ClinVar Miner

List of variants in gene NOD2 studied for Blau syndrome

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 228
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HGVS dbSNP
NM_022162.3(NOD2):c.*1023C>T rs5743299
NM_022162.3(NOD2):c.*1156G>A rs3135500
NM_022162.3(NOD2):c.*1201T>A rs751525993
NM_022162.3(NOD2):c.*186C>G rs886052045
NM_022162.3(NOD2):c.*325G>A rs886052046
NM_022162.3(NOD2):c.*329_*334dup rs886052047
NM_022162.3(NOD2):c.*382C>T rs535063121
NM_022162.3(NOD2):c.*394C>T rs886052048
NM_022162.3(NOD2):c.*397A>C rs3135499
NM_022162.3(NOD2):c.*422C>G rs886052049
NM_022162.3(NOD2):c.*462C>A rs562972090
NM_022162.3(NOD2):c.*470C>T rs770461687
NM_022162.3(NOD2):c.*521C>T rs5743297
NM_022162.3(NOD2):c.*620G>A rs116213743
NM_022162.3(NOD2):c.*873C>T rs373812846
NM_022162.3(NOD2):c.*877C>A rs140643942
NM_022162.3(NOD2):c.*89C>T rs184545855
NM_022162.3(NOD2):c.*990T>C rs192842874
NM_022162.3(NOD2):c.*9G>A rs104895459
NM_022162.3(NOD2):c.-14C>T rs117611225
NM_022162.3(NOD2):c.-53C>T rs188341692
NM_022162.3(NOD2):c.-58T>C rs139485985
NM_022162.3(NOD2):c.-59G>A rs2076752
NM_022162.3(NOD2):c.-96del rs5743265
NM_022162.3(NOD2):c.1000C>T (p.Arg334Trp) rs104895462
NM_022162.3(NOD2):c.1001G>A (p.Arg334Gln) rs104895461
NM_022162.3(NOD2):c.1019C>G (p.Ala340Gly)
NM_022162.3(NOD2):c.1028T>C (p.Leu343Pro) rs369732140
NM_022162.3(NOD2):c.103C>T (p.Gln35Ter) rs1567380372
NM_022162.3(NOD2):c.1042C>G (p.Leu348Val) rs104895428
NM_022162.3(NOD2):c.1065G>A (p.Trp355Ter) rs104895488
NM_022162.3(NOD2):c.1070A>C (p.Asp357Ala) rs104895469
NM_022162.3(NOD2):c.1087A>T (p.Ile363Phe) rs104895470
NM_022162.3(NOD2):c.1117C>T (p.Arg373Cys) rs145293873
NM_022162.3(NOD2):c.113G>T (p.Arg38Met) rs104895487
NM_022162.3(NOD2):c.1146C>G (p.Asp382Glu) rs104895476
NM_022162.3(NOD2):c.1147G>A (p.Glu383Lys) rs104895477
NM_022162.3(NOD2):c.1148A>G (p.Glu383Gly) rs104895493
NM_022162.3(NOD2):c.1151T>A (p.Phe384Tyr) rs777343284
NM_022162.3(NOD2):c.1171C>T (p.Arg391Cys) rs104895481
NM_022162.3(NOD2):c.1172G>A (p.Arg391His) rs554887705
NM_022162.3(NOD2):c.1178G>A (p.Arg393His) rs140918872
NM_022162.3(NOD2):c.1190C>T (p.Pro397Leu) rs150078153
NM_022162.3(NOD2):c.1241A>G (p.Asn414Ser) rs104895429
NM_022162.3(NOD2):c.1269G>T (p.Val423=) rs77966199
NM_022162.3(NOD2):c.1271C>A (p.Thr424Asn)
