ClinVar Miner

List of variants studied for hyper-IgE recurrent infection syndrome 1, autosomal dominant by Illumina Laboratory Services, Illumina

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 66
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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 0.26908
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.*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.*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_139276.2(STAT3):c.-195G>C rs780393027 0.00041
NM_139276.3(STAT3):c.-140C>T rs528219097 0.00035
NM_139276.3(STAT3):c.*1316A>G rs552123985 0.00033
NM_139276.3(STAT3):c.*895A>G rs537640981 0.00030
NM_139276.3(STAT3):c.825T>G (p.Leu275=) rs200098006 0.00023
NM_139276.3(STAT3):c.*2144C>T rs886052932 0.00020
NM_139276.3(STAT3):c.*1497G>A rs190710939 0.00012
NM_139276.3(STAT3):c.*260G>A rs886052940 0.00011
NM_139276.3(STAT3):c.*1645C>T rs1055885995 0.00010
NM_139276.3(STAT3):c.1109+13A>G rs201856889 0.00009
NM_139276.3(STAT3):c.1237C>T (p.Leu413=) rs146946014 0.00008
NM_139276.3(STAT3):c.1519G>T (p.Val507Phe) rs145786768 0.00008
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.*1125G>A rs377364072 0.00005
NM_139276.3(STAT3):c.*607C>T rs969407289 0.00005
NM_139276.3(STAT3):c.*1196T>C rs193126798 0.00004
NM_139276.2(STAT3):c.-211G>T rs902564848 0.00003
NM_139276.3(STAT3):c.*165T>G rs930137822 0.00003
NM_139276.3(STAT3):c.*1970A>G rs1475716153 0.00003
NM_139276.3(STAT3):c.*2002G>A rs531760487 0.00003
NM_139276.3(STAT3):c.-162A>G rs886052945 0.00003
NM_139276.3(STAT3):c.*1011A>G rs1321545484 0.00001
NM_139276.3(STAT3):c.*594G>A rs1405453923 0.00001
NM_139276.3(STAT3):c.-55C>G rs886052944 0.00001
NM_139276.3(STAT3):c.1050G>A (p.Arg350=) rs771738153 0.00001
NM_139276.3(STAT3):c.645+15C>T rs772535269 0.00001
NM_139276.3(STAT3):c.657T>C (p.Ser219=) rs886052943 0.00001
NM_139276.2(STAT3):c.-226C>T rs1567768628
NM_139276.3(STAT3):c.*1082G>A rs184030721
NM_139276.3(STAT3):c.*1266G>A rs886052938
NM_139276.3(STAT3):c.*1270C>T rs886052937
NM_139276.3(STAT3):c.*1415C>G rs886052936
NM_139276.3(STAT3):c.*1673C>T rs886052935
NM_139276.3(STAT3):c.*1675T>C rs886052934
NM_139276.3(STAT3):c.*1850C>G rs886052933
NM_139276.3(STAT3):c.*1850C>T rs886052933
NM_139276.3(STAT3):c.*1891C>T rs1240359704
NM_139276.3(STAT3):c.*2255G>T rs886052931
NM_139276.3(STAT3):c.*31C>T rs374107124
NM_139276.3(STAT3):c.*608A>G rs2081203585
NM_139276.3(STAT3):c.*646T>C rs886052939
NM_139276.3(STAT3):c.-139G>A rs17883843
NM_139276.3(STAT3):c.-157A>G rs1170853204
NM_139276.3(STAT3):c.-69C>T rs994095771
NM_139276.3(STAT3):c.1428C>T (p.Ser476=) rs369714894
NM_139276.3(STAT3):c.1963A>T (p.Met655Leu) rs2081520804
NM_139276.3(STAT3):c.2216A>G (p.Asn739Ser) rs886052941
NM_139276.3(STAT3):c.249A>G (p.Leu83=) rs2082709923
NM_139276.3(STAT3):c.311T>C (p.Ile104Thr) rs2082662438

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