3(JAG1):c.1720G>C (p.Val574Leu)
NM_000214.3(JAG1):c.1720G>T (p.Val574Leu)
NM_000214.3(JAG1):c.1755C>T (p.Asn585=) rs142808131
NM_000214.3(JAG1):c.1756G>A (p.Asp586Asn)
NM_000214.3(JAG1):c.1762C>T (p.Pro588Ser)
NM_000214.3(JAG1):c.1792G>A (p.Val598Ile)
NM_000214.3(JAG1):c.1794C>G (p.Val598=) rs200580391
NM_000214.3(JAG1):c.1826C>T (p.Ser609Leu) rs199505265
NM_000214.3(JAG1):c.1827G>C (p.Ser609=) rs779802470
NM_000214.3(JAG1):c.1835A>G (p.Lys612Arg)
NM_000214.3(JAG1):c.1856A>G (p.Lys619Arg)
NM_000214.3(JAG1):c.1856_1857del (p.Lys619fs) rs1600182812
NM_000214.3(JAG1):c.1875C>T (p.Tyr625=) rs533849006
NM_000214.3(JAG1):c.1914T>G (p.Cys638Trp) rs1261301855
NM_000214.3(JAG1):c.1920C>T (p.Asn640=) rs372121353
NM_000214.3(JAG1):c.1977G>A (p.Trp659Ter) rs1600182107
NM_000214.3(JAG1):c.19C>T (p.Arg7Cys) rs563232654
NM_000214.3(JAG1):c.2043G>A (p.Thr681=) rs151291264
NM_000214.3(JAG1):c.2073T>C (p.Cys691=) rs200648035
NM_000214.3(JAG1):c.2077T>C (p.Cys693Arg) rs1568794319
NM_000214.3(JAG1):c.2078_2079del (p.Asp692_Cys693insTer)
NM_000214.3(JAG1):c.2087G>A (p.Gly696Glu)
NM_000214.3(JAG1):c.2091_2095GAAAG[1] (p.Gly699fs) rs886039393
NM_000214.3(JAG1):c.2113+5G>A rs886044704
NM_000214.3(JAG1):c.2118_2121CAGT[1] (p.Gln708fs) rs727504412
NM_000214.3(JAG1):c.2172_2173dup (p.Asp725fs)
NM_000214.3(JAG1):c.2173dup (p.Asp725fs) rs1568794128
NM_000214.3(JAG1):c.2230C>T (p.Arg744Ter) rs863223655
NM_000214.3(JAG1):c.2231G>A (p.Arg744Gln) rs147809756
NM_000214.3(JAG1):c.2252A>G (p.Asn751Ser)
NM_000214.3(JAG1):c.225C>A (p.Phe75Leu) rs1600196460
NM_000214.3(JAG1):c.2287G>A (p.Gly763Ser)
NM_000214.3(JAG1):c.2300C>T (p.Thr767Met) rs140330283
NM_000214.3(JAG1):c.2301G>A (p.Thr767=) rs147634857
NM_000214.3(JAG1):c.2329C>T (p.Pro777Ser) rs202063628
NM_000214.3(JAG1):c.2350A>G (p.Asn784Asp) rs760470297
NM_000214.3(JAG1):c.2372+3_2372+6del
NM_000214.3(JAG1):c.2382C>T (p.Ser794=) rs56225585
NM_000214.3(JAG1):c.238A>T (p.Lys80Ter) rs1600196443
NM_000214.3(JAG1):c.2393T>A (p.Val798Glu) rs1308346607
NM_000214.3(JAG1):c.2418C>A (p.Cys806Ter) rs533306015
NM_000214.3(JAG1):c.2445C>T (p.Pro815=) rs777122869
NM_000214.3(JAG1):c.2473C>T (p.Gln825Ter) rs1437309558
NM_000214.3(JAG1):c.2503_2504TG[2] (p.Val836fs) rs1600179892
NM_000214.3(JAG1):c.2532T>A (p.Cys844Ter) rs1600179855
NM_000214.3(JAG1):c.2559C>T (p.Ala853=) rs201234393
NM_000214.3(JAG1):c.2590A>G (p.Ile864Val) rs142742183
NM_000214.3(JAG1):c.2609T>C (p.Ile870Thr)
NM_000214.3(JAG1):c.2615A>G (p.Asp872Gly)
NM_000214.3(JAG1):c.2629dup (p.Asp877fs)
NM_000214.3(JAG1):c.2666G>A (p.Arg889Gln) rs149419694
NM_000214.3(JAG1):c.2682+8A>G rs560065330
NM_000214.3(JAG1):c.2688G>A (p.Trp896Ter) rs1060501350
