ClinVar Miner

List of variants studied for Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome by Baylor Genetics

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_007315.4(STAT1):c.1154C>T (p.Thr385Met) rs587777630
NM_007315.4(STAT1):c.1738G>A (p.Gly580Ser)
NM_007315.4(STAT1):c.2174C>T (p.Pro725Leu) rs1691783002

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