List of variants in gene STAT1 reported as uncertain significance for Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome

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

Total variants: 8

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HGVS	dbSNP	gnomAD frequency
NM_007315.4(STAT1):c.1256C>G (p.Thr419Arg)	rs1347113886
NM_007315.4(STAT1):c.1738G>A (p.Gly580Ser)
NM_007315.4(STAT1):c.1894G>C (p.Glu632Gln)
NM_007315.4(STAT1):c.2174C>T (p.Pro725Leu)	rs1691783002
NM_007315.4(STAT1):c.500A>C (p.Gln167Pro)
NM_007315.4(STAT1):c.501A>C (p.Gln167His)
NM_007315.4(STAT1):c.536_538del (p.Asn179del)	rs2125074976
NM_007315.4(STAT1):c.776T>C (p.Leu259Pro)	rs2125069735

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