ClinVar Miner

List of variants in gene combination CYLD, NOD2 reported as uncertain significance for immune system disorder

Included ClinVar conditions (908):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 42
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HGVS dbSNP gnomAD frequency
NM_001370466.1(NOD2):c.*873C>T rs373812846 0.00255
NM_001370466.1(NOD2):c.*89C>T rs184545855 0.00183
NM_001370466.1(NOD2):c.3013G>A (p.Gly1005Ser) rs147874812 0.00046
NM_001370466.1(NOD2):c.*462C>A rs562972090 0.00029
NM_001370466.1(NOD2):c.*382C>T rs535063121 0.00026
NM_001370466.1(NOD2):c.*1201T>A rs751525993 0.00021
NM_001370466.1(NOD2):c.*470C>T rs770461687 0.00021
NM_001370466.1(NOD2):c.*1013A>G rs549273021 0.00009
NM_001370466.1(NOD2):c.2917G>A (p.Ala973Thr) rs1282634444 0.00004
NM_001370466.1(NOD2):c.*186C>G rs886052045 0.00003
NM_001370466.1(NOD2):c.*8G>A rs199475923 0.00003
NM_001370466.1(NOD2):c.2974C>T (p.Arg992Ter) rs104895491 0.00003
NM_001370466.1(NOD2):c.*394C>T rs886052048 0.00002
NM_001370466.1(NOD2):c.*1200A>G rs980810508 0.00001
NM_001370466.1(NOD2):c.*609C>T rs1965489095 0.00001
NM_001370466.1(NOD2):c.2903T>C (p.Ile968Thr) rs1306240431 0.00001
NM_001370466.1(NOD2):c.2929C>G (p.Leu977Val) rs772487940 0.00001
NM_001370466.1(NOD2):c.2935G>C (p.Ala979Pro) rs199883290 0.00001
NM_001370466.1(NOD2):c.2938C>T (p.Leu980Phe) rs761083670 0.00001
NM_001370466.1(NOD2):c.2971C>T (p.Leu991Phe) rs146435555 0.00001
NM_001370466.1(NOD2):c.3011T>A (p.Leu1004His) rs1451481984 0.00001
NM_001370466.1(NOD2):c.*183C>T rs547264433
NM_001370466.1(NOD2):c.*325G>A rs886052046
NM_001370466.1(NOD2):c.*329_*334dup rs886052047
NM_001370466.1(NOD2):c.*422C>G rs886052049
NM_001370466.1(NOD2):c.*64G>C rs1053712094
NM_001370466.1(NOD2):c.2886G>A (p.Lys962=) rs1965389837
NM_001370466.1(NOD2):c.2906C>T (p.Thr969Ile) rs1567407613
NM_001370466.1(NOD2):c.2915G>C (p.Gly972Ala) rs1238071864
NM_001370466.1(NOD2):c.2917del (p.Ala973fs)
NM_001370466.1(NOD2):c.2944A>G (p.Arg982Gly) rs771490210
NM_001370466.1(NOD2):c.2948A>G (p.Asn983Ser)
NM_001370466.1(NOD2):c.2957T>C (p.Ile986Thr) rs2150843373
NM_001370466.1(NOD2):c.2974C>G (p.Arg992Gly) rs104895491
NM_001370466.1(NOD2):c.2975G>A (p.Arg992Gln) rs5743295
NM_001370466.1(NOD2):c.2975G>T (p.Arg992Leu) rs5743295
NM_001370466.1(NOD2):c.3001G>A (p.Val1001Ile) rs1340958111
NM_001370466.1(NOD2):c.3002T>C (p.Val1001Ala)
NM_001370466.1(NOD2):c.3022G>A (p.Asp1008Asn) rs2150846563
NM_001370466.1(NOD2):c.3036G>T (p.Leu1012Phe)
NM_001370466.1(NOD2):c.3037C>A (p.Leu1013Ile)
NM_022162.3(NOD2):c.3019dup (p.Leu1007fs) rs2066847

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