ClinVar Miner

List of variants in gene JAG1 reported as benign for not provided

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Gene type:
ClinVar version:
Total variants: 92
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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.270G>T (p.Gly90=) rs114048678 0.02490
NM_000214.3(JAG1):c.387+117G>T rs6108660 0.02485
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.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.694+55A>G rs60171534 0.00926
NM_000214.3(JAG1):c.2227+17C>T rs115449289 0.00903
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.2459-99T>A rs559816430 0.00129
NM_000214.3(JAG1):c.694+121T>C rs148689714 0.00128
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.439+10G>A rs201371037 0.00081
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.1569+47C>T rs184530396 0.00028
NM_000214.3(JAG1):c.414G>A (p.Ala138=) rs371682149 0.00026
NM_000214.3(JAG1):c.3048+49C>T rs139092361 0.00016
NM_000214.3(JAG1):c.694+26C>T rs377623653 0.00014
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.2227+38G>A rs766582194 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.-386dup rs886056519
NM_000214.3(JAG1):c.1349-59A>C rs184110582
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.2227+50G>C rs540429229
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+77T>A rs755034660
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.2459-89T>G rs2122598806
NM_000214.3(JAG1):c.2573-294C>A rs73075341
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.440-22T>G rs776924226
NM_000214.3(JAG1):c.755+113T>A rs187074802
NM_000214.3(JAG1):c.82-161del rs33929314
NM_000214.3(JAG1):c.82-175dup rs33929314

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