NM_000214.3(JAG1):c.2690dup (p.Cys897fs)
NM_000214.3(JAG1):c.2705G>C (p.Cys902Ser) rs876661122
NM_000214.3(JAG1):c.270G>T (p.Gly90=) rs114048678
NM_000214.3(JAG1):c.2713C>T (p.His905Tyr)
NM_000214.3(JAG1):c.2728G>A (p.Glu910Lys) rs368734792
NM_000214.3(JAG1):c.2739C>T (p.Ser913=) rs766479402
NM_000214.3(JAG1):c.2766C>T (p.Asp922=) rs2229895
NM_000214.3(JAG1):c.2767G>A (p.Asp923Asn)
NM_000214.3(JAG1):c.2774_2788delinsCCAGGGCA (p.Cys925fs) rs1555827769
NM_000214.3(JAG1):c.2778C>T (p.Phe926=) rs147793030
NM_000214.3(JAG1):c.2781C>T (p.Val927=) rs746664646
NM_000214.3(JAG1):c.2792C>T (p.Thr931Ile)
NM_000214.3(JAG1):c.2801G>A (p.Gly934Asp) rs1568792060
NM_000214.3(JAG1):c.2810G>A (p.Arg937Gln) rs145895196
NM_000214.3(JAG1):c.2827C>T (p.Pro943Ser) rs760332763
NM_000214.3(JAG1):c.2840del (p.Lys947fs) rs1060501349
NM_000214.3(JAG1):c.2844C>A (p.Cys948Ter) rs1060501352
NM_000214.3(JAG1):c.2895dup (p.Asn966Ter) rs878853752
NM_000214.3(JAG1):c.2910G>A (p.Met970Ile)
NM_000214.3(JAG1):c.2928G>A (p.Thr976=)
NM_000214.3(JAG1):c.292T>C (p.Ser98Pro)
NM_000214.3(JAG1):c.294C>T (p.Ser98=) rs79338570
NM_000214.3(JAG1):c.2966dup (p.Leu989fs) rs1555827729
NM_000214.3(JAG1):c.2990C>G (p.Ser997Ter)
NM_000214.3(JAG1):c.3006C>A (p.Cys1002Ter) rs372984801
NM_000214.3(JAG1):c.3006C>T (p.Cys1002=) rs372984801
NM_000214.3(JAG1):c.3007G>A (p.Glu1003Lys)
NM_000214.3(JAG1):c.3008_3012dup (p.Pro1006fs) rs1600178730
NM_000214.3(JAG1):c.3032A>G (p.Glu1011Gly)
NM_000214.3(JAG1):c.3039T>C (p.His1013=) rs770077297
NM_000214.3(JAG1):c.3065G>A (p.Arg1022Gln)
NM_000214.3(JAG1):c.3164_3167del (p.Val1055fs) rs1555827653
NM_000214.3(JAG1):c.3233C>G (p.Thr1078Ser)
NM_000214.3(JAG1):c.3260C>T (p.Thr1087Met)
NM_000214.3(JAG1):c.3281G>A (p.Arg1094Gln) rs139629694
NM_000214.3(JAG1):c.3287G>A (p.Arg1096Gln)
NM_000214.3(JAG1):c.3289C>T (p.Arg1097Trp) rs768554175
NM_000214.3(JAG1):c.3296C>T (p.Pro1099Leu) rs200949270
NM_000214.3(JAG1):c.3329A>C (p.Asn1110Thr) rs150811951
NM_000214.3(JAG1):c.3343G>A (p.Val1115Met) rs148373907
NM_000214.3(JAG1):c.3346C>T (p.Arg1116Trp) rs377723772
NM_000214.3(JAG1):c.3385C>A (p.His1129Asn)
NM_000214.3(JAG1):c.3391G>A (p.Ala1131Thr) rs769242977
NM_000214.3(JAG1):c.3467T>C (p.Val1156Ala) rs143966918
NM_000214.3(JAG1):c.347A>T (p.Asp116Val)
NM_000214.3(JAG1):c.350del (p.Arg117fs) rs1555830929
NM_000214.3(JAG1):c.3523G>A (p.Ala1175Thr)
NM_000214.3(JAG1):c.3524C>T (p.Ala1175Val) rs918046091
NM_000214.3(JAG1):c.3555C>T (p.Pro1185=) rs142017684
NM_000214.3(JAG1):c.355C>T (p.Arg119Cys) rs1555830925
NM_000214.3(JAG1):c.3566C>T (p.Thr1189Met)
NM_000214.3(JAG1):c.3583A>G (p.Asn1195Asp) rs397515876
