ClinVar Miner

List of variants in gene JAG1 reported as likely benign

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Gene type:
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Total variants: 119
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HGVS dbSNP
NM_000214.3(JAG1):c.*1084G>C rs148175963
NM_000214.3(JAG1):c.*1493A>G rs78471165
NM_000214.3(JAG1):c.*1511dup rs571057258
NM_000214.3(JAG1):c.*21C>T rs554327524
NM_000214.3(JAG1):c.*2A>G rs879254256
NM_000214.3(JAG1):c.*563_*565del rs139536676
NM_000214.3(JAG1):c.*619C>T rs146144464
NM_000214.3(JAG1):c.*756A>G rs45534738
NM_000214.3(JAG1):c.-299_-297AAG[1] rs147400796
NM_000214.3(JAG1):c.-42G>T rs374222937
NM_000214.3(JAG1):c.-514G>C rs533596136
NM_000214.3(JAG1):c.-528C>A rs191409481
NM_000214.3(JAG1):c.-75_-61dup rs1555831023
NM_000214.3(JAG1):c.1006+7G>T rs762379208
NM_000214.3(JAG1):c.1043G>A (p.Arg348Lys) rs200227737
NM_000214.3(JAG1):c.105C>T (p.Phe35=) rs765442930
NM_000214.3(JAG1):c.1062C>T (p.Thr354=) rs201234509
NM_000214.3(JAG1):c.1110A>G (p.Thr370=) rs538048082
NM_000214.3(JAG1):c.1117A>G (p.Thr373Ala) rs1212026437
NM_000214.3(JAG1):c.1120+10A>G rs201711717
NM_000214.3(JAG1):c.1146C>T (p.Asn382=) rs200133928
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.1224G>A (p.Thr408=) rs771839716
NM_000214.3(JAG1):c.1234+21_1234+22del rs778949148
NM_000214.3(JAG1):c.133G>T (p.Val45Leu) rs183974372
NM_000214.3(JAG1):c.1344C>T (p.Asp448=) rs754081766
NM_000214.3(JAG1):c.1348+3G>A rs368718180
NM_000214.3(JAG1):c.1349-11T>G rs80338240
NM_000214.3(JAG1):c.1349-16C>G rs1057523387
NM_000214.3(JAG1):c.1365T>G (p.Leu455=) rs376346902
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.1570-28C>G rs144983462
NM_000214.3(JAG1):c.1578C>T (p.Ile526=) rs1801139
NM_000214.3(JAG1):c.1628G>A (p.Arg543His) rs544877858
NM_000214.3(JAG1):c.1635T>C (p.Ser545=) rs730152
NM_000214.3(JAG1):c.1655C>T (p.Pro552Leu) rs201785359
NM_000214.3(JAG1):c.1720+5C>T rs757230587
NM_000214.3(JAG1):c.1755C>T (p.Asn585=) rs142808131
NM_000214.3(JAG1):c.1791C>T (p.Asn597=)
NM_000214.3(JAG1):c.1794C>G (p.Val598=) rs200580391
NM_000214.3(JAG1):c.1806C>T (p.His602=) rs764290237
NM_000214.3(JAG1):c.1827G>C (p.Ser609=) rs779802470
NM_000214.3(JAG1):c.1866G>A (p.Thr622=) rs140624746
NM_000214.3(JAG1):c.1875C>T (p.Tyr625=) rs533849006
NM_000214.3(JAG1):c.1920C>T (p.Asn640=) rs372121353
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.2101A>C (p.Thr701Pro) rs79176844
NM_000214.3(JAG1):c.2227+9A>G rs763616526
NM_000214.3(JAG1):c.222C>T (p.Tyr74=) rs1600196465
NM_000214.3(JAG1):c.2231G>A (p.Arg744Gln) rs147809756
NM_000214.3(JAG1):c.2286C>T (p.Asn762=) rs144190443
NM_000214.3(JAG1):c.2298T>C (p.Phe766=) rs771544217
NM_000214.3(JAG1):c.2301G>A (p.Thr767=) rs147634857
NM_000214.3(JAG1):c.2304C>T (p.Cys768=) rs755427292
NM_000214.3(JAG1):c.2329C>T (p.Pro777Ser) rs202063628
NM_000214.3(JAG1):c.2344+15C>G rs200139177
