ClinVar Miner

List of variants reported as benign for Hyper-IgE recurrent infection syndrome 1, autosomal dominant by Illumina Laboratory Services, Illumina

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Total variants: 21
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HGVS dbSNP gnomAD frequency
NM_139276.3(STAT3):c.*1671C>T rs1053004 0.48332
NM_139276.3(STAT3):c.*1325A>G rs3744483 0.26991
NM_139276.3(STAT3):c.*2147A>G rs1053023 0.26115
NM_139276.3(STAT3):c.*1853A>G rs1053005 0.25236
NM_139276.3(STAT3):c.*584T>G rs11079042 0.03176
NM_139276.3(STAT3):c.*1517G>A rs75454844 0.01817
NM_139276.3(STAT3):c.1654-11C>G rs17882035 0.00856
NM_139276.3(STAT3):c.*1931A>G rs138326799 0.00803
NM_139276.3(STAT3):c.1381G>C (p.Val461Leu) rs149214040 0.00612
NM_139276.3(STAT3):c.*669C>T rs138998960 0.00552
NM_139276.3(STAT3):c.*582A>T rs115090026 0.00465
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.*730G>A rs555637030 0.00120
NM_139276.3(STAT3):c.1854C>T (p.Gly618=) rs117691970 0.00089
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.*1125G>A rs377364072 0.00030
NM_139276.3(STAT3):c.825T>G (p.Leu275=) rs200098006 0.00023
NM_139276.3(STAT3):c.405C>T (p.Ala135=) rs201846078 0.00008
NM_139276.3(STAT3):c.2091T>A (p.Ala697=) rs200529713 0.00007

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