ClinVar Miner

List of variants in gene NOD2 reported as uncertain significance for Blau syndrome; Inflammatory bowel disease 1

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Total variants: 14
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HGVS dbSNP gnomAD frequency
NM_001370466.1(NOD2):c.2840C>T (p.Ser947Phe) rs200463498 0.00011
NM_001370466.1(NOD2):c.956G>A (p.Arg319Gln) rs759520552 0.00004
NM_001370466.1(NOD2):c.2528G>A (p.Arg843Lys) rs768889214 0.00002
NM_001370466.1(NOD2):c.2443T>C (p.Cys815Arg) rs146313066 0.00001
NM_001370466.1(NOD2):c.1022T>C (p.Leu341Pro) rs1964452487
NM_001370466.1(NOD2):c.1058G>A (p.Gly353Asp) rs1964456255
NM_001370466.1(NOD2):c.1112C>T (p.Thr371Ile) rs1964461594
NM_001370466.1(NOD2):c.1379T>A (p.Val460Asp) rs1964489081
NM_001370466.1(NOD2):c.1639C>G (p.Gln547Glu) rs1264862631
NM_001370466.1(NOD2):c.1852C>A (p.Pro618Thr) rs1228502653
NM_001370466.1(NOD2):c.2026C>G (p.Arg676Gly) rs5743277
NM_001370466.1(NOD2):c.2226G>C (p.Leu742Phe) rs1266638330
NM_001370466.1(NOD2):c.2419A>C (p.Lys807Gln) rs1964807205
NM_001370466.1(NOD2):c.706G>A (p.Val236Met) rs756042160

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