ClinVar Miner

List of variants in gene JAG1 reported as benign

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 220
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HGVS dbSNP gnomAD frequency
NM_000214.3(JAG1):c.3417T>C (p.Tyr1139=) rs1051419 0.71278
NM_000214.3(JAG1):c.756-67A>G rs6040055 0.66772
NM_000214.3(JAG1):c.765= (p.Tyr255=) rs1131695 0.57070
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.440-15T>C rs2273060 0.42936
NM_000214.3(JAG1):c.765C>T (p.Tyr255=) rs1131695 0.42930
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.3417= (p.Tyr1139=) rs1051419 0.29200
NM_000214.3(JAG1):c.*1132T>G rs7828 0.26933
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.3528C>T (p.Tyr1176=) rs1051421 0.21993
NM_000214.3(JAG1):c.2572+117A>G rs73075343 0.16904
NM_000214.3(JAG1):c.3199+126T>G rs6074164 0.14552
NM_000214.3(JAG1):c.2572+274G>A rs73075342 0.14084
NM_000214.3(JAG1):c.1349-117A>C rs6108653 0.13427
NM_000214.3(JAG1):c.2372+77T>A rs755034660 0.10622
NM_000214.3(JAG1):c.588C>T (p.Cys196=) rs1801138 0.10620
NM_000214.3(JAG1):c.1885+252C>T rs73243764 0.08797
NM_000214.3(JAG1):c.2214A>C (p.Thr738=) rs1801140 0.08777
NM_000214.3(JAG1):c.1396-155A>G rs35308216 0.08369
NM_000214.3(JAG1):c.267G>A (p.Gly89=) rs1051415 0.08298
NM_000214.3(JAG1):c.2382C>T (p.Ser794=) rs56225585 0.07991
NM_000214.3(JAG1):c.-433G>A rs73611723 0.07399
NC_000020.11:g.10674216C>T rs7264849 0.07232
NM_000214.3(JAG1):c.755+287T>C rs76730346 0.06958
NM_000214.3(JAG1):c.744A>G (p.Pro248=) rs10485741 0.06845
NM_000214.3(JAG1):c.695-231A>C rs55649270 0.05717
NM_000214.3(JAG1):c.388-43C>T rs17536052 0.05455
NM_000214.3(JAG1):c.755+114A>T rs76481877 0.05194
NM_000214.3(JAG1):c.2612C>G (p.Pro871Arg) rs35761929 0.04795
NC_000020.11:g.10674110T>G rs78307895 0.03602
NM_000214.3(JAG1):c.1570-136T>A rs73075352 0.03370
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.270G>T (p.Gly90=) rs114048678 0.02490
NM_000214.3(JAG1):c.387+117G>T rs6108660 0.02485
NM_000214.3(JAG1):c.924C>T (p.Asn308=) rs45575136 0.02472
NM_000214.3(JAG1):c.388-149C>T rs74464347 0.02187
NM_000214.3(JAG1):c.2917-30A>G rs6108652 0.02177
NM_000214.3(JAG1):c.2458+30A>G rs2273059 0.02157
NM_000214.3(JAG1):c.2000-120C>T rs74803975 0.01934
NM_000214.3(JAG1):c.755+51G>A rs34742789 0.01901
NM_000214.3(JAG1):c.2766C>T (p.Asp922=) rs2229895 0.01701
NM_000214.3(JAG1):c.1885+41C>T rs115435195 0.01630
NM_000214.3(JAG1):c.436G>A (p.Val146Ile) rs6040067 0.01238
NM_000214.3(JAG1):c.755+113T>A rs187074802 0.00959
NM_000214.3(JAG1):c.694+55A>G rs60171534 0.00858
NM_000214.3(JAG1):c.2227+17C>T rs115449289 0.00841
NM_000214.3(JAG1):c.*756A>G rs45534738 0.00635
NM_000214.3(JAG1):c.2459-17A>C rs35891274 0.00618
NM_000214.3(JAG1):c.2573-16C>T rs112196689 0.00568
NM_000214.3(JAG1):c.2345-76A>G rs114405662 0.00540
NM_000214.3(JAG1):c.*619C>T rs146144464 0.00469
