ClinVar Miner

List of variants in gene JAG1 studied for Arteriohepatic dysplasia

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Total variants: 92
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HGVS dbSNP
NM_000214.3(JAG1):c.*1084G>C rs148175963
NM_000214.3(JAG1):c.*1093_*1097del rs886056509
NM_000214.3(JAG1):c.*1132T>G rs7828
NM_000214.3(JAG1):c.*1133_*1136del rs886056508
NM_000214.3(JAG1):c.*1206del rs34134142
NM_000214.3(JAG1):c.*1212_*1214del rs886056507
NM_000214.3(JAG1):c.*1224G>A rs886056506
NM_000214.3(JAG1):c.*1493A>G rs78471165
NM_000214.3(JAG1):c.*1511dup rs571057258
NM_000214.3(JAG1):c.*1531_*1532TG[1] rs765273169
NM_000214.3(JAG1):c.*1572A>G rs8708
NM_000214.3(JAG1):c.*1637A>G rs886056505
NM_000214.3(JAG1):c.*21C>T rs554327524
NM_000214.3(JAG1):c.*253C>T rs780887274
NM_000214.3(JAG1):c.*297C>T rs575525743
NM_000214.3(JAG1):c.*378T>G rs886056512
NM_000214.3(JAG1):c.*398T>C rs562655817
NM_000214.3(JAG1):c.*401C>T rs886056511
NM_000214.3(JAG1):c.*486del rs3842434
NM_000214.3(JAG1):c.*563_*565del rs139536676
NM_000214.3(JAG1):c.*619C>T rs146144464
NM_000214.3(JAG1):c.*641C>A rs866626696
NM_000214.3(JAG1):c.*644_*646AAT[1] rs572952606
NM_000214.3(JAG1):c.*6C>T rs376881523
NM_000214.3(JAG1):c.*756A>G rs45534738
NM_000214.3(JAG1):c.*856dup rs3840074
NM_000214.3(JAG1):c.*914G>A rs111277443
NM_000214.3(JAG1):c.*959_*962GTTT[2] rs748163677
NM_000214.3(JAG1):c.*970T>C rs886056510
NM_000214.3(JAG1):c.-105C>G rs886056515
NM_000214.3(JAG1):c.-129C>T rs886056516
NM_000214.3(JAG1):c.-27C>G rs886056513
NM_000214.3(JAG1):c.-299_-297AAG[1] rs147400796
NM_000214.3(JAG1):c.-364T>G rs886056517
NM_000214.3(JAG1):c.-375dup rs201660680
NM_000214.3(JAG1):c.-384T>G rs559044448
NM_000214.3(JAG1):c.-385T>G rs1051412
NM_000214.3(JAG1):c.-386dup rs886056519
NM_000214.3(JAG1):c.-42G>T rs374222937
NM_000214.3(JAG1):c.-433G>A rs73611723
NM_000214.3(JAG1):c.-482G>A rs886056520
NM_000214.3(JAG1):c.-483C>T rs867504722
NM_000214.3(JAG1):c.-507G>A rs747888489
NM_000214.3(JAG1):c.-514G>C rs533596136
NM_000214.3(JAG1):c.-528C>A rs191409481
NM_000214.3(JAG1):c.-73G>C rs886056514
NM_000214.3(JAG1):c.133G>T (p.Val45Leu) rs183974372
NM_000214.3(JAG1):c.1344C>T (p.Asp448=) rs754081766
NM_000214.3(JAG1):c.1349-11T>G rs80338240
NM_000214.3(JAG1):c.1439C>T (p.Ala480Val) rs149366993
NM_000214.3(JAG1):c.1578C>T (p.Ile526=) rs1801139
NM_000214.3(JAG1):c.1721-15A>G rs753524030
NM_000214.3(JAG1):c.1826C>T (p.Ser609Leu) rs199505265
NM_000214.3(JAG1):c.1920C>T (p.Asn640=) rs372121353
NM_000214.3(JAG1):c.2073T>C (p.Cys691=) rs200648035
NM_000214.3(JAG1):c.2199C>T (p.Gly733=) rs756062969
NM_000214.3(JAG1):c.2214A>C (p.Thr738=) rs1801140
NM_000214.3(JAG1):c.2231G>A (p.Arg744Gln) rs147809756
NM_000214.3(JAG1):c.2300C>T (p.Thr767Met) rs140330283
NM_000214.3(JAG1):c.2329C>T (p.Pro777Ser) rs202063628
NM_000214.3(JAG1):c.2344+15C>G rs200139177
NM_000214.3(JAG1):c.2382C>T (p.Ser794=) rs56225585
NM_000214.3(JAG1):c.2590A>G (p.Ile864Val) rs142742183
NM_000214.3(JAG1):c.2612C>G (p.Pro871Arg) rs35761929
NM_000214.3(JAG1):c.267G>A (p.Gly89=) rs1051415
NM_000214.3(JAG1):c.270G>T (p.Gly90=) rs114048678
NM_000214.3(JAG1):c.2766C>T (p.Asp922=) rs2229895
NM_000214.3(JAG1):c.2810G>A (p.Arg937Gln) rs145895196
NM_000214.3(JAG1):c.282C>T (p.Phe94=) rs772592163
NM_000214.3(JAG1):c.2917-7G>A rs201573066
NM_000214.3(JAG1):c.294C>T (p.Ser98=) rs79338570
NM_000214.3(JAG1):c.3007_3013dup (p.Ser1005Ter) rs1568791694
NM_000214.3(JAG1):c.3166_3167AG[1] (p.Arg1056fs) rs1555827650
NM_000214.3(JAG1):c.3297G>A (p.Pro1099=) rs748849177
NM_000214.3(JAG1):c.3329A>C (p.Asn1110Thr) rs150811951
NM_000214.3(JAG1):c.3343G>A (p.Val1115Met) rs148373907
NM_000214.3(JAG1):c.3417T>C (p.Tyr1139=) rs1051419
NM_000214.3(JAG1):c.3521C>T (p.Pro1174Leu) rs775363555
NM_000214.3(JAG1):c.3528C>T (p.Tyr1176=) rs1051421
NM_000214.3(JAG1):c.3555C>T (p.Pro1185=) rs142017684
NM_000214.3(JAG1):c.3570G>A (p.Pro1190=) rs201572666
NM_000214.3(JAG1):c.388-4G>C rs567027490
NM_000214.3(JAG1):c.436G>A (p.Val146Ile) rs6040067
NM_000214.3(JAG1):c.440-15T>C rs2273060
NM_000214.3(JAG1):c.526G>A (p.Val176Ile) rs199674138
NM_000214.3(JAG1):c.588C>T (p.Cys196=) rs1801138
NM_000214.3(JAG1):c.744A>G (p.Pro248=) rs10485741
NM_000214.3(JAG1):c.756-14C>T rs757351921
NM_000214.3(JAG1):c.765C>T (p.Tyr255=) rs1131695
NM_000214.3(JAG1):c.894T>C (p.Asn298=) rs149897344
NM_000214.3(JAG1):c.909T>C (p.His303=) rs139574260
NM_000214.3(JAG1):c.924C>T (p.Asn308=) rs45575136

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