ClinVar Miner

List of variants studied for Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome by 3billion

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Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_007315.4(STAT1):c.536_538del (p.Asn179del)	rs2125074976
NM_007315.4(STAT1):c.776T>C (p.Leu259Pro)	rs2125069735
NM_007315.4(STAT1):c.820C>G (p.Arg274Gly)	rs387906758
NM_007315.4(STAT1):c.820C>T (p.Arg274Trp)	rs387906758

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