List of variants reported as likely benign for Blau syndrome by Illumina Laboratory Services, Illumina

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Total variants: 27

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HGVS	dbSNP	gnomAD frequency
NM_001370466.1(NOD2):c.2023C>T (p.Arg675Trp)	rs2066844	0.02936
NM_001370466.1(NOD2):c.-8-2340del	rs5743265	0.00779
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.-8-7T>A	rs104895421	0.00092
NM_001370466.1(NOD2):c.2474A>G (p.Asn825Ser)	rs104895467	0.00076
NM_001370466.1(NOD2):c.2506A>G (p.Met836Val)	rs104895447	0.00073
NM_001370466.1(NOD2):c.2672C>A (p.Ala891Asp)	rs104895452	0.00051
NM_001370466.1(NOD2):c.850C>T (p.Arg284Trp)	rs104895427	0.00051
NM_001370466.1(NOD2):c.1969C>T (p.Arg657Trp)	rs5743276	0.00032
NM_001370466.1(NOD2):c.2251G>A (p.Glu751Lys)	rs104895443	0.00020
NM_001370466.1(NOD2):c.2149C>T (p.Arg717Trp)	rs140876663	0.00014
NM_001370466.1(NOD2):c.622C>T (p.Arg208Cys)	rs104895422	0.00013
NM_001370466.1(NOD2):c.1608C>T (p.Tyr536=)	rs111608429	0.00010
NM_001370466.1(NOD2):c.332G>A (p.Arg111Gln)	rs104895456	0.00010
NM_001370466.1(NOD2):c.1745T>G (p.Phe582Cys)	rs777798807	0.00008
NM_001370466.1(NOD2):c.2284C>T (p.Leu762Phe)	rs773758818	0.00004
NM_001370466.1(NOD2):c.2408G>A (p.Arg803Gln)	rs770915641	0.00004
NM_001370466.1(NOD2):c.2736T>C (p.Ile912=)	rs104895454	0.00004
NM_001370466.1(NOD2):c.653C>T (p.Thr218Met)	rs148516118	0.00004
NM_001370466.1(NOD2):c.2465+1G>A	rs373550987	0.00003
NM_001370466.1(NOD2):c.2465C>T (p.Ala822Val)	rs104895486	0.00003
NM_001370466.1(NOD2):c.726G>A (p.Pro242=)	rs369766454	0.00003
NM_001370466.1(NOD2):c.1753G>A (p.Ala585Thr)	rs104895438
NM_001370466.1(NOD2):c.1753G>T (p.Ala585Ser)	rs104895438
NM_001370466.1(NOD2):c.2641G>C (p.Gly881Arg)	rs2066845
NM_022162.3(NOD2):c.3019dup (p.Leu1007fs)	rs2066847

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