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

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Total variants: 15

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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.2906C>T (p.Thr969Ile)	rs1567407613
NM_001370466.1(NOD2):c.706G>A (p.Val236Met)	rs756042160

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