ClinVar Miner

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

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 56
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HGVS dbSNP gnomAD frequency
NM_139276.3(STAT3):c.1233+43C>G rs2293152 0.66160
NM_139276.3(STAT3):c.*1671C>T rs1053004 0.48332
NM_139276.3(STAT3):c.*1325A>G rs3744483 0.26908
NM_139276.3(STAT3):c.*2147A>G rs1053023 0.26115
NM_139276.3(STAT3):c.*1853A>G rs1053005 0.25080
NM_139276.3(STAT3):c.1049+452C>A rs17881320 0.06054
NM_139276.3(STAT3):c.2144+20C>T rs8069115 0.03624
NM_139276.3(STAT3):c.*584T>G rs11079042 0.03176
NM_139276.3(STAT3):c.*1517G>A rs75454844 0.01966
NM_139276.3(STAT3):c.1654-11C>G rs17882035 0.00917
NM_139276.3(STAT3):c.*1931A>G rs138326799 0.00808
NM_139276.3(STAT3):c.1381G>C (p.Val461Leu) rs149214040 0.00612
NM_139276.3(STAT3):c.*669C>T rs138998960 0.00592
NM_139276.3(STAT3):c.*582A>T rs115090026 0.00503
NM_139276.3(STAT3):c.*1383G>C rs183293865 0.00366
NM_139276.3(STAT3):c.*211A>C rs41289087 0.00248
NM_139276.3(STAT3):c.1680C>T (p.Ser560=) rs146817483 0.00145
NM_139276.3(STAT3):c.*730G>A rs555637030 0.00120
NM_139276.3(STAT3):c.551-4G>A rs80162032 0.00115
NM_139276.3(STAT3):c.1329C>T (p.Thr443=) rs147955721 0.00091
NM_139276.3(STAT3):c.1854C>T (p.Gly618=) rs117691970 0.00089
NM_139276.3(STAT3):c.225G>A (p.Ser75=) rs146184566 0.00089
NM_139276.3(STAT3):c.2281T>C (p.Leu761=) rs142236792 0.00054
NM_139276.3(STAT3):c.*402G>A rs186798539 0.00050
NM_139276.3(STAT3):c.*1316A>G rs552123985 0.00033
NM_139276.3(STAT3):c.825T>G (p.Leu275=) rs200098006 0.00023
NM_139276.3(STAT3):c.1011C>T (p.Leu337=) rs200623682 0.00020
NM_139276.3(STAT3):c.2288C>T (p.Ser763Leu) rs140604473 0.00014
NM_139276.3(STAT3):c.1143C>G (p.Ser381=) rs143571879 0.00013
NM_139276.3(STAT3):c.2082T>A (p.His694Gln) rs139701269 0.00011
NM_139276.3(STAT3):c.1233+19C>T rs764434579 0.00010
NM_139276.3(STAT3):c.405C>T (p.Ala135=) rs201846078 0.00008
NM_139276.3(STAT3):c.2091T>A (p.Ala697=) rs200529713 0.00006
NM_139276.3(STAT3):c.2295C>T (p.Cys765=) rs145244024 0.00006
NM_139276.3(STAT3):c.*1125G>A rs377364072 0.00005
NM_139276.3(STAT3):c.513C>T (p.Asp171=) rs777828006 0.00004
NM_139276.3(STAT3):c.1465-16G>A rs189319171 0.00003
NM_139276.3(STAT3):c.2223T>C (p.Gly741=) rs778445506 0.00002
NM_139276.3(STAT3):c.1123G>A (p.Val375Ile) rs781724933 0.00001
NM_139276.3(STAT3):c.1687G>A (p.Val563Ile) rs749943696 0.00001
NM_139276.3(STAT3):c.1743C>T (p.Asn581=) rs1141144 0.00001
NM_139276.3(STAT3):c.1050-13dup
NM_139276.3(STAT3):c.1191A>G (p.Glu397=)
NM_139276.3(STAT3):c.1200C>T (p.Asn400=)
NM_139276.3(STAT3):c.1335G>A (p.Val445=)
NM_139276.3(STAT3):c.1515C>T (p.Ala505=)
NM_139276.3(STAT3):c.1597T>C (p.Leu533=)
NM_139276.3(STAT3):c.1601-10dup rs3830585
NM_139276.3(STAT3):c.2145-12dup
NM_139276.3(STAT3):c.2174C>T (p.Pro725Leu)
NM_139276.3(STAT3):c.2294G>A (p.Cys765Tyr)
NM_139276.3(STAT3):c.2299A>G (p.Thr767Ala)
NM_139276.3(STAT3):c.373-6dup
NM_139276.3(STAT3):c.48G>A (p.Glu16=)
NM_139276.3(STAT3):c.551-137_551-18del rs1567722156
NM_139276.3(STAT3):c.551-77ATTCCCTCAGGTCAAGGAGT[4] rs768181932

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