ClinVar Miner

List of variants in gene STAT3 reported as benign for Hyper-IgE recurrent infection syndrome 1, autosomal dominant; STAT3 gain of function

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 39
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
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.1654-11C>G rs17882035 0.00917
NM_139276.3(STAT3):c.1381G>C (p.Val461Leu) rs149214040 0.00612
NM_139276.3(STAT3):c.1680C>T (p.Ser560=) rs146817483 0.00145
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.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.2091T>A (p.Ala697=) rs200529713 0.00006
NM_139276.3(STAT3):c.2295C>T (p.Cys765=) rs145244024 0.00006
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

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.