ClinVar Miner

List of variants reported as likely pathogenic for Hyperimmunoglobulin E syndrome; STAT3 gain of function

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Total variants: 3
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HGVS dbSNP
NM_139276.2(STAT3):c.1003C>T (p.Arg335Trp) rs193922716
NM_139276.2(STAT3):c.1970A>G (p.Tyr657Cys) rs193922721
NM_139276.2(STAT3):c.986T>A (p.Met329Lys) rs1555566820

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