ClinVar Miner

List of variants in gene JAG1 reported as benign by Breakthrough Genomics, Breakthrough Genomics

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Gene type:
ClinVar version:
Total variants: 45
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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.*1572A>G rs8708 0.55702
NM_000214.3(JAG1):c.-385T>G rs1051412 0.55267
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.2458+236T>C rs889509 0.36136
NM_000214.3(JAG1):c.*1132T>G rs7828 0.26933
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.3199+126T>G rs6074164 0.14552
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.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
NM_000214.3(JAG1):c.744A>G (p.Pro248=) rs10485741 0.06845
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.924C>T (p.Asn308=) rs45575136 0.02472
NM_000214.3(JAG1):c.388-149C>T rs74464347 0.02187
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.2345-76A>G rs114405662 0.00540
NM_000214.3(JAG1):c.1721-21G>A rs35357944 0.00396
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.2228-68G>A rs371437476 0.00049
NM_000214.3(JAG1):c.1569+68T>G rs34325313
NM_000214.3(JAG1):c.1570-73C>G rs56039205

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