ClinVar Miner

List of variants reported as likely pathogenic for autoimmune hypoparathyroidism by Neuberg Centre For Genomic Medicine, NCGM

Included ClinVar conditions (3):

Autoimmune polyglandular syndrome type 1, autosomal dominant
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
Polyglandular autoimmune syndrome, type 1

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_000383.4(AIRE):c.274C>T (p.Arg92Trp)	rs140630532	0.00002
NM_000383.4(AIRE):c.652+2T>C	rs1555872272

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