ClinVar Miner

List of variants reported as likely pathogenic for Hyperimmunoglobulin E syndrome

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Total variants: 7
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NM_139276.2(STAT3):c.1003C>T (p.Arg335Trp) rs193922716
NM_139276.2(STAT3):c.1243G>A (p.Glu415Lys) rs193922717
NM_139276.2(STAT3):c.1772A>T (p.Lys591Met) rs193922719
NM_139276.2(STAT3):c.1780G>A (p.Glu594Lys) rs193922720
NM_139276.2(STAT3):c.1970A>G (p.Tyr657Cys) rs193922721
NM_139276.2(STAT3):c.1976T>A (p.Ile659Asn) rs1555563717
NM_139276.2(STAT3):c.2134T>C (p.Cys712Arg) rs193922722

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