ClinVar Miner

List of variants in gene JAG1 reported by GeneDx

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 276
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HGVS dbSNP gnomAD frequency
NM_000214.3(JAG1):c.756-67A>G rs6040055 0.66772
NM_000214.3(JAG1):c.*1572A>G rs8708 0.55702
NM_000214.3(JAG1):c.-385T>G rs1051412 0.55267
NM_000214.3(JAG1):c.440-173C>T rs2273061 0.45420
NM_000214.3(JAG1):c.694+270C>A rs35531956 0.37225
NM_000214.3(JAG1):c.2458+236T>C rs889509 0.36136
NM_000214.3(JAG1):c.3199+218G>A rs6040050 0.24704
NM_000214.3(JAG1):c.82-85C>T rs62185096 0.22775
NM_000214.3(JAG1):c.2572+117A>G rs73075343 0.17344
NM_000214.3(JAG1):c.3199+126T>G rs6074164 0.14552
NM_000214.3(JAG1):c.2572+274G>A rs73075342 0.14446
NM_000214.3(JAG1):c.1349-117A>C rs6108653 0.13693
NM_000214.3(JAG1):c.1885+252C>T rs73243764 0.08797
NM_000214.3(JAG1):c.1396-155A>G rs35308216 0.07456
NM_000214.3(JAG1):c.-433G>A rs73611723 0.07399
NC_000020.11:g.10674216C>T rs7264849 0.07239
NM_000214.3(JAG1):c.755+287T>C rs76730346 0.06958
NM_000214.3(JAG1):c.695-231A>C rs55649270 0.05717
NM_000214.3(JAG1):c.388-43C>T rs17536052 0.05590
NM_000214.3(JAG1):c.755+114A>T rs76481877 0.05554
NC_000020.11:g.10674110T>G rs78307895 0.03602
NM_000214.3(JAG1):c.1570-136T>A rs73075352 0.03460
NM_000214.3(JAG1):c.2917-32dup rs75617279 0.03277
NM_000214.3(JAG1):c.3199+258G>T rs79656997 0.02875
NM_000214.3(JAG1):c.694+242C>A rs62185094 0.02607
NM_000214.3(JAG1):c.270G>T (p.Gly90=) rs114048678 0.02490
NM_000214.3(JAG1):c.387+117G>T rs6108660 0.02485
NM_000214.3(JAG1):c.1006+202C>T rs35793014 0.02369
NM_000214.3(JAG1):c.388-149C>T rs74464347 0.02321
NM_000214.3(JAG1):c.2917-30A>G rs6108652 0.02177
NM_000214.3(JAG1):c.1886-231T>G rs113194138 0.02129
NM_000214.3(JAG1):c.1885+272G>A rs112509369 0.02105
NM_000214.3(JAG1):c.2458+30A>G rs2273059 0.02094
NM_000214.3(JAG1):c.2000-120C>T rs74803975 0.02080
NM_000214.3(JAG1):c.755+51G>A rs34742789 0.01983
NM_000214.3(JAG1):c.1885+41C>T rs115435195 0.01630
NM_000214.3(JAG1):c.439+170T>C rs143041552 0.01598
NM_000214.3(JAG1):c.2459-345C>T rs114221614 0.01565
NM_000214.3(JAG1):c.388-229C>T rs141132457 0.01419
NM_000214.3(JAG1):c.2572+281C>T rs116310079 0.01202
NM_000214.3(JAG1):c.1999+173A>G rs116234949 0.01089
NM_000214.3(JAG1):c.694+55A>G rs60171534 0.00926
NM_000214.3(JAG1):c.2227+17C>T rs115449289 0.00903
NM_000214.3(JAG1):c.1006+157A>T rs139795187 0.00893
NM_000214.3(JAG1):c.1121-205C>T rs55917221 0.00698
