ClinVar Miner

List of variants studied for Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome by Neuberg Centre For Genomic Medicine, NCGM

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_007315.4(STAT1):c.500A>C (p.Gln167Pro)
NM_007315.4(STAT1):c.821G>A (p.Arg274Gln) rs387906760
NM_007315.4(STAT1):c.854A>G (p.Gln285Arg) rs587777629

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