ClinVar Miner

List of variants in gene STAT3 studied for autoimmune disease, multisystem, infantile-onset

Included ClinVar conditions (5):
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Total variants: 35
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HGVS dbSNP gnomAD frequency
NM_139276.3(STAT3):c.1233+43C>G rs2293152 0.66160
NM_139276.3(STAT3):c.2049C>T (p.Phe683=) rs373256669 0.00017
NM_139276.3(STAT3):c.2228G>T (p.Gly743Val) rs151033214 0.00011
NM_139276.3(STAT3):c.1233+19C>T rs764434579 0.00010
NM_139276.3(STAT3):c.1268G>A (p.Arg423Gln) rs113994137 0.00001
NM_139276.3(STAT3):c.1887C>T (p.Ser629=) rs769658142 0.00001
NM_139276.3(STAT3):c.373C>G (p.Gln125Glu) rs574370336 0.00001
NM_139276.3(STAT3):c.1004G>A (p.Arg335Gln)
NM_139276.3(STAT3):c.1032G>C (p.Gln344His) rs869312887
NM_139276.3(STAT3):c.1057G>T (p.Val353Phe) rs869312891
NM_139276.3(STAT3):c.1129G>A (p.Ala377Thr) rs2081912356
NM_139276.3(STAT3):c.1144C>T (p.Arg382Trp) rs113994135
NM_139276.3(STAT3):c.1175A>G (p.Lys392Arg) rs587777648
NM_139276.3(STAT3):c.1243G>A (p.Glu415Lys) rs193922717
NM_139276.3(STAT3):c.1260T>G (p.Asn420Lys) rs869312893
NM_139276.3(STAT3):c.1261G>A (p.Gly421Arg) rs869312888
NM_139276.3(STAT3):c.1310A>T (p.His437Leu) rs2081712040
NM_139276.3(STAT3):c.1333G>A (p.Val445Met)
NM_139276.3(STAT3):c.1339C>G (p.His447Asp)
NM_139276.3(STAT3):c.1601-10dup rs3830585
NM_139276.3(STAT3):c.1749-4C>A
NM_139276.3(STAT3):c.1840A>C (p.Ser614Arg) rs886039546
NM_139276.3(STAT3):c.1842C>G (p.Ser614Arg)
NM_139276.3(STAT3):c.1938C>G (p.Asn646Lys) rs587777649
NM_139276.3(STAT3):c.1973A>G (p.Lys658Arg) rs2081520204
NM_139276.3(STAT3):c.1974G>C (p.Lys658Asn) rs587777650
NM_139276.3(STAT3):c.1974G>T (p.Lys658Asn) rs587777650
NM_139276.3(STAT3):c.1988C>T (p.Thr663Ile) rs869312889
NM_139276.3(STAT3):c.2107G>A (p.Ala703Thr) rs869312894
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.2258-2A>G
NM_139276.3(STAT3):c.454C>T (p.Arg152Trp) rs869312890
NM_139276.3(STAT3):c.551-1G>C rs1598423756
NM_139276.3(STAT3):c.986T>G (p.Met329Arg) rs1555566820

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