NM_022162.3(NOD2):c.1277G>A (p.Arg426His) rs562225614
NM_022162.3(NOD2):c.1279C>T (p.Pro427Ser) rs760982375
NM_022162.3(NOD2):c.127G>A (p.Glu43Lys) rs200089552
NM_022162.3(NOD2):c.1280C>T (p.Pro427Leu) rs766651775
NM_022162.3(NOD2):c.1281G>A (p.Pro427=) rs104895430
NM_022162.3(NOD2):c.1292C>T (p.Ser431Leu) rs104895431
NM_022162.3(NOD2):c.1295C>T (p.Ala432Val)
NM_022162.3(NOD2):c.1316G>A (p.Arg439His) rs143110172
NM_022162.3(NOD2):c.131T>A (p.Leu44Gln)
NM_022162.3(NOD2):c.1321G>A (p.Glu441Lys) rs104895432
NM_022162.3(NOD2):c.1366C>T (p.Leu456=) rs104895433
NM_022162.3(NOD2):c.1377C>T (p.Arg459=) rs2066843
NM_022162.3(NOD2):c.1387C>G (p.Pro463Ala) rs104895482
NM_022162.3(NOD2):c.1390G>T (p.Gly464Trp) rs104895492
NM_022162.3(NOD2):c.1402C>A (p.Arg468Ser) rs769988393
NM_022162.3(NOD2):c.1405C>T (p.Leu469Phe) rs104895460
NM_022162.3(NOD2):c.140C>T (p.Ser47Leu) rs201586544
NM_022162.3(NOD2):c.1411C>T (p.Arg471Cys) rs1078327
NM_022162.3(NOD2):c.1427C>A (p.Thr476Asn) rs1567392113
NM_022162.3(NOD2):c.1442G>A (p.Gly481Asp) rs104895494
NM_022162.3(NOD2):c.1469G>T (p.Trp490Leu) rs104895480
NM_022162.3(NOD2):c.1484G>A (p.Cys495Tyr) rs104895478
NM_022162.3(NOD2):c.1487A>T (p.His496Leu) rs104895472
NM_022162.3(NOD2):c.1494A>C (p.Glu498Asp) rs1361409611
NM_022162.3(NOD2):c.1509G>A (p.Glu503=) rs104895434
NM_022162.3(NOD2):c.1515del (p.Ser506fs) rs754761524
NM_022162.3(NOD2):c.1515dup (p.Ser506fs) rs754761524
NM_022162.3(NOD2):c.1531A>G (p.Thr511Ala)
NM_022162.3(NOD2):c.1538T>C (p.Met513Thr) rs104895473
NM_022162.3(NOD2):c.1540T>C (p.Tyr514His) rs540122692
NM_022162.3(NOD2):c.1573G>A (p.Ala525Thr) rs1283801598
NM_022162.3(NOD2):c.1581C>G (p.Pro527=) rs104895435
NM_022162.3(NOD2):c.1583dup (p.Asp529fs) rs754073471
NM_022162.3(NOD2):c.1603C>T (p.Leu535=) rs145190613
NM_022162.3(NOD2):c.1610C>A (p.Pro537His) rs1567392735
NM_022162.3(NOD2):c.1628G>A (p.Arg543His) rs772534917
NM_022162.3(NOD2):c.1634C>T (p.Pro545Leu) rs777949388
NM_022162.3(NOD2):c.1648C>G (p.Leu550Val) rs104895471
NM_022162.3(NOD2):c.1672_1677del (p.Leu558_Gly559del) rs104895436
NM_022162.3(NOD2):c.1689C>T (p.Tyr563=) rs111608429
NM_022162.3(NOD2):c.1759C>T (p.Arg587Cys) rs104895479
NM_022162.3(NOD2):c.1760G>A (p.Arg587His) rs373185098
NM_022162.3(NOD2):c.1761T>G (p.Arg587=) rs1861759
NM_022162.3(NOD2):c.1787C>T (p.Thr596Met)
NM_022162.3(NOD2):c.1788G>A (p.Thr596=) rs104895437
