ClinVar Miner

List of variants in gene CYLD, NOD2 studied for Crohn disease

Included ClinVar conditions (2):
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Total variants: 40
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HGVS dbSNP gnomAD frequency
NM_001370466.1(NOD2):c.2886-16G>C rs199525467 0.00118
NM_001370466.1(NOD2):c.3013G>A (p.Gly1005Ser) rs147874812 0.00046
NM_001370466.1(NOD2):c.2886-11T>G rs200519856 0.00035
NM_001370466.1(NOD2):c.2979G>A (p.Gly993=) rs374689495 0.00009
NM_001370466.1(NOD2):c.2886-9C>A rs554292255 0.00006
NM_001370466.1(NOD2):c.2917G>A (p.Ala973Thr) rs1282634444 0.00004
NM_001370466.1(NOD2):c.2970-16A>G rs530365159 0.00002
NM_001370466.1(NOD2):c.3012C>T (p.Leu1004=) rs201214915 0.00002
NM_001370466.1(NOD2):c.3015C>A (p.Gly1005=) rs765204397 0.00002
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.2931G>A (p.Leu977=) rs773388366 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.*329_*334dup rs886052047
NM_001370466.1(NOD2):c.2886-12C>T
NM_001370466.1(NOD2):c.2886-17T>C rs757094587
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.2959C>T (p.Leu987=)
NM_001370466.1(NOD2):c.2969+13G>A
NM_001370466.1(NOD2):c.2969+14G>A rs2150843410
NM_001370466.1(NOD2):c.2969+15C>A
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.2985T>C (p.Thr995=)
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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