ClinVar Miner

List of variants in gene JAG1 studied for Alagille syndrome 1

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Total variants: 99
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HGVS dbSNP
JAG1, 1-BP INS, 684G
JAG1, 1329, T-G, +2
NC_000020.11:g.(?_10639478)_(10639975_?)del
NC_000020.11:g.10643851delG
NM_000214.2(JAG1):c.1110A>G (p.Thr370=) rs538048082
NM_000214.2(JAG1):c.1120+10A>G rs201711717
NM_000214.2(JAG1):c.1156G>A (p.Gly386Arg) rs863223650
NM_000214.2(JAG1):c.2096_2100delGAAAG (p.Gly699Aspfs) rs886039393
NM_000214.2(JAG1):c.2840delA (p.Lys947Serfs) rs1060501349
NM_000214.2(JAG1):c.3164_3167delTAAG (p.Val1055Glufs) rs1555827653
NM_000214.2(JAG1):c.388-11_388-8delTTGT rs750004416
NM_000214.3(JAG1):c.101A>C (p.Gln34Pro) rs1555830973
NM_000214.3(JAG1):c.105C>T (p.Phe35=) rs765442930
NM_000214.3(JAG1):c.110T>C (p.Leu37Ser) rs121918352
NM_000214.3(JAG1):c.1205dup (p.Gln403Thrfs) rs35615084
NM_000214.3(JAG1):c.133G>T (p.Val45Leu) rs183974372
NM_000214.3(JAG1):c.1353dup (p.Asn452Terfs) rs1060501347
NM_000214.3(JAG1):c.1365T>G (p.Leu455=) rs376346902
NM_000214.3(JAG1):c.1367G>A (p.Gly456Asp)
NM_000214.3(JAG1):c.1389C>T (p.Ser463=) rs147229008
NM_000214.3(JAG1):c.1439C>T (p.Ala480Val) rs149366993
NM_000214.3(JAG1):c.1446_1448delTCAinsC (p.His483Leufs)
NM_000214.3(JAG1):c.1485_1486del (p.Cys496Phefs) rs876660981
NM_000214.3(JAG1):c.1511A>G (p.Asn504Ser) rs527236046
NM_000214.3(JAG1):c.1656del (p.Glu553Argfs)
NM_000214.3(JAG1):c.1713dup (p.Cys572Leufs) rs1555828546
NM_000214.3(JAG1):c.1720+3A>G rs1555828541
NM_000214.3(JAG1):c.1794C>G (p.Val598=) rs200580391
NM_000214.3(JAG1):c.1914T>G (p.Cys638Trp)
NM_000214.3(JAG1):c.2073T>C (p.Cys691=) rs200648035
NM_000214.3(JAG1):c.2077T>C (p.Cys693Arg)
NM_000214.3(JAG1):c.2096_2100del (p.Gly699Aspfs)
NM_000214.3(JAG1):c.2113+1G>T
NM_000214.3(JAG1):c.2113+5G>A rs886044704
NM_000214.3(JAG1):c.2113+5G>C rs886044704
NM_000214.3(JAG1):c.2122_2125del (p.Gln708Valfs) rs727504412
NM_000214.3(JAG1):c.2173dup (p.Asp725Glyfs)
NM_000214.3(JAG1):c.2231G>A (p.Arg744Gln) rs147809756
NM_000214.3(JAG1):c.2300C>T (p.Thr767Met) rs140330283
NM_000214.3(JAG1):c.2342dup (p.Asn782Glufs) rs886039887
NM_000214.3(JAG1):c.2382C>T (p.Ser794=) rs56225585
NM_000214.3(JAG1):c.2393T>A (p.Val798Glu)
NM_000214.3(JAG1):c.2418C>A (p.Cys806Ter) rs533306015
NM_000214.3(JAG1):c.2429C>T (p.Pro810Leu) rs769531968
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.2502C>T (p.Thr834=) rs779052259
NM_000214.3(JAG1):c.2559C>T (p.Ala853=) rs201234393
NM_000214.3(JAG1):c.2639_2640del (p.Cys880Terfs)
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.270G>T (p.Gly90=) rs114048678
NM_000214.3(JAG1):c.2728G>A (p.Glu910Lys) rs368734792
NM_000214.3(JAG1):c.2766C>T (p.Asp922=) rs2229895
NM_000214.3(JAG1):c.2774_2788delGCTTCGTCCACCCCTinsCCAGGGCA (p.Cys925Serfs) rs1555827769
NM_000214.3(JAG1):c.2778C>T (p.Phe926=) rs147793030
NM_000214.3(JAG1):c.2801G>A (p.Gly934Asp)
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.2844C>A (p.Cys948Ter) rs1060501352
NM_000214.3(JAG1):c.2895dup (p.Asn966Terfs) rs878853752
NM_000214.3(JAG1):c.2916+1G>C
NM_000214.3(JAG1):c.294C>T (p.Ser98=) rs79338570
NM_000214.3(JAG1):c.2966dup (p.Leu989Phefs) rs1555827729
NM_000214.3(JAG1):c.3006C>A (p.Cys1002Ter) rs372984801
NM_000214.3(JAG1):c.3039T>C (p.His1013=) rs770077297
NM_000214.3(JAG1):c.3064C>T (p.Arg1022Trp) rs1057516205
NM_000214.3(JAG1):c.3281G>A (p.Arg1094Gln) rs139629694
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.350del (p.Arg117Profs) rs1555830929
NM_000214.3(JAG1):c.355C>T (p.Arg119Cys) rs1555830925
NM_000214.3(JAG1):c.388-4G>C rs567027490
NM_000214.3(JAG1):c.399G>A (p.Thr133=) rs763154396
NM_000214.3(JAG1):c.436G>A (p.Val146Ile) rs6040067
NM_000214.3(JAG1):c.439+10G>A rs201371037
NM_000214.3(JAG1):c.439C>T (p.Gln147Ter) rs886043606
NM_000214.3(JAG1):c.440-173C>T rs2273061
NM_000214.3(JAG1):c.521C>T (p.Thr174Met) rs144999773
NM_000214.3(JAG1):c.543T>A (p.Tyr181Ter) rs1060501351
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.601C>T (p.Arg201Cys) rs794727618
NM_000214.3(JAG1):c.634T>C (p.Cys212Arg) rs1555829660
NM_000214.3(JAG1):c.693_694del (p.Arg231Serfs)
NM_000214.3(JAG1):c.700T>A (p.Cys234Ser) rs1555829415
NM_000214.3(JAG1):c.71T>C (p.Leu24Pro) rs1135401949
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.821G>A (p.Gly274Asp) rs28939668
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.870C>T (p.Gly290=)
NM_000214.3(JAG1):c.878G>A (p.Cys293Tyr)
NM_000214.3(JAG1):c.886+5G>A rs1173329664
NM_000214.3(JAG1):c.924C>T (p.Asn308=) rs45575136
NM_000214.3(JAG1):c.932del (p.Thr311Ilefs) rs1555829037

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