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.2458+28C>T rs77308315 0.00379
NM_000214.3(JAG1):c.2572+47G>A rs147841407 0.00275
NM_000214.3(JAG1):c.439+86T>C rs184638975 0.00261
NM_000214.3(JAG1):c.2458+62C>T rs146155406 0.00249
NM_000214.3(JAG1):c.886+19A>T rs200311847 0.00218
NM_000214.3(JAG1):c.2458+143G>A rs149552847 0.00195
NM_000214.3(JAG1):c.1007-16A>G rs201709907 0.00184
NM_000214.3(JAG1):c.2810G>A (p.Arg937Gln) rs145895196 0.00180
NM_000214.3(JAG1):c.2301G>A (p.Thr767=) rs147634857 0.00153
NM_000214.3(JAG1):c.694+121T>C rs148689714 0.00123
NM_000214.3(JAG1):c.909T>C (p.His303=) rs139574260 0.00119
NM_000214.3(JAG1):c.2459-99T>A rs559816430 0.00116
NM_000214.3(JAG1):c.1120+10A>G rs201711717 0.00105
NM_000214.3(JAG1):c.*1551C>T rs760811504 0.00101
NM_000214.3(JAG1):c.1578C>T (p.Ile526=) rs1801139 0.00092
NM_000214.3(JAG1):c.2778C>T (p.Phe926=) rs147793030 0.00089
NM_000214.3(JAG1):c.1349-11T>G rs80338240 0.00076
NM_000214.3(JAG1):c.439+10G>A rs201371037 0.00076
NM_000214.3(JAG1):c.2231G>A (p.Arg744Gln) rs147809756 0.00069
NM_000214.3(JAG1):c.1349-59A>C rs184110582 0.00062
NM_000214.3(JAG1):c.133G>T (p.Val45Leu) rs183974372 0.00054
NM_000214.3(JAG1):c.1389C>T (p.Ser463=) rs147229008 0.00051
NM_000214.3(JAG1):c.2228-68G>A rs371437476 0.00049
NM_000214.3(JAG1):c.1235-87C>A rs138284356 0.00044
NM_000214.3(JAG1):c.1755C>T (p.Asn585=) rs142808131 0.00044
NM_000214.3(JAG1):c.2329C>T (p.Pro777Ser) rs202063628 0.00042
NM_000214.3(JAG1):c.894T>C (p.Asn298=) rs149897344 0.00039
NM_000214.3(JAG1):c.1920C>T (p.Asn640=) rs372121353 0.00037
NM_000214.3(JAG1):c.2604T>C (p.Ser868=) rs138189639 0.00032
NM_000214.3(JAG1):c.388-4G>C rs567027490 0.00031
NM_000214.3(JAG1):c.*1084G>C rs148175963 0.00030
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.*6C>T rs376881523 0.00027
NM_000214.3(JAG1):c.2073T>C (p.Cys691=) rs200648035 0.00026
NM_000214.3(JAG1):c.3114T>G (p.Leu1038=) rs371805640 0.00026
NM_000214.3(JAG1):c.414G>A (p.Ala138=) rs371682149 0.00026
NM_000214.3(JAG1):c.1439C>T (p.Ala480Val) rs149366993 0.00024
NM_000214.3(JAG1):c.3507G>C (p.Arg1169=) rs138452567 0.00020
NM_000214.3(JAG1):c.526G>A (p.Val176Ile) rs199674138 0.00019
NM_000214.3(JAG1):c.2459-13C>T rs543005578 0.00017
NM_000214.3(JAG1):c.3048+49C>T rs139092361 0.00016
NM_000214.3(JAG1):c.2596A>G (p.Met866Val) rs746108409 0.00015
NM_000214.3(JAG1):c.-42G>T rs374222937 0.00014
NM_000214.3(JAG1):c.1806C>T (p.His602=) rs764290237 0.00013
NM_000214.3(JAG1):c.3555C>T (p.Pro1185=) rs142017684 0.00013
NM_000214.3(JAG1):c.19C>T (p.Arg7Cys) rs563232654 0.00012
NM_000214.3(JAG1):c.694+26C>T rs377623653 0.00012
NM_000214.3(JAG1):c.3329A>C (p.Asn1110Thr) rs150811951 0.00011
NM_000214.3(JAG1):c.1570-20G>A rs140937305 0.00010
NM_000214.3(JAG1):c.1608C>T (p.Asn536=) rs200648453 0.00009
NM_000214.3(JAG1):c.1826C>T (p.Ser609Leu) rs199505265 0.00009
