ClinVar Miner

List of variants in gene NOD2 studied for not provided

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 184
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001370466.1(NOD2):c.2549+290T>G rs751271 0.61861
NM_001370466.1(NOD2):c.453C>G (p.Ser151=) rs2067085 0.35090
NM_001370466.1(NOD2):c.2802-132del rs138198313 0.33709
NM_001370466.1(NOD2):c.2802-131T>A rs4990643 0.33701
NM_001370466.1(NOD2):c.460-304A>C rs17312836 0.33626
NM_001370466.1(NOD2):c.1680T>G (p.Arg560=) rs1861759 0.32445
NM_001370466.1(NOD2):c.721C>T (p.Pro241Ser) rs2066842 0.17968
NM_001370466.1(NOD2):c.2717+265A>G rs2076756 0.17274
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.2634-235C>G rs73575767 0.04957
NM_001370466.1(NOD2):c.2023C>T (p.Arg675Trp) rs2066844 0.02936
NM_001370466.1(NOD2):c.565+191G>A rs5743270 0.02259
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.2288G>A (p.Arg763Gln) rs5743279 0.01035
NM_001370466.1(NOD2):c.1372C>T (p.Leu458=) rs5743274 0.01031
NM_001370466.1(NOD2):c.2382-1011C>T rs146684845 0.00849
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.785A>G (p.Asn262Ser) rs5743271 0.00557
NM_001370466.1(NOD2):c.974A>G (p.His325Arg) rs5743272 0.00389
NM_001370466.1(NOD2):c.735C>T (p.Ser245=) rs35090774 0.00360
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.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.1970G>A (p.Arg657Gln) rs114664276 0.00131
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.2381+218A>G rs199475918 0.00063
NM_001370466.1(NOD2):c.2381+199A>G rs199475917 0.00058
NM_001370466.1(NOD2):c.2717+148A>G rs199475922 0.00058
NM_001370466.1(NOD2):c.1330C>T (p.Arg444Cys) rs1078327 0.00057
NM_001370466.1(NOD2):c.-8-2406T>C rs199475908 0.00055
NM_001370466.1(NOD2):c.2057G>A (p.Arg686His) rs104895483 0.00055
NM_001370466.1(NOD2):c.-8-2335G>C rs199475910 0.00051
NM_001370466.1(NOD2):c.2672C>A (p.Ala891Asp) rs104895452 0.00051
NM_001370466.1(NOD2):c.486G>A (p.Thr162=) rs144887729 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.1693G>A (p.Val565Met) rs148683734 0.00041
NM_001370466.1(NOD2):c.258C>T (p.Asp86=) rs138889062 0.00041
NM_001370466.1(NOD2):c.2490C>T (p.Asp830=) rs144083291 0.00039
NM_001370466.1(NOD2):c.1240G>A (p.Glu414Lys) rs104895432 0.00034
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.-8-2185C>T rs144993105 0.00024
NM_001370466.1(NOD2):c.1214C>T (p.Ala405Val) rs2076754 0.00024
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.1245C>T (p.Phe415=) rs151315883 0.00021
NM_001370466.1(NOD2):c.1200G>A (p.Pro400=) rs104895430 0.00019
NM_001370466.1(NOD2):c.1923G>A (p.Pro641=) rs199475914 0.00019
NM_001370466.1(NOD2):c.2550-316A>G rs199475921 0.00019
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.665A>G (p.Glu222Gly) rs117836686 0.00016
NM_001370466.1(NOD2):c.1275C>T (p.Ile425=) rs186719861 0.00014
NM_001370466.1(NOD2):c.2149C>T (p.Arg717Trp) rs140876663 0.00014
NM_001370466.1(NOD2):c.2389G>A (p.Asp797Asn) rs61755272 0.00014
NM_001370466.1(NOD2):c.2465+2dup rs748508924 0.00014
