ClinVar Miner

List of variants in gene NOD2 studied for Blau syndrome

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Gene type:
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Total variants: 181
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HGVS dbSNP gnomAD frequency
NM_001370466.1(NOD2):c.453C>G (p.Ser151=) rs2067085 0.35090
NM_001370466.1(NOD2):c.1680T>G (p.Arg560=) rs1861759 0.32445
NM_001370466.1(NOD2):c.-8-2303G>A rs2076752 0.21018
NM_001370466.1(NOD2):c.721C>T (p.Pro241Ser) rs2066842 0.17968
NM_001370466.1(NOD2):c.1296C>T (p.Arg432=) rs2066843 0.17266
NM_001370466.1(NOD2):c.2717+158C>T rs5743289 0.10180
NM_001370466.1(NOD2):c.2782G>A (p.Val928Ile) rs5743291 0.06122
NM_001370466.1(NOD2):c.2023C>T (p.Arg675Trp) rs2066844 0.02936
NM_001370466.1(NOD2):c.2381+10A>C rs72796353 0.01447
NM_001370466.1(NOD2):c.2093C>G (p.Ala698Gly) rs5743278 0.01319
NM_001370466.1(NOD2):c.1752C>T (p.Ala584=) rs61736932 0.00840
NM_001370466.1(NOD2):c.460-3T>C rs141833420 0.00836
NM_001370466.1(NOD2):c.-8-2340del rs5743265 0.00779
NM_001370466.1(NOD2):c.337G>A (p.Ala113Thr) rs34684955 0.00726
NM_001370466.1(NOD2):c.2042G>A (p.Arg681His) rs35285618 0.00681
NM_001370466.1(NOD2):c.785A>G (p.Asn262Ser) rs5743271 0.00557
NM_001370466.1(NOD2):c.2466-11G>T rs5743285 0.00402
NM_001370466.1(NOD2):c.2026C>T (p.Arg676Cys) rs5743277 0.00340
NM_001370466.1(NOD2):c.2183C>T (p.Ala728Val) rs61747625 0.00307
NM_001370466.1(NOD2):c.485C>T (p.Thr162Met) rs61755182 0.00291
NM_001370466.1(NOD2):c.1188G>T (p.Val396=) rs77966199 0.00273
NM_001370466.1(NOD2):c.-8-2302T>C rs139485985 0.00167
NM_001370466.1(NOD2):c.2325G>T (p.Val775=) rs104895495 0.00157
NM_001370466.1(NOD2):c.800C>G (p.Thr267Ser) rs104895425 0.00152
NM_001370466.1(NOD2):c.2291G>A (p.Arg764Gln) rs104895464 0.00137
NM_001370466.1(NOD2):c.2296G>A (p.Val766Met) rs104895444 0.00127
NM_001370466.1(NOD2):c.1211C>T (p.Ser404Leu) rs104895431 0.00103
NM_001370466.1(NOD2):c.-8-7T>A rs104895421 0.00092
NM_001370466.1(NOD2):c.552C>T (p.Ala184=) rs5743269 0.00090
NM_001370466.1(NOD2):c.1707G>A (p.Thr569=) rs104895437 0.00086
NM_001370466.1(NOD2):c.2474A>G (p.Asn825Ser) rs104895467 0.00076
NM_001370466.1(NOD2):c.2506A>G (p.Met836Val) rs104895447 0.00073
NM_001370466.1(NOD2):c.379G>A (p.Asp127Asn) rs146054564 0.00068
NM_001370466.1(NOD2):c.1330C>T (p.Arg444Cys) rs1078327 0.00057
NM_001370466.1(NOD2):c.2057G>A (p.Arg686His) rs104895483 0.00055
NM_001370466.1(NOD2):c.2672C>A (p.Ala891Asp) rs104895452 0.00051
NM_001370466.1(NOD2):c.850C>T (p.Arg284Trp) rs104895427 0.00051
NM_001370466.1(NOD2):c.193G>A (p.Val65Ile) rs187264529 0.00048
NM_001370466.1(NOD2):c.1240G>A (p.Glu414Lys) rs104895432 0.00034
NM_001370466.1(NOD2):c.-8-2297C>T rs188341692 0.00032
NM_001370466.1(NOD2):c.1969C>T (p.Arg657Trp) rs5743276 0.00032
