ClinVar Miner

List of variants in gene NOD2 reported as uncertain significance by GeneDx

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Gene type:
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Total variants: 28
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HGVS dbSNP gnomAD frequency
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.2291G>A (p.Arg764Gln) rs104895464 0.00137
NM_001370466.1(NOD2):c.2474A>G (p.Asn825Ser) rs104895467 0.00076
NM_001370466.1(NOD2):c.1036C>T (p.Arg346Cys) rs145293873 0.00021
NM_001370466.1(NOD2):c.59C>T (p.Ser20Leu) rs201586544 0.00018
NM_001370466.1(NOD2):c.2465+2dup rs748508924 0.00014
NM_001370466.1(NOD2):c.2382-9T>A rs201759367 0.00011
NM_001370466.1(NOD2):c.2446G>A (p.Glu816Lys) rs104895445 0.00008
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.605C>T (p.Thr202Met) rs529640892 0.00004
NM_001370466.1(NOD2):c.1994A>G (p.Glu665Gly) rs766687492 0.00003
NM_001370466.1(NOD2):c.1177C>T (p.Arg393Cys) rs367883043 0.00001
NM_001370466.1(NOD2):c.1459T>C (p.Tyr487His) rs540122692 0.00001
NM_001370466.1(NOD2):c.791A>G (p.Asp264Gly) rs755127265 0.00001
NM_001370466.1(NOD2):c.1244T>C (p.Phe415Ser)
NM_001370466.1(NOD2):c.1305G>C (p.Glu435Asp) rs747921876
NM_001370466.1(NOD2):c.1502del (p.Pro501fs)
NM_001370466.1(NOD2):c.1591_1596del (p.Leu531_Gly532del) rs104895436
NM_001370466.1(NOD2):c.2495dup (p.Cys832fs) rs1555500626
NM_001370466.1(NOD2):c.2582C>T (p.Ala861Val) rs2150829286
NM_001370466.1(NOD2):c.2633G>A (p.Gly878Glu)
NM_001370466.1(NOD2):c.272A>G (p.Lys91Arg) rs1032593984
NM_001370466.1(NOD2):c.565+1G>T
NM_001370466.1(NOD2):c.872C>T (p.Ala291Val)
NM_001370466.1(NOD2):c.949T>C (p.Ser317Pro)
NM_001370466.1(NOD2):c.973C>A (p.His325Asn) rs1964447610

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