List of variants reported as pathogenic for Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome; Inborn error of immunity

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Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_001354930.2(RIPK1):c.1934C>T (p.Thr645Met)	rs116040763	0.00011
NM_001354930.2(RIPK1):c.1844T>C (p.Ile615Thr)	rs752183065	0.00001
NM_001354930.2(RIPK1):c.1278C>A (p.Tyr426Ter)	rs374657927
NM_001354930.2(RIPK1):c.1802G>A (p.Cys601Tyr)	rs1561780980
NM_001354930.2(RIPK1):c.954del (p.Met318fs)	rs1561772403

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