ClinVar Miner

List of variants in gene STAT3 reported as pathogenic by Invitae

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Total variants: 33
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HGVS dbSNP gnomAD frequency
NM_139276.3(STAT3):c.1268G>A (p.Arg423Gln) rs113994137 0.00001
NM_139276.3(STAT3):c.833G>A (p.Arg278His) rs2082128828 0.00001
NM_139276.3(STAT3):c.1003C>T (p.Arg335Trp) rs193922716
NM_139276.3(STAT3):c.1110-2A>G rs2144778323
NM_139276.3(STAT3):c.1144C>T (p.Arg382Trp) rs113994135
NM_139276.3(STAT3):c.1145G>A (p.Arg382Gln) rs113994136
NM_139276.3(STAT3):c.1145G>C (p.Arg382Pro)
NM_139276.3(STAT3):c.1181T>C (p.Met394Thr)
NM_139276.3(STAT3):c.1228C>T (p.His410Tyr) rs2081903545
NM_139276.3(STAT3):c.1261G>A (p.Gly421Arg) rs869312888
NM_139276.3(STAT3):c.1311C>A (p.His437Gln) rs1598399795
NM_139276.3(STAT3):c.1384GTG[1] (p.Val463del) rs113994138
NM_139276.3(STAT3):c.1397A>C (p.Asn466Thr) rs1057521091
NM_139276.3(STAT3):c.1859C>G (p.Thr620Ser) rs1567708034
NM_139276.3(STAT3):c.1865C>T (p.Thr622Ile)
NM_139276.3(STAT3):c.1907C>A (p.Ser636Tyr)
NM_139276.3(STAT3):c.1907C>T (p.Ser636Phe)
NM_139276.3(STAT3):c.1909G>A (p.Val637Met) rs113994139
NM_139276.3(STAT3):c.1915C>A (p.Pro639Thr)
NM_139276.3(STAT3):c.1915C>G (p.Pro639Ala) rs2144683531
NM_139276.3(STAT3):c.1934T>A (p.Leu645Gln)
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.1979T>C (p.Met660Thr) rs886039434
NM_139276.3(STAT3):c.2116C>A (p.Leu706Met) rs2144622987
NM_139276.3(STAT3):c.2117T>C (p.Leu706Pro) rs1131691476
NM_139276.3(STAT3):c.2137G>T (p.Val713Leu)
NM_139276.3(STAT3):c.2141C>T (p.Thr714Ile) rs2081287195
NM_139276.3(STAT3):c.2144C>T (p.Pro715Leu) rs1064794957
NM_139276.3(STAT3):c.2147C>T (p.Thr716Met) rs869312892
NM_139276.3(STAT3):c.454C>T (p.Arg152Trp) rs869312890
NM_139276.3(STAT3):c.986T>A (p.Met329Lys) rs1555566820
NM_139276.3(STAT3):c.994C>T (p.His332Tyr) rs2144827923

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