NM_000214.3(JAG1):c.2572+194C>G rs113708660 0.00634
NM_000214.3(JAG1):c.2459-17A>C rs35891274 0.00618
NM_000214.3(JAG1):c.2573-16C>T rs112196689 0.00608
NM_000214.3(JAG1):c.2345-76A>G rs114405662 0.00540
NM_000214.3(JAG1):c.1570-28C>G rs144983462 0.00425
NM_000214.3(JAG1):c.887-58A>G rs199902368 0.00404
NM_000214.3(JAG1):c.1721-21G>A rs35357944 0.00396
NM_000214.3(JAG1):c.2572+47G>A rs147841407 0.00290
NM_000214.3(JAG1):c.2458+62C>T rs146155406 0.00265
NM_000214.3(JAG1):c.439+86T>C rs184638975 0.00261
NM_000214.3(JAG1):c.886+19A>T rs200311847 0.00226
NM_000214.3(JAG1):c.2458+143G>A rs149552847 0.00201
NM_000214.3(JAG1):c.2810G>A (p.Arg937Gln) rs145895196 0.00180
NM_000214.3(JAG1):c.2301G>A (p.Thr767=) rs147634857 0.00165
NM_000214.3(JAG1):c.2459-99T>A rs559816430 0.00129
NM_000214.3(JAG1):c.694+121T>C rs148689714 0.00128
NM_000214.3(JAG1):c.1120+10A>G rs201711717 0.00118
NM_000214.3(JAG1):c.2778C>T (p.Phe926=) rs147793030 0.00109
NM_000214.3(JAG1):c.1578C>T (p.Ile526=) rs1801139 0.00092
NM_000214.3(JAG1):c.439+10G>A rs201371037 0.00081
NM_000214.3(JAG1):c.2231G>A (p.Arg744Gln) rs147809756 0.00069
NM_000214.3(JAG1):c.2458+40C>T rs199571405 0.00064
NM_000214.3(JAG1):c.133G>T (p.Val45Leu) rs183974372 0.00054
NM_000214.3(JAG1):c.1389C>T (p.Ser463=) rs147229008 0.00050
NM_000214.3(JAG1):c.2228-68G>A rs371437476 0.00049
NM_000214.3(JAG1):c.1755C>T (p.Asn585=) rs142808131 0.00045
NM_000214.3(JAG1):c.1235-87C>A rs138284356 0.00044
NM_000214.3(JAG1):c.2329C>T (p.Pro777Ser) rs202063628 0.00044
NM_000214.3(JAG1):c.2573-49C>T rs144886349 0.00044
NM_000214.3(JAG1):c.814G>A (p.Val272Ile) rs148990028 0.00041
NM_000214.3(JAG1):c.894T>C (p.Asn298=) rs149897344 0.00039
NM_000214.3(JAG1):c.82G>C (p.Val28Leu) rs142855305 0.00031
NM_000214.3(JAG1):c.2344+15C>G rs200139177 0.00029
NM_000214.3(JAG1):c.1569+47C>T rs184530396 0.00028
NM_000214.3(JAG1):c.414G>A (p.Ala138=) rs371682149 0.00026
NM_000214.3(JAG1):c.399G>A (p.Thr133=) rs763154396 0.00024
NM_000214.3(JAG1):c.3296C>T (p.Pro1099Leu) rs200949270 0.00023
NM_000214.3(JAG1):c.3507G>C (p.Arg1169=) rs138452567 0.00022
NM_000214.3(JAG1):c.2073T>C (p.Cys691=) rs200648035 0.00019
NM_000214.3(JAG1):c.1628G>A (p.Arg543His) rs544877858 0.00016
NM_000214.3(JAG1):c.3048+49C>T rs139092361 0.00016
NM_000214.3(JAG1):c.3281G>A (p.Arg1094Gln) rs139629694 0.00015
NM_000214.3(JAG1):c.-42G>T rs374222937 0.00014
NM_000214.3(JAG1):c.1043G>A (p.Arg348Lys) rs200227737 0.00014
