ClinVar Miner

List of variants in gene JAG1 reported by Invitae

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 94
Download table as spreadsheet
HGVS dbSNP
NC_000020.10:g.(?_10620126)_(10620623_?)del
NM_000214.3(JAG1):c.101A>C (p.Gln34Pro) rs1555830973
NM_000214.3(JAG1):c.1057G>T (p.Glu353Ter)
NM_000214.3(JAG1):c.105C>T (p.Phe35=) rs765442930
NM_000214.3(JAG1):c.1110A>G (p.Thr370=) rs538048082
NM_000214.3(JAG1):c.1120+10A>G rs201711717
NM_000214.3(JAG1):c.1156G>A (p.Gly386Arg) rs863223650
NM_000214.3(JAG1):c.1205dup (p.Gln403fs) rs35615084
NM_000214.3(JAG1):c.1318C>T (p.Pro440Ser)
NM_000214.3(JAG1):c.133G>T (p.Val45Leu) rs183974372
NM_000214.3(JAG1):c.1353dup (p.Asn452Ter) 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.1375C>T (p.Gln459Ter)
NM_000214.3(JAG1):c.1389C>T (p.Ser463=) rs147229008
NM_000214.3(JAG1):c.139_159del (p.Gly47_Asn53del)
NM_000214.3(JAG1):c.142G>T (p.Glu48Ter)
NM_000214.3(JAG1):c.1713dup (p.Cys572fs) 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.1856_1857del (p.Lys619fs)
NM_000214.3(JAG1):c.1914T>G (p.Cys638Trp) rs1261301855
NM_000214.3(JAG1):c.1977G>A (p.Trp659Ter)
NM_000214.3(JAG1):c.2073T>C (p.Cys691=) rs200648035
NM_000214.3(JAG1):c.2077T>C (p.Cys693Arg) rs1568794319
NM_000214.3(JAG1):c.2096_2100del rs886039393
NM_000214.3(JAG1):c.2113+5G>A rs886044704
NM_000214.3(JAG1):c.2118_2121CAGT[1] (p.Gln708fs) rs727504412
NM_000214.3(JAG1):c.2173dup (p.Asp725fs) rs1568794128
NM_000214.3(JAG1):c.2231G>A (p.Arg744Gln) rs147809756
NM_000214.3(JAG1):c.225C>A (p.Phe75Leu)
NM_000214.3(JAG1):c.2300C>T (p.Thr767Met) rs140330283
NM_000214.3(JAG1):c.2382C>T (p.Ser794=) rs56225585
NM_000214.3(JAG1):c.238A>T (p.Lys80Ter)
NM_000214.3(JAG1):c.2393T>A (p.Val798Glu) rs1308346607
NM_000214.3(JAG1):c.2418C>A (p.Cys806Ter) rs533306015
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.2503_2504TG[2] (p.Val836fs)
NM_000214.3(JAG1):c.2532T>A (p.Cys844Ter)
NM_000214.3(JAG1):c.2559C>T (p.Ala853=) rs201234393
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_2788delinsCCAGGGCA (p.Cys925fs) rs1555827769
NM_000214.3(JAG1):c.2778C>T (p.Phe926=) rs147793030
NM_000214.3(JAG1):c.2801G>A (p.Gly934Asp) rs1568792060
NM_000214.3(JAG1):c.2827C>T (p.Pro943Ser) rs760332763
NM_000214.3(JAG1):c.2840del (p.Lys947fs) rs1060501349
NM_000214.3(JAG1):c.2844C>A (p.Cys948Ter) rs1060501352
NM_000214.3(JAG1):c.2895dup (p.Asn966Ter) rs878853752
NM_000214.3(JAG1):c.294C>T (p.Ser98=) rs79338570
NM_000214.3(JAG1):c.2966dup (p.Leu989fs) rs1555827729
NM_000214.3(JAG1):c.3006C>A (p.Cys1002Ter) rs372984801
NM_000214.3(JAG1):c.3006C>T (p.Cys1002=)
NM_000214.3(JAG1):c.3008_3012dup (p.Pro1006fs)
NM_000214.3(JAG1):c.3039T>C (p.His1013=) rs770077297
NM_000214.3(JAG1):c.3164_3167del (p.Val1055fs) rs1555827653
NM_000214.3(JAG1):c.3281G>A (p.Arg1094Gln) rs139629694
NM_000214.3(JAG1):c.3346C>T (p.Arg1116Trp) rs377723772
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.Arg117fs) rs1555830929
NM_000214.3(JAG1):c.355C>T (p.Arg119Cys) rs1555830925
NM_000214.3(JAG1):c.388-19TTGT[2] rs750004416
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.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.700T>A (p.Cys234Ser) rs1555829415
NM_000214.3(JAG1):c.703C>T (p.Arg235Ter) rs876660980
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) rs1568798248
NM_000214.3(JAG1):c.886+5G>A rs1173329664
NM_000214.3(JAG1):c.910C>T (p.Gln304Ter) rs863223649
NM_000214.3(JAG1):c.924C>T (p.Asn308=) rs45575136
NM_000214.3(JAG1):c.932del (p.Thr311fs) rs1555829037

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.