NM_001370466.1(NOD2):c.760C>T (p.Leu254Phe) rs756943416 0.00027
NM_001370466.1(NOD2):c.662T>G (p.Leu221Arg) rs104895423 0.00026
NM_001370466.1(NOD2):c.1922C>T (p.Pro641Leu) rs5743275 0.00024
NM_001370466.1(NOD2):c.989A>C (p.Asp330Ala) rs104895469 0.00024
NM_001370466.1(NOD2):c.2623C>A (p.Gln875Lys) rs201035873 0.00023
NM_001370466.1(NOD2):c.1235G>A (p.Arg412His) rs143110172 0.00022
NM_001370466.1(NOD2):c.1036C>T (p.Arg346Cys) rs145293873 0.00021
NM_001370466.1(NOD2):c.1109C>T (p.Pro370Leu) rs150078153 0.00021
NM_001370466.1(NOD2):c.2251G>A (p.Glu751Lys) rs104895443 0.00020
NM_001370466.1(NOD2):c.1200G>A (p.Pro400=) rs104895430 0.00019
NM_001370466.1(NOD2):c.2066G>A (p.Arg689His) rs200035357 0.00018
NM_001370466.1(NOD2):c.59C>T (p.Ser20Leu) rs201586544 0.00018
NM_001370466.1(NOD2):c.1522C>T (p.Leu508=) rs145190613 0.00016
NM_001370466.1(NOD2):c.1758C>T (p.Phe586=) rs149870902 0.00016
NM_001370466.1(NOD2):c.450G>A (p.Pro150=) rs775281342 0.00016
NM_001370466.1(NOD2):c.2149C>T (p.Arg717Trp) rs140876663 0.00014
NM_001370466.1(NOD2):c.2845G>A (p.Ala949Thr) rs148561632 0.00014
NM_001370466.1(NOD2):c.794C>T (p.Ala265Val) rs149338478 0.00014
NM_001370466.1(NOD2):c.2781C>T (p.Asn927=) rs758223679 0.00013
NM_001370466.1(NOD2):c.622C>T (p.Arg208Cys) rs104895422 0.00013
NM_001370466.1(NOD2):c.232G>A (p.Ala78Thr) rs113706344 0.00012
NM_001370466.1(NOD2):c.2087C>T (p.Pro696Leu) rs201076024 0.00011
NM_001370466.1(NOD2):c.2382-9T>A rs201759367 0.00011
NM_001370466.1(NOD2):c.565+15T>C rs765487015 0.00011
NM_001370466.1(NOD2):c.1608C>T (p.Tyr536=) rs111608429 0.00010
NM_001370466.1(NOD2):c.2099C>T (p.Pro700Leu) rs104895489 0.00010
NM_001370466.1(NOD2):c.234G>A (p.Ala78=) rs104895419 0.00010
NM_001370466.1(NOD2):c.332G>A (p.Arg111Gln) rs104895456 0.00010
NM_001370466.1(NOD2):c.1965G>T (p.Leu655Phe) rs149002807 0.00009
NM_001370466.1(NOD2):c.1745T>G (p.Phe582Cys) rs777798807 0.00008
NM_001370466.1(NOD2):c.2290C>T (p.Arg764Trp) rs104895484 0.00008
NM_001370466.1(NOD2):c.2446G>A (p.Glu816Lys) rs104895445 0.00008
NM_001370466.1(NOD2):c.2690G>A (p.Gly897Asp) rs104895453 0.00006
NM_001370466.1(NOD2):c.388T>C (p.Trp130Arg) rs104895420 0.00006
NM_001370466.1(NOD2):c.778C>T (p.His260Tyr) rs560242309 0.00006
NM_001370466.1(NOD2):c.403G>A (p.Val135Ile) rs139571975 0.00005
NM_001370466.1(NOD2):c.789C>T (p.Asp263=) rs749180535 0.00005
NM_001370466.1(NOD2):c.-8-2258C>T rs117611225 0.00004
NM_001370466.1(NOD2):c.1198C>T (p.Pro400Ser) rs760982375 0.00004
NM_001370466.1(NOD2):c.1706C>T (p.Thr569Met) rs142077546 0.00004
NM_001370466.1(NOD2):c.1894G>A (p.Val632Met) rs570167996 0.00004
NM_001370466.1(NOD2):c.2284C>T (p.Leu762Phe) rs773758818 0.00004
NM_001370466.1(NOD2):c.2408G>A (p.Arg803Gln) rs770915641 0.00004
NM_001370466.1(NOD2):c.2631G>A (p.Leu877=) rs142559533 0.00004