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.45C>T (p.Val15=) rs766815592 0.00011
NM_001370466.1(NOD2):c.1965G>T (p.Leu655Phe) rs149002807 0.00009
NM_001370466.1(NOD2):c.2446G>A (p.Glu816Lys) rs104895445 0.00008
NM_001370466.1(NOD2):c.402C>T (p.Phe134=) rs565504727 0.00008
NM_001370466.1(NOD2):c.-8-2238G>C rs976567823 0.00005
NM_001370466.1(NOD2):c.1085C>T (p.Thr362Met) rs528926956 0.00005
NM_001370466.1(NOD2):c.1450A>G (p.Thr484Ala) rs759153904 0.00005
NM_001370466.1(NOD2):c.2287C>T (p.Arg763Trp) rs62029861 0.00005
NM_001370466.1(NOD2):c.2776A>G (p.Lys926Glu) rs375705174 0.00005
NM_001370466.1(NOD2):c.403G>A (p.Val135Ile) rs139571975 0.00005
NM_001370466.1(NOD2):c.-8-2388C>T rs199475909 0.00004
NM_001370466.1(NOD2):c.1088A>T (p.Asp363Val) rs769622495 0.00004
NM_001370466.1(NOD2):c.1178G>A (p.Arg393His) rs199475913 0.00004
NM_001370466.1(NOD2):c.2284C>T (p.Leu762Phe) rs773758818 0.00004
NM_001370466.1(NOD2):c.2381+132G>T rs578254258 0.00004
NM_001370466.1(NOD2):c.2407C>T (p.Arg803Ter) rs760623178 0.00004
NM_001370466.1(NOD2):c.2852G>A (p.Gly951Glu) rs104895457 0.00004
NM_001370466.1(NOD2):c.417A>T (p.Glu139Asp) rs749605438 0.00004
NM_001370466.1(NOD2):c.605C>T (p.Thr202Met) rs529640892 0.00004
NM_001370466.1(NOD2):c.1678C>T (p.Arg560Cys) rs104895479 0.00003
NM_001370466.1(NOD2):c.1994A>G (p.Glu665Gly) rs766687492 0.00003
NM_001370466.1(NOD2):c.230T>C (p.Ile77Thr) rs912789864 0.00003
NM_001370466.1(NOD2):c.2465C>T (p.Ala822Val) rs104895486 0.00003
NM_001370466.1(NOD2):c.313C>T (p.Arg105Ter) rs757487598 0.00003
NM_001370466.1(NOD2):c.616C>T (p.Gln206Ter) rs781333877 0.00003
NM_001370466.1(NOD2):c.726G>A (p.Pro242=) rs369766454 0.00003
NM_001370466.1(NOD2):c.-8-2021T>C rs199475911 0.00002
NM_001370466.1(NOD2):c.1321C>T (p.Arg441Cys) rs769988393 0.00002
NM_001370466.1(NOD2):c.1923del (p.His642fs) rs758485603 0.00002
NM_001370466.1(NOD2):c.2056C>T (p.Arg686Cys) rs104895440 0.00002
NM_001370466.1(NOD2):c.2337C>G (p.Gly779=) rs199475916 0.00002
NM_001370466.1(NOD2):c.790G>A (p.Asp264Asn) rs104895424 0.00002
NM_001370466.1(NOD2):c.815G>A (p.Gly272Asp) rs771184127 0.00002
NM_001370466.1(NOD2):c.1041C>T (p.Val347=) rs757517796 0.00001
NM_001370466.1(NOD2):c.1177C>T (p.Arg393Cys) rs367883043 0.00001
NM_001370466.1(NOD2):c.1428G>A (p.Glu476=) rs104895434 0.00001
NM_001370466.1(NOD2):c.1459T>C (p.Tyr487His) rs540122692 0.00001
NM_001370466.1(NOD2):c.1490A>C (p.His497Pro) rs756269477 0.00001
NM_001370466.1(NOD2):c.1563G>A (p.Leu521=) rs369085294 0.00001
NM_001370466.1(NOD2):c.1755G>A (p.Ala585=) rs756626309 0.00001
NM_001370466.1(NOD2):c.1957G>A (p.Gly653Arg) rs371339573 0.00001
NM_001370466.1(NOD2):c.2129C>T (p.Pro710Leu) rs763452657 0.00001
NM_001370466.1(NOD2):c.2150G>A (p.Arg717Gln) rs751849531 0.00001
NM_001370466.1(NOD2):c.2176C>T (p.Arg726Trp) rs749720540 0.00001
NM_001370466.1(NOD2):c.2181G>A (p.Leu727=) rs199475915 0.00001
NM_001370466.1(NOD2):c.2304G>C (p.Leu768=) rs1164125645 0.00001
NM_001370466.1(NOD2):c.2353C>T (p.Pro785Ser) rs746692864 0.00001