NM_022162.3(NOD2):c.1813A>C (p.Thr605Pro) rs104895474
NM_022162.3(NOD2):c.1826T>G (p.Phe609Cys)
NM_022162.3(NOD2):c.1833C>T (p.Ala611=) rs61736932
NM_022162.3(NOD2):c.1834G>A (p.Ala612Thr) rs104895438
NM_022162.3(NOD2):c.1834G>T (p.Ala612Ser) rs104895438
NM_022162.3(NOD2):c.1835C>T (p.Ala612Val) rs104895439
NM_022162.3(NOD2):c.1839C>T (p.Phe613=) rs149870902
NM_022162.3(NOD2):c.1856C>T (p.Ala619Val) rs867131858
NM_022162.3(NOD2):c.1969A>G (p.Ser657Gly) rs150236752
NM_022162.3(NOD2):c.1981G>C (p.Ala661Pro) rs369957746
NM_022162.3(NOD2):c.2003C>T (p.Pro668Leu) rs5743275
NM_022162.3(NOD2):c.200C>G (p.Ser67Cys)
NM_022162.3(NOD2):c.2010C>A (p.Asn670Lys) rs104895475
NM_022162.3(NOD2):c.2010C>G (p.Asn670Lys) rs104895475
NM_022162.3(NOD2):c.2032del (p.Leu678fs)
NM_022162.3(NOD2):c.2038G>A (p.Gly680Arg) rs371339573
NM_022162.3(NOD2):c.2046G>T (p.Leu682Phe) rs149002807
NM_022162.3(NOD2):c.2050C>T (p.Arg684Trp) rs5743276
NM_022162.3(NOD2):c.2104C>T (p.Arg702Trp) rs2066844
NM_022162.3(NOD2):c.2107C>T (p.Arg703Cys) rs5743277
NM_022162.3(NOD2):c.2123G>A (p.Arg708His) rs35285618
NM_022162.3(NOD2):c.2137C>T (p.Arg713Cys) rs104895440
NM_022162.3(NOD2):c.2138G>A (p.Arg713His) rs104895483
NM_022162.3(NOD2):c.2147G>A (p.Arg716His) rs200035357
NM_022162.3(NOD2):c.2168C>T (p.Pro723Leu)
NM_022162.3(NOD2):c.2174C>G (p.Ala725Gly) rs5743278
NM_022162.3(NOD2):c.2180C>T (p.Pro727Leu) rs104895489
NM_022162.3(NOD2):c.2220C>T (p.Ile740=) rs104895441
NM_022162.3(NOD2):c.2230C>T (p.Arg744Trp)
NM_022162.3(NOD2):c.2242G>A (p.Glu748Lys)
NM_022162.3(NOD2):c.2264C>T (p.Ala755Val) rs61747625
NM_022162.3(NOD2):c.2266C>T (p.Arg756Trp) rs376201089
NM_022162.3(NOD2):c.2267G>A (p.Arg756Gln) rs375713299
NM_022162.3(NOD2):c.2273C>T (p.Ala758Val) rs104895442
NM_022162.3(NOD2):c.2278C>T (p.Arg760Cys)
NM_022162.3(NOD2):c.2279G>A (p.Arg760His) rs763955590
NM_022162.3(NOD2):c.2330C>A (p.Thr777Asn) rs756184386
NM_022162.3(NOD2):c.2332G>A (p.Glu778Lys) rs104895443
NM_022162.3(NOD2):c.2365C>T (p.Leu789Phe) rs773758818
NM_022162.3(NOD2):c.2371C>T (p.Arg791Trp) rs104895484
NM_022162.3(NOD2):c.2372G>A (p.Arg791Gln) rs104895464
NM_022162.3(NOD2):c.2377G>A (p.Val793Met) rs104895444
NM_022162.3(NOD2):c.2406G>T (p.Val802=) rs104895495
NM_022162.3(NOD2):c.2419G>A (p.Val807Met) rs748522514
NM_022162.3(NOD2):c.2434C>T (p.Pro812Ser)