NM_000214.3(JAG1):c.2445C>T (p.Pro815=) rs777122869
NM_000214.3(JAG1):c.2502C>T (p.Thr834=) rs779052259
NM_000214.3(JAG1):c.2517C>T (p.Ile839=) rs560603550
NM_000214.3(JAG1):c.2573-16C>T rs112196689
NM_000214.3(JAG1):c.2612C>G (p.Pro871Arg) rs35761929
NM_000214.3(JAG1):c.267G>A (p.Gly89=) rs1051415
NM_000214.3(JAG1):c.2682+7C>G rs760941485
NM_000214.3(JAG1):c.2682+8A>G rs560065330
NM_000214.3(JAG1):c.270G>T (p.Gly90=) rs114048678
NM_000214.3(JAG1):c.2724C>T (p.His908=) rs765884543
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.2778C>T (p.Phe926=) rs147793030
NM_000214.3(JAG1):c.2810G>A (p.Arg937Gln) rs145895196
NM_000214.3(JAG1):c.2917-30A>G rs6108652
NM_000214.3(JAG1):c.2917-7G>A rs201573066
NM_000214.3(JAG1):c.294C>T (p.Ser98=) rs79338570
NM_000214.3(JAG1):c.3039T>C (p.His1013=) rs770077297
NM_000214.3(JAG1):c.3048+30_3048+32del rs759022807
NM_000214.3(JAG1):c.3149C>T (p.Ala1050Val) rs764799076
NM_000214.3(JAG1):c.3153C>T (p.Ala1051=) rs754593633
NM_000214.3(JAG1):c.3154G>A (p.Val1052Ile)
NM_000214.3(JAG1):c.3200-12C>T
NM_000214.3(JAG1):c.3291G>C (p.Arg1097=) rs1600177787
NM_000214.3(JAG1):c.3296C>T (p.Pro1099Leu) rs200949270
NM_000214.3(JAG1):c.3318C>T (p.Ala1106=) rs751836991
NM_000214.3(JAG1):c.3333C>T (p.Thr1111=) rs141439542
NM_000214.3(JAG1):c.3343G>A (p.Val1115Met) rs148373907
NM_000214.3(JAG1):c.3507G>C (p.Arg1169=) rs138452567
NM_000214.3(JAG1):c.3521C>T (p.Pro1174Leu) rs775363555
NM_000214.3(JAG1):c.3525G>A (p.Ala1175=) rs745431482
NM_000214.3(JAG1):c.3555C>T (p.Pro1185=) rs142017684
NM_000214.3(JAG1):c.3561C>T (p.Asn1187=) rs754010868
NM_000214.3(JAG1):c.3567G>A (p.Thr1189=) rs373846021
NM_000214.3(JAG1):c.3651C>T (p.Ile1217=) rs542831744
NM_000214.3(JAG1):c.388-4G>C rs567027490
NM_000214.3(JAG1):c.399G>A (p.Thr133=) rs763154396
NM_000214.3(JAG1):c.400T>C (p.Leu134=) rs140511204
NM_000214.3(JAG1):c.435C>A (p.Thr145=) rs747879633
NM_000214.3(JAG1):c.435C>T (p.Thr145=) rs747879633
NM_000214.3(JAG1):c.436G>A (p.Val146Ile) rs6040067
NM_000214.3(JAG1):c.439+10G>A rs201371037
NM_000214.3(JAG1):c.440-173C>T rs2273061
NM_000214.3(JAG1):c.440-3T>C rs1292445129
NM_000214.3(JAG1):c.48C>A (p.Leu16=) rs901489977
NM_000214.3(JAG1):c.51G>A (p.Leu17=) rs1018632242
NM_000214.3(JAG1):c.522G>A (p.Thr174=) rs751230029
NM_000214.3(JAG1):c.526G>A (p.Val176Ile) rs199674138
NM_000214.3(JAG1):c.573C>T (p.Tyr191=) rs766426780
NM_000214.3(JAG1):c.588C>T (p.Cys196=) rs1801138
NM_000214.3(JAG1):c.744A>G (p.Pro248=) rs10485741
NM_000214.3(JAG1):c.765C>T (p.Tyr255=) rs1131695
NM_000214.3(JAG1):c.807G>C (p.Pro269=) rs753646278
NM_000214.3(JAG1):c.81+9C>T rs1235592073
NM_000214.3(JAG1):c.814G>A (p.Val272Ile) rs148990028
NM_000214.3(JAG1):c.82G>C (p.Val28Leu) rs142855305
NM_000214.3(JAG1):c.886+19A>T rs200311847
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.924C>T (p.Asn308=) rs45575136

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