ClinVar Miner

List of variants reported as likely benign for Blau syndrome

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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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