NM_000214.3(JAG1):c.3467T>C (p.Val1156Ala) rs143966918 0.00014
NM_000214.3(JAG1):c.694+26C>T rs377623653 0.00014
NM_000214.3(JAG1):c.526G>A (p.Val176Ile) rs199674138 0.00013
NM_000214.3(JAG1):c.1146C>T (p.Asn382=) rs200133928 0.00011
NM_000214.3(JAG1):c.19C>T (p.Arg7Cys) rs563232654 0.00011
NM_000214.3(JAG1):c.2666G>A (p.Arg889Gln) rs149419694 0.00011
NM_000214.3(JAG1):c.3329A>C (p.Asn1110Thr) rs150811951 0.00011
NM_000214.3(JAG1):c.1826C>T (p.Ser609Leu) rs199505265 0.00009
NM_000214.3(JAG1):c.3567G>A (p.Thr1189=) rs373846021 0.00009
NM_000214.3(JAG1):c.1062C>T (p.Thr354=) rs201234509 0.00007
NM_000214.3(JAG1):c.3333C>T (p.Thr1111=) rs141439542 0.00006
NM_000214.3(JAG1):c.3521C>T (p.Pro1174Leu) rs775363555 0.00005
NM_000214.3(JAG1):c.521C>T (p.Thr174Met) rs144999773 0.00005
NM_000214.3(JAG1):c.1609G>A (p.Gly537Ser) rs756787187 0.00004
NM_000214.3(JAG1):c.2312A>G (p.Lys771Arg) rs149949294 0.00004
NM_000214.3(JAG1):c.105C>T (p.Phe35=) rs765442930 0.00003
NM_000214.3(JAG1):c.2114-18T>C rs766999933 0.00003
NM_000214.3(JAG1):c.1707G>A (p.Thr569=) rs745608068 0.00002
NM_000214.3(JAG1):c.2113C>T (p.Arg705Cys) rs1436816052 0.00002
NM_000214.3(JAG1):c.2227+9A>G rs763616526 0.00002
NM_000214.3(JAG1):c.2498C>T (p.Ala833Val) rs141292792 0.00002
NM_000214.3(JAG1):c.388-4G>C rs567027490 0.00002
NM_000214.3(JAG1):c.1117A>G (p.Thr373Ala) rs1212026437 0.00001
NM_000214.3(JAG1):c.1444G>A (p.Asp482Asn) rs766370717 0.00001
NM_000214.3(JAG1):c.1627C>T (p.Arg543Cys) rs375017114 0.00001
NM_000214.3(JAG1):c.2113+1G>A rs1294950721 0.00001
NM_000214.3(JAG1):c.2114G>A (p.Arg705His) rs1320720578 0.00001
NM_000214.3(JAG1):c.2227+38G>A rs766582194 0.00001
NM_000214.3(JAG1):c.2429C>T (p.Pro810Leu) rs769531968 0.00001
NM_000214.3(JAG1):c.2559C>T (p.Ala853=) rs201234393 0.00001
NM_000214.3(JAG1):c.3048+20A>G rs924322585 0.00001
NM_000214.3(JAG1):c.3287G>A (p.Arg1096Gln) rs2067258057 0.00001
NM_000214.3(JAG1):c.3291G>C (p.Arg1097=) rs1600177787 0.00001
NM_000214.3(JAG1):c.3530C>T (p.Thr1177Met) rs533237399 0.00001
NM_000214.3(JAG1):c.448A>G (p.Ser150Gly) rs1229047867 0.00001
NM_000214.3(JAG1):c.573C>T (p.Tyr191=) rs766426780 0.00001
NM_000214.3(JAG1):c.860A>G (p.Asn287Ser) rs768317581 0.00001
GRCh37/hg19 20p12.2(chr20:10639152-10639516)x1
NC_000020.11:g.10674180C>T rs140761913
NM_000214.3(JAG1):c.*2A>G rs879254256
NM_000214.3(JAG1):c.-299AAG[1] rs147400796
NM_000214.3(JAG1):c.-386dup rs886056519
NM_000214.3(JAG1):c.-458C>T rs146416672