NM_001370466.1(NOD2):c.2465+28G>A rs199475919 0.00001
NM_001370466.1(NOD2):c.2596G>A (p.Glu866Lys) rs201884393 0.00001
NM_001370466.1(NOD2):c.2618C>T (p.Ser873Phe) rs199552944 0.00001
NM_001370466.1(NOD2):c.2828A>G (p.Glu943Gly) rs371389581 0.00001
NM_001370466.1(NOD2):c.331C>T (p.Arg111Trp) rs184502667 0.00001
NM_001370466.1(NOD2):c.516T>C (p.Leu172=) rs201115206 0.00001
NM_001370466.1(NOD2):c.565+1G>A rs766614906 0.00001
NM_001370466.1(NOD2):c.791A>G (p.Asp264Gly) rs755127265 0.00001
NM_001370466.1(NOD2):c.955C>T (p.Arg319Trp) rs753537879 0.00001
NM_001370466.1(NOD2):c.-8-2619C>A rs199475907
NM_001370466.1(NOD2):c.-8-2A>T
NM_001370466.1(NOD2):c.-9+2758A>G rs199475906
NM_001370466.1(NOD2):c.1020C>G (p.Leu340=) rs1481032704
NM_001370466.1(NOD2):c.1160A>G (p.Asn387Ser) rs104895429
NM_001370466.1(NOD2):c.1182G>C (p.Lys394Asn)
NM_001370466.1(NOD2):c.1244T>C (p.Phe415Ser)
NM_001370466.1(NOD2):c.1305G>C (p.Glu435Asp) rs747921876
NM_001370466.1(NOD2):c.1430G>T (p.Gly477Val)
NM_001370466.1(NOD2):c.1501C>G (p.Pro501Ala)
NM_001370466.1(NOD2):c.1502del (p.Pro501fs)
NM_001370466.1(NOD2):c.1553C>T (p.Pro518Leu) rs777949388
NM_001370466.1(NOD2):c.1591_1596del (p.Leu531_Gly532del) rs104895436
NM_001370466.1(NOD2):c.1753G>A (p.Ala585Thr) rs104895438
NM_001370466.1(NOD2):c.1828_1846del (p.Asn610fs) rs745991254
NM_001370466.1(NOD2):c.193G>T (p.Val65Phe) rs187264529
NM_001370466.1(NOD2):c.2036G>A (p.Cys679Tyr)
NM_001370466.1(NOD2):c.2136C>T (p.Phe712=)
NM_001370466.1(NOD2):c.2381+262C>G rs4785225
NM_001370466.1(NOD2):c.2466-41G>A rs199475920
NM_001370466.1(NOD2):c.2495dup (p.Cys832fs) rs1555500626
NM_001370466.1(NOD2):c.2550-16_2550-15del rs762600414
NM_001370466.1(NOD2):c.2567T>C (p.Ile856Thr)
NM_001370466.1(NOD2):c.2582C>T (p.Ala861Val) rs2150829286
NM_001370466.1(NOD2):c.2633G>A (p.Gly878Glu)
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.2702G>A (p.Ser901Asn) rs772064514
NM_001370466.1(NOD2):c.2718-147dup rs59171756
NM_001370466.1(NOD2):c.2718-200del rs11292073
NM_001370466.1(NOD2):c.2718-200dup rs11292073
NM_001370466.1(NOD2):c.272A>G (p.Lys91Arg) rs1032593984
NM_001370466.1(NOD2):c.2770C>G (p.Leu924Val) rs768561004
NM_001370466.1(NOD2):c.2831G>A (p.Gly944Asp) rs1187029221
NM_001370466.1(NOD2):c.309A>G (p.Pro103=) rs2150782456
NM_001370466.1(NOD2):c.347G>A (p.Arg116Lys) rs1596827607
NM_001370466.1(NOD2):c.380A>C (p.Asp127Ala)
NM_001370466.1(NOD2):c.459+1G>A rs1425704084
NM_001370466.1(NOD2):c.539C>G (p.Pro180Arg) rs1596852030
NM_001370466.1(NOD2):c.550G>T (p.Ala184Ser) rs771887760
NM_001370466.1(NOD2):c.565+1G>T
NM_001370466.1(NOD2):c.677C>A (p.Thr226Lys)
NM_001370466.1(NOD2):c.870T>A (p.Ala290=)
NM_001370466.1(NOD2):c.872C>T (p.Ala291Val)
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.920G>T (p.Arg307Leu)
NM_001370466.1(NOD2):c.949T>C (p.Ser317Pro)
NM_001370466.1(NOD2):c.950C>T (p.Ser317Phe) rs199475912
NM_001370466.1(NOD2):c.973C>A (p.His325Asn) rs1964447610

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.