ClinVar Miner

List of variants reported as pathogenic for autoimmune disorder of endocrine system by Mendelics

Included ClinVar conditions (13):

Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome
Autoimmune polyglandular syndrome type 1, autosomal dominant
Cardiac arrhythmia; Diabetes mellitus type 1; Atrial septal defect; Tricuspid regurgitation; Abnormal facial shape; Strabismus; Mitral regurgitation; Abnormal autonomic nervous system physiology; Abnormal periventricular white matter morphology; Ectopic pancreatic tissue; Abnormality of skin physiology; Abnormal renal morphology; Vasovagal syncope
Celiac disease, susceptibility to, 3; Type 1 diabetes mellitus 12; Hashimoto thyroiditis; Systemic lupus erythematosus; Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency
Diabetes mellitus type 1
Diabetes mellitus type 1; Charcot-Marie-Tooth disease, demyelinating, type 1J
Diabetes mellitus type 1; Insulin-dependent diabetes mellitus secretory diarrhea syndrome
Diabetes mellitus type 1; Type 1 diabetes mellitus 20; Maturity-onset diabetes of the young type 3; Type 2 diabetes mellitus
Diabetes mellitus type 1; Type 1 diabetes mellitus 20; Maturity-onset diabetes of the young type 3; Type 2 diabetes mellitus; Hepatic adenomas, familial; Nonpapillary renal cell carcinoma
Epicanthus; Global developmental delay; Seizure; Eczematoid dermatitis; Abnormal facial shape; Speech apraxia; Wide mouth; Wide nasal bridge; Long eyelashes; Abnormality of the musculature; Hyperactive patellar reflex; Autoimmune hypoparathyroidism
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
Polyglandular autoimmune syndrome, type 1

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Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_000383.4(AIRE):c.117del (p.Glu40fs)	rs1248788128
NM_000383.4(AIRE):c.415C>T (p.Arg139Ter)	rs121434256
NM_014009.4(FOXP3):c.1234del (p.Glu412fs)	rs2147944106

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