NM_000214.3(JAG1):c.-6_24del (p.Met1_Gly8del) rs863223661
NM_000214.3(JAG1):c.-75_-61dup rs1555831023
NM_000214.3(JAG1):c.1000G>A (p.Glu334Lys)
NM_000214.3(JAG1):c.1047dup (p.Ser350fs) rs863223670
NM_000214.3(JAG1):c.1056G>C (p.Lys352Asn)
NM_000214.3(JAG1):c.1082_1083del (p.Glu361fs) rs876661111
NM_000214.3(JAG1):c.1138_1140del (p.Pro380del)
NM_000214.3(JAG1):c.1198_1199dup (p.Pro401fs) rs1555828843
NM_000214.3(JAG1):c.1205dup (p.Gln403fs) rs35615084
NM_000214.3(JAG1):c.1264G>A (p.Val422Ile)
NM_000214.3(JAG1):c.1339T>C (p.Cys447Arg) rs863223651
NM_000214.3(JAG1):c.1349-16C>G rs1057523387
NM_000214.3(JAG1):c.1349-59A>C rs184110582
NM_000214.3(JAG1):c.1352T>A (p.Ile451Asn) rs1178459436
NM_000214.3(JAG1):c.1375C>A (p.Gln459Lys) rs1289016419
NM_000214.3(JAG1):c.1395+81T>G rs2122609482
NM_000214.3(JAG1):c.1396-27TC[6] rs544547916
NM_000214.3(JAG1):c.1396-82C>T rs45498692
NM_000214.3(JAG1):c.1473_1474del (p.Ala492fs)
NM_000214.3(JAG1):c.1485_1486del (p.Cys496fs) rs876660981
NM_000214.3(JAG1):c.148C>T (p.Gln50Ter) rs886039539
NM_000214.3(JAG1):c.1492_1495del (p.Asn498fs) rs1555828646
NM_000214.3(JAG1):c.1509_1510del (p.Gln503_Asn504insTer) rs886039696
NM_000214.3(JAG1):c.1522dup (p.Arg508fs) rs1555828640
NM_000214.3(JAG1):c.1569+68T>G rs34325313
NM_000214.3(JAG1):c.1570-73C>G rs56039205
NM_000214.3(JAG1):c.1615C>T (p.Gln539Ter) rs1555828577
NM_000214.3(JAG1):c.1680C>A (p.Cys560Ter) rs886041868
NM_000214.3(JAG1):c.1716_1717del (p.Cys572_Glu573delinsTer) rs876661126
NM_000214.3(JAG1):c.1720+172G>T rs143716483
NM_000214.3(JAG1):c.1721-223TG[2] rs3830831
NM_000214.3(JAG1):c.1755C>G (p.Asn585Lys) rs142808131
NM_000214.3(JAG1):c.1890del (p.Asn631fs)
NM_000214.3(JAG1):c.1899_1900del (p.Cys633_Glu634delinsTer) rs1555828321
NM_000214.3(JAG1):c.192dup (p.Lys65fs) rs863223666
NM_000214.3(JAG1):c.1946_1951delinsCTCC (p.Asn649fs) rs863223682
NM_000214.3(JAG1):c.1955dup (p.Cys653fs) rs2122604461
NM_000214.3(JAG1):c.2000-190_2000-188dup rs55752058
NM_000214.3(JAG1):c.2039dup (p.Thr681fs) rs1555828250
NM_000214.3(JAG1):c.2045G>A (p.Cys682Tyr) rs876661229
NM_000214.3(JAG1):c.2080A>T (p.Lys694Ter) rs876661142
NM_000214.3(JAG1):c.2096_2100del (p.Gly699fs) rs886039393
NM_000214.3(JAG1):c.2106C>A (p.Cys702Ter) rs863223680
NM_000214.3(JAG1):c.2122_2125del (p.Gln708fs) rs727504412
NM_000214.3(JAG1):c.2173dup (p.Asp725fs) rs1568794128
NM_000214.3(JAG1):c.2227+50G>C rs540429229
NM_000214.3(JAG1):c.222C>T (p.Tyr74=) rs1600196465
