List of variants reported as likely pathogenic for Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome

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Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_007315.4(STAT1):c.1066T>G (p.Tyr356Asp)
NM_007315.4(STAT1):c.1210T>G (p.Phe404Val)
NM_007315.4(STAT1):c.511G>C (p.Asp171His)
NM_007315.4(STAT1):c.970T>C (p.Cys324Arg)	rs1574653439
NM_181078.3(IL21R):c.563del (p.Leu188fs)	rs2087444941

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