ClinVar Miner

List of variants in gene NOD2 reported as benign for Blau syndrome

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Gene type:
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Total variants: 72
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HGVS dbSNP
NM_001370466.1(NOD2):c.*1023C>T rs5743299
NM_001370466.1(NOD2):c.*1156G>A rs3135500
NM_001370466.1(NOD2):c.*183C>T
NM_001370466.1(NOD2):c.*397A>C rs3135499
NM_001370466.1(NOD2):c.*521C>T rs5743297
NM_001370466.1(NOD2):c.*620G>A rs116213743
NM_001370466.1(NOD2):c.*873C>T rs373812846
NM_001370466.1(NOD2):c.*877C>A rs140643942
NM_001370466.1(NOD2):c.*89C>T rs184545855
NM_001370466.1(NOD2):c.*8G>A rs199475923
NM_001370466.1(NOD2):c.*990T>C rs192842874
NM_001370466.1(NOD2):c.-8-2258C>T rs117611225
NM_001370466.1(NOD2):c.-8-2302T>C rs139485985
NM_001370466.1(NOD2):c.-8-2303G>A rs2076752
NM_001370466.1(NOD2):c.1091G>A (p.Arg364His) rs554887705
NM_001370466.1(NOD2):c.1109C>T (p.Pro370Leu) rs150078153
NM_001370466.1(NOD2):c.1188G>T (p.Val396=) rs77966199
NM_001370466.1(NOD2):c.1200G>A (p.Pro400=) rs104895430
NM_001370466.1(NOD2):c.1211C>T (p.Ser404Leu) rs104895431
NM_001370466.1(NOD2):c.1235G>A (p.Arg412His) rs143110172
NM_001370466.1(NOD2):c.1240G>A (p.Glu414Lys) rs104895432
NM_001370466.1(NOD2):c.1296C>T (p.Arg432=) rs2066843
NM_001370466.1(NOD2):c.1330C>T (p.Arg444Cys) rs1078327
NM_001370466.1(NOD2):c.1522C>T (p.Leu508=) rs145190613
NM_001370466.1(NOD2):c.1553C>T (p.Pro518Leu) rs777949388
NM_001370466.1(NOD2):c.1680T>G (p.Arg560=) rs1861759
NM_001370466.1(NOD2):c.1752C>T (p.Ala584=) rs61736932
NM_001370466.1(NOD2):c.1758C>T (p.Phe586=) rs149870902
NM_001370466.1(NOD2):c.1900G>C (p.Ala634Pro) rs369957746
NM_001370466.1(NOD2):c.1922C>T (p.Pro641Leu) rs5743275
NM_001370466.1(NOD2):c.193G>A (p.Val65Ile) rs187264529
NM_001370466.1(NOD2):c.1965G>T (p.Leu655Phe) rs149002807
NM_001370466.1(NOD2):c.2042G>A (p.Arg681His) rs35285618
NM_001370466.1(NOD2):c.2057G>A (p.Arg686His) rs104895483
NM_001370466.1(NOD2):c.2066G>A (p.Arg689His) rs200035357
NM_001370466.1(NOD2):c.2087C>T (p.Pro696Leu) rs201076024
NM_001370466.1(NOD2):c.2093C>G (p.Ala698Gly) rs5743278
NM_001370466.1(NOD2):c.2290C>T (p.Arg764Trp) rs104895484
NM_001370466.1(NOD2):c.2291G>A (p.Arg764Gln) rs104895464
NM_001370466.1(NOD2):c.2296G>A (p.Val766Met) rs104895444
NM_001370466.1(NOD2):c.2325G>T (p.Val775=) rs104895495
NM_001370466.1(NOD2):c.232G>A (p.Ala78Thr)
NM_001370466.1(NOD2):c.2381+10A>C rs72796353
NM_001370466.1(NOD2):c.2382-9T>A rs201759367
NM_001370466.1(NOD2):c.2466-11G>T rs5743285
NM_001370466.1(NOD2):c.247G>A (p.Ala83Thr)
NM_001370466.1(NOD2):c.2623C>A (p.Gln875Lys) rs201035873
NM_001370466.1(NOD2):c.2631G>A (p.Leu877=) rs142559533
NM_001370466.1(NOD2):c.2641G>T (p.Gly881Cys) rs2066845
NM_001370466.1(NOD2):c.2781C>T (p.Asn927=)
NM_001370466.1(NOD2):c.2782G>A (p.Val928Ile) rs5743291
NM_001370466.1(NOD2):c.2845G>A (p.Ala949Thr) rs148561632
NM_001370466.1(NOD2):c.3013G>A (p.Gly1005Ser) rs147874812
NM_001370466.1(NOD2):c.337G>A (p.Ala113Thr) rs34684955
NM_001370466.1(NOD2):c.379G>A (p.Asp127Asn) rs146054564
NM_001370466.1(NOD2):c.403G>A (p.Val135Ile) rs139571975
NM_001370466.1(NOD2):c.450G>A (p.Pro150=) rs775281342
NM_001370466.1(NOD2):c.453C>G (p.Ser151=) rs2067085
NM_001370466.1(NOD2):c.460-3T>C rs141833420
NM_001370466.1(NOD2):c.485C>T (p.Thr162Met) rs61755182
NM_001370466.1(NOD2):c.552C>T (p.Ala184=) rs5743269
NM_001370466.1(NOD2):c.565+15T>C rs765487015
NM_001370466.1(NOD2):c.59C>T (p.Ser20Leu) rs201586544
NM_001370466.1(NOD2):c.605C>T (p.Thr202Met)
NM_001370466.1(NOD2):c.721C>T (p.Pro241Ser) rs2066842
NM_001370466.1(NOD2):c.747G>A (p.Leu249=) rs763504952
NM_001370466.1(NOD2):c.760C>T (p.Leu254Phe) rs756943416
NM_001370466.1(NOD2):c.778C>T (p.His260Tyr) rs560242309
NM_001370466.1(NOD2):c.785A>G (p.Asn262Ser) rs5743271
NM_001370466.1(NOD2):c.794C>T (p.Ala265Val) rs149338478
NM_001370466.1(NOD2):c.800C>G (p.Thr267Ser) rs104895425
NM_001370466.1(NOD2):c.989A>C (p.Asp330Ala) rs104895469

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