ClinVar Miner

List of variants studied for autoimmune enteropathy by Laboratory of Transmission, Control and Immunobiology of Infections, Institut Pasteur de Tunis

Included ClinVar conditions (4):

Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome
Diabetes mellitus type 1; Insulin-dependent diabetes mellitus secretory diarrhea syndrome
Immunodeficiency 31B; Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome; Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
Insulin-dependent diabetes mellitus secretory diarrhea syndrome

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Minimum conflict level: Report conflict between different conditions
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Total variants: 1

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HGVS	dbSNP	gnomAD frequency
NM_014009.4(FOXP3):c.224C>T (p.Pro75Leu)	rs2147949202

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