NM_000214.3(JAG1):c.2350A>G (p.Asn784Asp) rs760470297 0.00009
NM_000214.3(JAG1):c.3346C>T (p.Arg1116Trp) rs377723772 0.00009
NM_000214.3(JAG1):c.3006C>T (p.Cys1002=) rs372984801 0.00008
NM_000214.3(JAG1):c.3302G>A (p.Ser1101Asn) rs377617900 0.00008
NM_000214.3(JAG1):c.1062C>T (p.Thr354=) rs201234509 0.00007
NM_000214.3(JAG1):c.2828C>T (p.Pro943Leu) rs767826365 0.00007
NM_000214.3(JAG1):c.3652G>A (p.Val1218Ile) rs150295026 0.00007
NM_000214.3(JAG1):c.1015G>T (p.Ala339Ser) rs751516838 0.00006
NM_000214.3(JAG1):c.1655C>T (p.Pro552Leu) rs201785359 0.00006
NM_000214.3(JAG1):c.2527C>T (p.Arg843Trp) rs201608372 0.00006
NM_000214.3(JAG1):c.3333C>T (p.Thr1111=) rs141439542 0.00006
NM_000214.3(JAG1):c.3583A>G (p.Asn1195Asp) rs397515876 0.00006
NM_000214.3(JAG1):c.5G>T (p.Arg2Leu) rs1026004197 0.00006
NM_000214.3(JAG1):c.2781C>T (p.Val927=) rs746664646 0.00005
NM_000214.3(JAG1):c.2928G>A (p.Thr976=) rs764341568 0.00005
NM_000214.3(JAG1):c.3065G>A (p.Arg1022Gln) rs376089631 0.00005
NM_000214.3(JAG1):c.3168A>C (p.Arg1056Ser) rs146006022 0.00005
NM_000214.3(JAG1):c.316A>G (p.Thr106Ala) rs909905245 0.00005
NM_000214.3(JAG1):c.3521C>T (p.Pro1174Leu) rs775363555 0.00005
NM_000214.3(JAG1):c.3570G>A (p.Pro1190=) rs201572666 0.00005
NM_000214.3(JAG1):c.*1493A>G rs78471165 0.00004
NM_000214.3(JAG1):c.1527C>A (p.Phe509Leu) rs770377023 0.00004
NM_000214.3(JAG1):c.2139G>A (p.Thr713=) rs374177670 0.00004
NM_000214.3(JAG1):c.2827C>T (p.Pro943Ser) rs760332763 0.00004
NM_000214.3(JAG1):c.2884A>G (p.Thr962Ala) rs527420845 0.00004
NM_000214.3(JAG1):c.3651C>T (p.Ile1217=) rs542831744 0.00004
NM_000214.3(JAG1):c.1230G>A (p.Gln410=) rs748150117 0.00003
NM_000214.3(JAG1):c.1438G>T (p.Ala480Ser) rs144557870 0.00003
NM_000214.3(JAG1):c.1797T>C (p.Cys599=) rs746760284 0.00003
NM_000214.3(JAG1):c.2114-18T>C rs766999933 0.00003
NM_000214.3(JAG1):c.2280G>T (p.Val760=) rs1030098117 0.00003
NM_000214.3(JAG1):c.3141G>A (p.Ser1047=) rs202075581 0.00003
NM_000214.3(JAG1):c.3178C>T (p.Arg1060Trp) rs760992773 0.00003
NM_000214.3(JAG1):c.3503C>G (p.Ala1168Gly) rs375431219 0.00003
NM_000214.3(JAG1):c.1443C>T (p.Gly481=) rs879921003 0.00002
NM_000214.3(JAG1):c.1707G>A (p.Thr569=) rs745608068 0.00002
NM_000214.3(JAG1):c.2188A>G (p.Met730Val) rs143346449 0.00002
NM_000214.3(JAG1):c.282C>T (p.Phe94=) rs772592163 0.00002
NM_000214.3(JAG1):c.2911T>C (p.Ser971Pro) rs750570683 0.00002
NM_000214.3(JAG1):c.3209T>C (p.Val1070Ala) rs374654050 0.00002
NM_000214.3(JAG1):c.3523G>A (p.Ala1175Thr) rs769685858 0.00002
NM_000214.3(JAG1):c.105C>T (p.Phe35=) rs765442930 0.00001
NM_000214.3(JAG1):c.1367G>A (p.Gly456Asp) rs534533867 0.00001
NM_000214.3(JAG1):c.1368C>T (p.Gly456=) rs763798259 0.00001
NM_000214.3(JAG1):c.1414C>T (p.Arg472Cys) rs1346269262 0.00001
NM_000214.3(JAG1):c.1511A>G (p.Asn504Ser) rs527236046 0.00001