NM_001370466.1(NOD2):c.2736T>C (p.Ile912=) rs104895454 0.00004
NM_001370466.1(NOD2):c.2844C>T (p.Leu948=) rs104895463 0.00004
NM_001370466.1(NOD2):c.2852G>A (p.Gly951Glu) rs104895457 0.00004
NM_001370466.1(NOD2):c.32G>T (p.Arg11Met) rs104895487 0.00004
NM_001370466.1(NOD2):c.509C>A (p.Ala170Asp) rs373838219 0.00004
NM_001370466.1(NOD2):c.605C>T (p.Thr202Met) rs529640892 0.00004
NM_001370466.1(NOD2):c.653C>T (p.Thr218Met) rs148516118 0.00004
NM_001370466.1(NOD2):c.821C>T (p.Ala274Val) rs104895426 0.00004
NM_001370466.1(NOD2):c.1678C>T (p.Arg560Cys) rs104895479 0.00003
NM_001370466.1(NOD2):c.2465+1G>A rs373550987 0.00003
NM_001370466.1(NOD2):c.2465C>T (p.Ala822Val) rs104895486 0.00003
NM_001370466.1(NOD2):c.247G>A (p.Ala83Thr) rs571102620 0.00003
NM_001370466.1(NOD2):c.256G>A (p.Asp86Asn) rs104895468 0.00003
NM_001370466.1(NOD2):c.2658C>T (p.Asp886=) rs104895451 0.00003
NM_001370466.1(NOD2):c.726G>A (p.Pro242=) rs369766454 0.00003
NM_001370466.1(NOD2):c.133G>A (p.Glu45Lys) rs760069458 0.00002
NM_001370466.1(NOD2):c.1754C>T (p.Ala585Val) rs104895439 0.00002
NM_001370466.1(NOD2):c.2056C>T (p.Arg686Cys) rs104895440 0.00002
NM_001370466.1(NOD2):c.2298G>A (p.Val766=) rs534738790 0.00002
NM_001370466.1(NOD2):c.2802-2A>G rs564226539 0.00002
NM_001370466.1(NOD2):c.790G>A (p.Asp264Asn) rs104895424 0.00002
NM_001370466.1(NOD2):c.1006A>T (p.Ile336Phe) rs104895470 0.00001
NM_001370466.1(NOD2):c.1090C>T (p.Arg364Cys) rs104895481 0.00001
NM_001370466.1(NOD2):c.1091G>A (p.Arg364His) rs554887705 0.00001
NM_001370466.1(NOD2):c.118T>C (p.Ser40Pro) rs760962549 0.00001
NM_001370466.1(NOD2):c.1428G>A (p.Glu476=) rs104895434 0.00001
NM_001370466.1(NOD2):c.1500C>G (p.Pro500=) rs104895435 0.00001
NM_001370466.1(NOD2):c.1900G>C (p.Ala634Pro) rs369957746 0.00001
NM_001370466.1(NOD2):c.198G>A (p.Trp66Ter) rs761449474 0.00001
NM_001370466.1(NOD2):c.2046G>A (p.Trp682Ter) rs776701942 0.00001
NM_001370466.1(NOD2):c.2192C>T (p.Ala731Val) rs104895442 0.00001
NM_001370466.1(NOD2):c.22C>T (p.Gln8Ter) rs1567380372 0.00001
NM_001370466.1(NOD2):c.2634-75G>A rs104895466 0.00001
NM_001370466.1(NOD2):c.2659G>A (p.Glu887Lys) rs758913334 0.00001
NM_001370466.1(NOD2):c.435G>C (p.Leu145Phe) rs1292846110 0.00001
NM_001370466.1(NOD2):c.-8-2193G>A rs886052043
NM_001370466.1(NOD2):c.-8-2202A>G rs1963694151
NM_001370466.1(NOD2):c.-8-2532G>T
NM_001370466.1(NOD2):c.1065C>G (p.Asp355Glu) rs104895476
NM_001370466.1(NOD2):c.1066G>A (p.Glu356Lys) rs104895477
NM_001370466.1(NOD2):c.1067A>G (p.Glu356Gly) rs104895493
NM_001370466.1(NOD2):c.1160A>G (p.Asn387Ser) rs104895429
NM_001370466.1(NOD2):c.1188G>A (p.Val396=) rs77966199
NM_001370466.1(NOD2):c.1285C>T (p.Leu429=) rs104895433
NM_001370466.1(NOD2):c.1306C>G (p.Pro436Ala) rs104895482
NM_001370466.1(NOD2):c.1309G>T (p.Gly437Trp) rs104895492