NM_000214.3(JAG1):c.2230C>T (p.Arg744Ter) rs863223655
NM_000214.3(JAG1):c.2257dup (p.Cys753fs) rs863223672
NM_000214.3(JAG1):c.2264A>G (p.Asn755Ser) rs2122602452
NM_000214.3(JAG1):c.2268_2270del (p.Gly757del)
NM_000214.3(JAG1):c.2304C>A (p.Cys768Ter) rs755427292
NM_000214.3(JAG1):c.2370del (p.Cys791fs) rs886042050
NM_000214.3(JAG1):c.2372+15C>T rs748962378
NM_000214.3(JAG1):c.2372+3_2372+6del rs2067293629
NM_000214.3(JAG1):c.2372+43TG[17] rs33967297
NM_000214.3(JAG1):c.2372+43TG[18] rs33967297
NM_000214.3(JAG1):c.2372+43TG[20] rs33967297
NM_000214.3(JAG1):c.2372+43TG[21] rs33967297
NM_000214.3(JAG1):c.2372+77T>A rs755034660
NM_000214.3(JAG1):c.2372+80GA[3] rs113910163
NM_000214.3(JAG1):c.2372+80_2372+81insGTGTGA rs1555828066
NM_000214.3(JAG1):c.2372+80_2372+81insGTGTGTGA rs1555828066
NM_000214.3(JAG1):c.23G>A (p.Gly8Asp) rs993238320
NM_000214.3(JAG1):c.2418C>A (p.Cys806Ter) rs533306015
NM_000214.3(JAG1):c.2418del (p.Cys806fs) rs876661165
NM_000214.3(JAG1):c.2458+124G>T rs2122600197
NM_000214.3(JAG1):c.2458+2_2458+5del rs1568793232
NM_000214.3(JAG1):c.2459-89T>G rs2122598806
NM_000214.3(JAG1):c.2465del (p.Asn822fs) rs863223673
NM_000214.3(JAG1):c.2538C>A (p.Cys846Ter)
NM_000214.3(JAG1):c.2566C>T (p.Gln856Ter) rs876661061
NM_000214.3(JAG1):c.2573-294C>A rs73075341
NM_000214.3(JAG1):c.2619_2620del (p.Ala874fs) rs863223674
NM_000214.3(JAG1):c.262G>A (p.Ala88Thr)
NM_000214.3(JAG1):c.2640del (p.Asp879_Cys880insTer) rs1085307595
NM_000214.3(JAG1):c.2698C>T (p.Arg900Ter) rs1555827789
NM_000214.3(JAG1):c.269_270del (p.Gly90fs) rs863223667
NM_000214.3(JAG1):c.2705G>C (p.Cys902Ser) rs876661122
NM_000214.3(JAG1):c.270dup (p.Pro91fs) rs863223667
NM_000214.3(JAG1):c.2750G>C (p.Cys917Ser)
NM_000214.3(JAG1):c.2803G>T (p.Glu935Ter) rs753161584
NM_000214.3(JAG1):c.2916+18dup rs3215563
NM_000214.3(JAG1):c.2916+27del rs3215563
NM_000214.3(JAG1):c.2924_2925dup (p.Thr976fs) rs863223683
NM_000214.3(JAG1):c.2939G>C (p.Cys980Ser) rs2122595886
NM_000214.3(JAG1):c.2948del (p.Glu982_Leu983insTer) rs863223675
NM_000214.3(JAG1):c.294C>T (p.Ser98=) rs79338570
NM_000214.3(JAG1):c.2968A>T (p.Lys990Ter) rs876661182
NM_000214.3(JAG1):c.3008_3009dup (p.Pro1004fs) rs863223676
NM_000214.3(JAG1):c.3048+1G>A rs876661121
NM_000214.3(JAG1):c.3048+1G>T rs876661121
NM_000214.3(JAG1):c.3062del (p.Ile1021fs) rs876661095
NM_000214.3(JAG1):c.3067del (p.Asp1023fs) rs863223677
NM_000214.3(JAG1):c.3097G>C (p.Asp1033His) rs772228887
NM_000214.3(JAG1):c.311del (p.Gly104fs) rs886041782
