ClinVar Miner

List of variants in gene NOD2 reported as pathogenic for Blau syndrome

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 9
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NM_022162.3(NOD2):c.1000C>T (p.Arg334Trp) rs104895462
NM_022162.3(NOD2):c.1001G>A (p.Arg334Gln) rs104895461
NM_022162.3(NOD2):c.1146C>G (p.Asp382Glu) rs104895476
NM_022162.3(NOD2):c.1147G>A (p.Glu383Lys) rs104895477
NM_022162.3(NOD2):c.1405C>T (p.Leu469Phe) rs104895460
NM_022162.3(NOD2):c.1487A>T (p.His496Leu) rs104895472
NM_022162.3(NOD2):c.1538T>C (p.Met513Thr) rs104895473
NM_022162.3(NOD2):c.2032del (p.Leu678fs)
NM_022162.3(NOD2):c.2798+158C>T rs5743289

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