NM_001370466.1(NOD2):c.1324C>T (p.Leu442Phe) rs104895460
NM_001370466.1(NOD2):c.1361G>A (p.Gly454Asp) rs104895494
NM_001370466.1(NOD2):c.1388G>T (p.Trp463Leu) rs104895480
NM_001370466.1(NOD2):c.1390A>C (p.Met464Leu) rs2150810705
NM_001370466.1(NOD2):c.139T>C (p.Phe47Leu)
NM_001370466.1(NOD2):c.1403G>A (p.Cys468Tyr) rs104895478
NM_001370466.1(NOD2):c.1406A>T (p.His469Leu) rs104895472
NM_001370466.1(NOD2):c.1411G>A (p.Glu471Lys)
NM_001370466.1(NOD2):c.1457T>C (p.Met486Thr) rs104895473
NM_001370466.1(NOD2):c.1502dup (p.Asp502fs) rs754073471
NM_001370466.1(NOD2):c.1510G>T (p.Ala504Ser) rs1328584012
NM_001370466.1(NOD2):c.1553C>T (p.Pro518Leu) rs777949388
NM_001370466.1(NOD2):c.1567C>G (p.Leu523Val) rs104895471
NM_001370466.1(NOD2):c.1579del (p.Ala527fs) rs2150811580
NM_001370466.1(NOD2):c.1591_1596del (p.Leu531_Gly532del) rs104895436
NM_001370466.1(NOD2):c.1732A>C (p.Thr578Pro) rs104895474
NM_001370466.1(NOD2):c.1753G>A (p.Ala585Thr) rs104895438
NM_001370466.1(NOD2):c.1753G>T (p.Ala585Ser) rs104895438
NM_001370466.1(NOD2):c.1775C>T (p.Ala592Val) rs867131858
NM_001370466.1(NOD2):c.1929C>A (p.Asn643Lys) rs104895475
NM_001370466.1(NOD2):c.1929C>G (p.Asn643Lys) rs104895475
NM_001370466.1(NOD2):c.1951del (p.Leu651fs) rs1201050964
NM_001370466.1(NOD2):c.2139C>T (p.Ile713=) rs104895441
NM_001370466.1(NOD2):c.2249C>A (p.Thr750Asn) rs756184386
NM_001370466.1(NOD2):c.2394C>G (p.Asn798Lys) rs104895485
NM_001370466.1(NOD2):c.2413A>G (p.Ile805Val) rs765335094
NM_001370466.1(NOD2):c.2477A>G (p.Asn826Ser) rs104895446
NM_001370466.1(NOD2):c.2538C>T (p.Phe846=) rs104895448
NM_001370466.1(NOD2):c.2549+35T>A rs104895449
NM_001370466.1(NOD2):c.2550-5T>C rs104895450
NM_001370466.1(NOD2):c.2551C>T (p.Leu851=) rs886052044
NM_001370466.1(NOD2):c.2624A>G (p.Gln875Arg)
NM_001370466.1(NOD2):c.2634-81G>A rs104895465
NM_001370466.1(NOD2):c.2638T>C (p.Trp880Arg) rs104895490
NM_001370466.1(NOD2):c.2641G>C (p.Gly881Arg) rs2066845
NM_001370466.1(NOD2):c.2641G>T (p.Gly881Cys) rs2066845
NM_001370466.1(NOD2):c.2718-1G>T rs576834532
NM_001370466.1(NOD2):c.276G>T (p.Leu92=) rs672601267
NM_001370466.1(NOD2):c.2833G>A (p.Val945Ile) rs104895455
NM_001370466.1(NOD2):c.2839T>C (p.Ser947Pro) rs1965233783
NM_001370466.1(NOD2):c.2865T>G (p.Asn955Lys)
NM_001370466.1(NOD2):c.572C>T (p.Thr191Ile) rs1964416023
NM_001370466.1(NOD2):c.631A>T (p.Ser211Cys) rs1001861018
NM_001370466.1(NOD2):c.695T>G (p.Val232Gly)
NM_001370466.1(NOD2):c.747G>A (p.Leu249=) rs763504952
NM_001370466.1(NOD2):c.878A>G (p.Gln293Arg)
NM_001370466.1(NOD2):c.919C>T (p.Arg307Trp) rs104895462
NM_001370466.1(NOD2):c.920G>A (p.Arg307Gln) rs104895461
NM_001370466.1(NOD2):c.961C>G (p.Leu321Val) rs104895428
NM_001370466.1(NOD2):c.984G>A (p.Trp328Ter) rs104895488

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