NM_000214.3(JAG1):c.1551C>T (p.Phe517=) rs757282924 0.00001
NM_000214.3(JAG1):c.2150G>C (p.Gly717Ala) rs200473477 0.00001
NM_000214.3(JAG1):c.2227+38G>A rs766582194 0.00001
NM_000214.3(JAG1):c.2559C>T (p.Ala853=) rs201234393 0.00001
NM_000214.3(JAG1):c.2615A>G (p.Asp872Gly) rs111706668 0.00001
NM_000214.3(JAG1):c.2616T>C (p.Asp872=) rs1045686625 0.00001
NM_000214.3(JAG1):c.2699G>A (p.Arg900Gln) rs138945068 0.00001
NM_000214.3(JAG1):c.2779G>A (p.Val927Ile) rs770415804 0.00001
NM_000214.3(JAG1):c.3048+20A>G rs924322585 0.00001
NM_000214.3(JAG1):c.3124C>T (p.Arg1042Cys) rs778801776 0.00001
NM_000214.3(JAG1):c.33G>T (p.Gly11=) rs1468438751 0.00001
NM_000214.3(JAG1):c.346G>T (p.Asp116Tyr) rs1383543004 0.00001
NM_000214.3(JAG1):c.3542G>A (p.Arg1181Lys) rs758788135 0.00001
NM_000214.3(JAG1):c.3562G>A (p.Gly1188Ser) rs1051571820 0.00001
NM_000214.3(JAG1):c.3577C>T (p.His1193Tyr) rs775241983 0.00001
NM_000214.3(JAG1):c.440-22T>G rs776924226 0.00001
NM_000214.3(JAG1):c.702C>T (p.Cys234=) rs202109974 0.00001
NM_000214.3(JAG1):c.755+15C>T rs761987251 0.00001
NM_000214.3(JAG1):c.*1206del rs34134142
NM_000214.3(JAG1):c.*486del rs3842434
NM_000214.3(JAG1):c.*856dup rs3840074
NM_000214.3(JAG1):c.-386dup rs886056519
NM_000214.3(JAG1):c.-458C>T rs146416672
NM_000214.3(JAG1):c.1205C>G (p.Pro402Arg) rs144204614
NM_000214.3(JAG1):c.1263T>C (p.Cys421=) rs1261578129
NM_000214.3(JAG1):c.1349-8dup rs767319365
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.1569+68T>G rs34325313
NM_000214.3(JAG1):c.1570-73C>G rs56039205
NM_000214.3(JAG1):c.1721-223TG[2] rs3830831
NM_000214.3(JAG1):c.1823A>G (p.Gln608Arg)
NM_000214.3(JAG1):c.1886-20dup
NM_000214.3(JAG1):c.2227+50G>C rs540429229
NM_000214.3(JAG1):c.2271C>T (p.Gly757=)
NM_000214.3(JAG1):c.2344+17del rs774508190
NM_000214.3(JAG1):c.2372+15C>T rs748962378
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+80_2372+81insGTGTGA rs1555828066
NM_000214.3(JAG1):c.2372+80_2372+81insGTGTGTGA rs1555828066
NM_000214.3(JAG1):c.2458+124G>T rs2122600197
NM_000214.3(JAG1):c.2458+16G>A rs772170740
NM_000214.3(JAG1):c.2459-89T>G rs2122598806
NM_000214.3(JAG1):c.2573-294C>A rs73075341
NM_000214.3(JAG1):c.2581A>G (p.Arg861Gly) rs369503527
NM_000214.3(JAG1):c.2620G>A (p.Ala874Thr) rs755568827
NM_000214.3(JAG1):c.2632G>A (p.Asp878Asn) rs750102792
NM_000214.3(JAG1):c.2916+18dup rs3215563
NM_000214.3(JAG1):c.2916+27del rs3215563
NM_000214.3(JAG1):c.294C>T (p.Ser98=) rs79338570
NM_000214.3(JAG1):c.3309A>T (p.Thr1103=) rs1259778353
NM_000214.3(JAG1):c.3505C>G (p.Arg1169Gly) rs368162343
NM_000214.3(JAG1):c.694+4TG[8] rs112693360
NM_000214.3(JAG1):c.695-10dup rs762788344
NM_000214.3(JAG1):c.695-5del rs762788344
NM_000214.3(JAG1):c.82-161del rs33929314
NM_000214.3(JAG1):c.82-175dup rs33929314
NM_000214.3(JAG1):c.954C>T (p.Asp318=)

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