NM_000214.3(JAG1):c.3589A>G (p.Thr1197Ala)
NM_000214.3(JAG1):c.3638G>A (p.Arg1213Gln) rs138007561
NM_000214.3(JAG1):c.3651C>T (p.Ile1217=) rs542831744
NM_000214.3(JAG1):c.379G>A (p.Ala127Thr)
NM_000214.3(JAG1):c.388-19TTGT[2] rs750004416
NM_000214.3(JAG1):c.388-2A>C
NM_000214.3(JAG1):c.388-4G>C rs567027490
NM_000214.3(JAG1):c.390dup (p.Ser131fs) rs886044111
NM_000214.3(JAG1):c.399G>A (p.Thr133=) rs763154396
NM_000214.3(JAG1):c.3G>A (p.Met1Ile) rs1555831014
NM_000214.3(JAG1):c.408_409dup (p.Glu137fs)
NM_000214.3(JAG1):c.436G>A (p.Val146Ile) rs6040067
NM_000214.3(JAG1):c.439+10G>A rs201371037
NM_000214.3(JAG1):c.439+6T>A
NM_000214.3(JAG1):c.439C>T (p.Gln147Ter) rs886043606
NM_000214.3(JAG1):c.440-173C>T rs2273061
NM_000214.3(JAG1):c.442C>T (p.Pro148Ser)
NM_000214.3(JAG1):c.487C>T (p.Pro163Ser)
NM_000214.3(JAG1):c.48C>A (p.Leu16=) rs901489977
NM_000214.3(JAG1):c.493C>G (p.Arg165Gly)
NM_000214.3(JAG1):c.499T>C (p.Trp167Arg)
NM_000214.3(JAG1):c.521C>T (p.Thr174Met) rs144999773
NM_000214.3(JAG1):c.526G>A (p.Val176Ile) rs199674138
NM_000214.3(JAG1):c.532del (p.His178fs)
NM_000214.3(JAG1):c.543T>A (p.Tyr181Ter) rs1060501351
NM_000214.3(JAG1):c.551G>A (p.Arg184His) rs121918351
NM_000214.3(JAG1):c.554T>A (p.Val185Glu)
NM_000214.3(JAG1):c.558_567del (p.Cys187fs)
NM_000214.3(JAG1):c.578del (p.Gly193fs)
NM_000214.3(JAG1):c.601C>T (p.Arg201Cys) rs794727618
NM_000214.3(JAG1):c.634T>C (p.Cys212Arg) rs1555829660
NM_000214.3(JAG1):c.67G>T (p.Ala23Ser)
NM_000214.3(JAG1):c.694+3_694+4del
NM_000214.3(JAG1):c.694+4T>C
NM_000214.3(JAG1):c.700T>A (p.Cys234Ser) rs1555829415
NM_000214.3(JAG1):c.703C>T (p.Arg235Ter) rs876660980
NM_000214.3(JAG1):c.708A>G (p.Gln236=)
NM_000214.3(JAG1):c.722A>G (p.Lys241Arg) rs1405610551
NM_000214.3(JAG1):c.81+9C>T rs1235592073
NM_000214.3(JAG1):c.814G>A (p.Val272Ile) rs148990028
NM_000214.3(JAG1):c.82-1G>C
NM_000214.3(JAG1):c.821G>A (p.Gly274Asp) rs28939668
NM_000214.3(JAG1):c.826T>C (p.Cys276Arg)
NM_000214.3(JAG1):c.841C>T (p.Gln281Ter) rs886043603
NM_000214.3(JAG1):c.851G>T (p.Cys284Phe) rs1555829067
NM_000214.3(JAG1):c.868G>A (p.Gly290Ser)
NM_000214.3(JAG1):c.870C>T (p.Gly290=) rs529032883
NM_000214.3(JAG1):c.878G>A (p.Cys293Tyr) rs1568798248
NM_000214.3(JAG1):c.886+5G>A rs1173329664
NM_000214.3(JAG1):c.894T>C (p.Asn298=) rs149897344
NM_000214.3(JAG1):c.909T>C (p.His303=) rs139574260
NM_000214.3(JAG1):c.910C>T (p.Gln304Ter) rs863223649
NM_000214.3(JAG1):c.924C>T (p.Asn308=) rs45575136
NM_000214.3(JAG1):c.925G>C (p.Gly309Arg) rs750195672
NM_000214.3(JAG1):c.932del (p.Thr311fs) rs1555829037
NM_000214.3(JAG1):c.962A>G (p.Gln321Arg)

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