ClinVar Miner

List of variants in gene STAT3 reported as likely pathogenic for hyper-IgE recurrent infection syndrome 1, autosomal dominant

Included ClinVar conditions (4):
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Gene type:
ClinVar version:
Total variants: 26
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HGVS dbSNP gnomAD frequency
NM_139276.3(STAT3):c.1003C>T (p.Arg335Trp) rs193922716
NM_139276.3(STAT3):c.1182G>A (p.Met394Ile) rs2144773624
NM_139276.3(STAT3):c.1243G>A (p.Glu415Lys) rs193922717
NM_139276.3(STAT3):c.1261G>A (p.Gly421Arg) rs869312888
NM_139276.3(STAT3):c.1262G>A (p.Gly421Glu)
NM_139276.3(STAT3):c.1699A>G (p.Asn567Asp) rs2144697778
NM_139276.3(STAT3):c.1772A>T (p.Lys591Met) rs193922719
NM_139276.3(STAT3):c.1780G>A (p.Glu594Lys) rs193922720
NM_139276.3(STAT3):c.1842_1849delinsTGAAA (p.Lys615_Gly617delinsGluArg)
NM_139276.3(STAT3):c.1859C>T (p.Thr620Ile) rs1567708034
NM_139276.3(STAT3):c.1861T>G (p.Phe621Val)
NM_139276.3(STAT3):c.1909G>T (p.Val637Leu)
NM_139276.3(STAT3):c.1924A>G (p.Lys642Glu) rs2144683205
NM_139276.3(STAT3):c.1970A>G (p.Tyr657Cys) rs193922721
NM_139276.3(STAT3):c.1976T>A (p.Ile659Asn) rs1555563717
NM_139276.3(STAT3):c.2114A>G (p.Tyr705Cys)
NM_139276.3(STAT3):c.2123C>G (p.Thr708Ser) rs2144622906
NM_139276.3(STAT3):c.2131A>G (p.Ile711Val) rs1131691937
NM_139276.3(STAT3):c.2132T>G (p.Ile711Ser) rs1598381121
NM_139276.3(STAT3):c.2134T>C (p.Cys712Arg) rs193922722
NM_139276.3(STAT3):c.2141C>A (p.Thr714Lys)
NM_139276.3(STAT3):c.832C>T (p.Arg278Cys) rs1555566945
NM_139276.3(STAT3):c.861G>T (p.Leu287Phe) rs2144832509
NM_139276.3(STAT3):c.870A>T (p.Lys290Asn) rs1598415635
NM_139276.3(STAT3):c.986T>G (p.Met329Arg) rs1555566820
NM_139276.3(STAT3):c.994C>T (p.His332Tyr) rs2144827923

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