NM_000214.3(JAG1):c.3149C>T (p.Ala1050Val) rs764799076
NM_000214.3(JAG1):c.3164_3167del (p.Val1055fs) rs1555827653
NM_000214.3(JAG1):c.3308del (p.Thr1103fs) rs869312854
NM_000214.3(JAG1):c.349dup (p.Arg117fs) rs886041727
NM_000214.3(JAG1):c.3517C>A (p.Gln1173Lys) rs1555827480
NM_000214.3(JAG1):c.3538G>A (p.Asp1180Asn)
NM_000214.3(JAG1):c.3557C>T (p.Pro1186Leu)
NM_000214.3(JAG1):c.3637C>T (p.Arg1213Ter) rs769276255
NM_000214.3(JAG1):c.3648C>A (p.Tyr1216Ter)
NM_000214.3(JAG1):c.377_378delinsAA (p.Phe126Ter) rs886039724
NM_000214.3(JAG1):c.391T>C (p.Ser131Pro)
NM_000214.3(JAG1):c.438_439+2del rs2122632102
NM_000214.3(JAG1):c.439+1G>A rs863223648
NM_000214.3(JAG1):c.440-22T>G rs776924226
NM_000214.3(JAG1):c.440-3T>C rs1292445129
NM_000214.3(JAG1):c.51G>A (p.Leu17=) rs1018632242
NM_000214.3(JAG1):c.537dup (p.Glu180Ter) rs863223663
NM_000214.3(JAG1):c.544C>T (p.Gln182Ter) rs863223678
NM_000214.3(JAG1):c.546G>C (p.Gln182His) rs2122623700
NM_000214.3(JAG1):c.56C>T (p.Ala19Val) rs886043988
NM_000214.3(JAG1):c.571T>C (p.Tyr191His)
NM_000214.3(JAG1):c.587_588delinsT (p.Cys196fs) rs863223664
NM_000214.3(JAG1):c.611A>G (p.Asp204Gly) rs2122623598
NM_000214.3(JAG1):c.626A>G (p.His209Arg) rs863223679
NM_000214.3(JAG1):c.62T>C (p.Leu21Pro) rs876660977
NM_000214.3(JAG1):c.648dup (p.Asn217fs) rs1131691963
NM_000214.3(JAG1):c.664del (p.Glu222fs) rs863223665
NM_000214.3(JAG1):c.693_694del (p.Arg231fs) rs876660978
NM_000214.3(JAG1):c.694+1G>A rs876660979
NM_000214.3(JAG1):c.695-12T>A rs886039498
NM_000214.3(JAG1):c.703C>T (p.Arg235Ter) rs876660980
NM_000214.3(JAG1):c.755+113T>A rs187074802
NM_000214.3(JAG1):c.765C>G (p.Tyr255Ter) rs1131695
NM_000214.3(JAG1):c.771G>A (p.Trp257Ter)
NM_000214.3(JAG1):c.776G>A (p.Gly259Asp)
NM_000214.3(JAG1):c.797del (p.Ile266fs) rs863223668
NM_000214.3(JAG1):c.7dup (p.Ser3fs) rs863223662
NM_000214.3(JAG1):c.81+1G>A rs876661066
NM_000214.3(JAG1):c.82-161del rs33929314
NM_000214.3(JAG1):c.82-175dup rs33929314
NM_000214.3(JAG1):c.820G>A (p.Gly274Ser) rs2122615095
NM_000214.3(JAG1):c.863G>A (p.Trp288Ter) rs1064796702
NM_000214.3(JAG1):c.871C>T (p.Gln291Ter) rs876661096
NM_000214.3(JAG1):c.910C>T (p.Gln304Ter) rs863223649
NM_000214.3(JAG1):c.962_964dup (p.Cys322Ter) rs1600185804
NM_000214.3(JAG1):c.974_975del (p.Pro325fs) rs863223669
NM_000214.3(JAG1):c.97G>A (p.Gly33Ser) rs876661123
NM_000214.3(JAG1):c.998G>A (p.Cys333Tyr) rs2122614331

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