NM_022162.3(NOD2):c.2462+10A>C rs72796353
NM_022162.3(NOD2):c.2463-9T>A rs201759367
NM_022162.3(NOD2):c.2471A>G (p.Asp824Gly)
NM_022162.3(NOD2):c.2475C>G (p.Asn825Lys) rs104895485
NM_022162.3(NOD2):c.2489G>A (p.Arg830Gln) rs770915641
NM_022162.3(NOD2):c.2494A>G (p.Ile832Val) rs765335094
NM_022162.3(NOD2):c.2527G>A (p.Glu843Lys) rs104895445
NM_022162.3(NOD2):c.2546C>T (p.Ala849Val) rs104895486
NM_022162.3(NOD2):c.2547-11G>T rs5743285
NM_022162.3(NOD2):c.2555A>G (p.Asn852Ser) rs104895467
NM_022162.3(NOD2):c.2558A>G (p.Asn853Ser) rs104895446
NM_022162.3(NOD2):c.2578G>A (p.Ala860Thr)
NM_022162.3(NOD2):c.2587A>G (p.Met863Val) rs104895447
NM_022162.3(NOD2):c.259C>T (p.Arg87Cys) rs374128251
NM_022162.3(NOD2):c.2619C>T (p.Phe873=) rs104895448
NM_022162.3(NOD2):c.2630+35T>A rs104895449
NM_022162.3(NOD2):c.2631-5T>C rs104895450
NM_022162.3(NOD2):c.2632C>T (p.Leu878=) rs886052044
NM_022162.3(NOD2):c.2658G>A (p.Ala886=) rs1417676866
NM_022162.3(NOD2):c.2699C>T (p.Ser900Phe) rs199552944
NM_022162.3(NOD2):c.2704C>A (p.Gln902Lys) rs201035873
NM_022162.3(NOD2):c.2712G>A (p.Leu904=) rs142559533
NM_022162.3(NOD2):c.2715-75G>A rs104895466
NM_022162.3(NOD2):c.2715-81G>A rs104895465
NM_022162.3(NOD2):c.2719T>C (p.Trp907Arg) rs104895490
NM_022162.3(NOD2):c.2722G>C (p.Gly908Arg) rs2066845
NM_022162.3(NOD2):c.2733G>A (p.Val911=) rs1359941511
NM_022162.3(NOD2):c.2739C>T (p.Asp913=) rs104895451
NM_022162.3(NOD2):c.2740G>A (p.Glu914Lys) rs758913334
NM_022162.3(NOD2):c.274G>A (p.Val92Ile) rs187264529
NM_022162.3(NOD2):c.274G>T (p.Val92Phe)
NM_022162.3(NOD2):c.2753C>A (p.Ala918Asp) rs104895452
NM_022162.3(NOD2):c.2771G>A (p.Gly924Asp) rs104895453
NM_022162.3(NOD2):c.2774A>G (p.Asp925Gly) rs545734771
NM_022162.3(NOD2):c.2798+158C>T rs5743289
NM_022162.3(NOD2):c.279G>A (p.Trp93Ter) rs761449474
NM_022162.3(NOD2):c.2815A>G (p.Ile939Val)
NM_022162.3(NOD2):c.2817T>C (p.Ile939=) rs104895454
NM_022162.3(NOD2):c.2863G>A (p.Val955Ile) rs5743291
NM_022162.3(NOD2):c.2883-9T>A rs750873269
NM_022162.3(NOD2):c.2888A>G (p.Glu963Gly) rs1555501675
NM_022162.3(NOD2):c.2914G>A (p.Val972Ile) rs104895455
NM_022162.3(NOD2):c.2921C>T (p.Ser974Phe) rs200463498
NM_022162.3(NOD2):c.2923C>G (p.Leu975Val)
NM_022162.3(NOD2):c.2925C>T (p.Leu975=) rs104895463
NM_022162.3(NOD2):c.2926G>A (p.Ala976Thr) rs148561632
NM_022162.3(NOD2):c.2933G>A (p.Gly978Glu) rs104895457
NM_022162.3(NOD2):c.2996G>C (p.Gly999Ala)
NM_022162.3(NOD2):c.2998G>A (p.Ala1000Thr)
NM_022162.3(NOD2):c.2T>C (p.Met1Thr) rs765406921
NM_022162.3(NOD2):c.3019dup (p.Leu1007fs) rs2066847
NM_022162.3(NOD2):c.3051-102C>G rs104895458
NM_022162.3(NOD2):c.3055C>T (p.Arg1019Ter) rs104895491
NM_022162.3(NOD2):c.3094G>A (p.Gly1032Ser) rs147874812
NM_022162.3(NOD2):c.314C>T (p.Ala105Val) rs202052365
NM_022162.3(NOD2):c.315G>A (p.Ala105=) rs104895419
NM_022162.3(NOD2):c.337G>A (p.Asp113Asn) rs104895468
NM_022162.3(NOD2):c.357G>T (p.Leu119=) rs672601267
NM_022162.3(NOD2):c.404_405AG[1] (p.His137fs) rs1567381106
NM_022162.3(NOD2):c.413G>A (p.Arg138Gln) rs104895456
NM_022162.3(NOD2):c.460G>A (p.Asp154Asn) rs146054564
NM_022162.3(NOD2):c.469T>C (p.Trp157Arg) rs104895420
NM_022162.3(NOD2):c.476G>A (p.Arg159Gln) rs150996156
NM_022162.3(NOD2):c.484G>A (p.Val162Ile) rs139571975
NM_022162.3(NOD2):c.52G>A (p.Val18Ile) rs886052043
NM_022162.3(NOD2):c.531G>A (p.Pro177=) rs775281342
NM_022162.3(NOD2):c.534C>G (p.Ser178=) rs2067085
NM_022162.3(NOD2):c.541-3T>C rs141833420
NM_022162.3(NOD2):c.61G>A (p.Gly21Arg)
NM_022162.3(NOD2):c.625C>T (p.Pro209Ser) rs143080077
NM_022162.3(NOD2):c.633C>T (p.Ala211=) rs5743269
NM_022162.3(NOD2):c.646+15T>C rs765487015
NM_022162.3(NOD2):c.698A>C (p.Gln233Pro) rs369098290
NM_022162.3(NOD2):c.703C>T (p.Arg235Cys) rs104895422
NM_022162.3(NOD2):c.712A>T (p.Ser238Cys) rs1001861018
NM_022162.3(NOD2):c.719A>G (p.Tyr240Cys)
NM_022162.3(NOD2):c.734C>T (p.Thr245Met) rs148516118
NM_022162.3(NOD2):c.74-7T>A rs104895421
NM_022162.3(NOD2):c.743T>G (p.Leu248Arg) rs104895423
NM_022162.3(NOD2):c.746A>G (p.Glu249Gly) rs117836686
NM_022162.3(NOD2):c.7G>C (p.Glu3Gln) rs976567823
NM_022162.3(NOD2):c.802C>T (p.Pro268Ser) rs2066842
NM_022162.3(NOD2):c.807G>A (p.Pro269=) rs369766454
NM_022162.3(NOD2):c.828G>A (p.Leu276=) rs763504952
NM_022162.3(NOD2):c.82A>G (p.Met28Val)
NM_022162.3(NOD2):c.841C>T (p.Leu281Phe) rs756943416
NM_022162.3(NOD2):c.859C>T (p.His287Tyr) rs560242309
NM_022162.3(NOD2):c.871G>A (p.Asp291Asn) rs104895424
NM_022162.3(NOD2):c.875C>T (p.Ala292Val) rs149338478
NM_022162.3(NOD2):c.881C>G (p.Thr294Ser) rs104895425
NM_022162.3(NOD2):c.902C>T (p.Ala301Val) rs104895426
NM_022162.3(NOD2):c.931C>T (p.Arg311Trp) rs104895427

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