ClinVar Miner

List of variants reported as pathogenic for hyper-IgE recurrent infection syndrome 1, autosomal dominant

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 82
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_139276.3(STAT3):c.1268G>A (p.Arg423Gln) rs113994137 0.00001
NM_139276.3(STAT3):c.833G>A (p.Arg278His) rs2082128828 0.00001
NM_203447.4(DOCK8):c.1174C>T (p.Gln392Ter) rs372598000 0.00001
NM_203447.4(DOCK8):c.2971-1G>A rs777066716 0.00001
NM_203447.4(DOCK8):c.850_851del (p.Leu284fs) rs762990689 0.00001
NM_203447.4(DOCK8):c.949C>T (p.Arg317Ter) rs113432057 0.00001
NM_139276.3(STAT3):c.1003C>T (p.Arg335Trp) rs193922716
NM_139276.3(STAT3):c.1110-2A>G rs2144778323
NM_139276.3(STAT3):c.1144C>T (p.Arg382Trp) rs113994135
NM_139276.3(STAT3):c.1145G>A (p.Arg382Gln) rs113994136
NM_139276.3(STAT3):c.1145G>C (p.Arg382Pro)
NM_139276.3(STAT3):c.1145G>T (p.Arg382Leu) rs113994136
NM_139276.3(STAT3):c.1166C>T (p.Thr389Ile) rs397514766
NM_139276.3(STAT3):c.1181T>C (p.Met394Thr)
NM_139276.3(STAT3):c.1228C>T (p.His410Tyr) rs2081903545
NM_139276.3(STAT3):c.1261G>A (p.Gly421Arg) rs869312888
NM_139276.3(STAT3):c.1311C>A (p.His437Gln) rs1598399795
NM_139276.3(STAT3):c.1384GTG[1] (p.Val463del) rs113994138
NM_139276.3(STAT3):c.1397A>C (p.Asn466Thr) rs1057521091
NM_139276.3(STAT3):c.1397A>G (p.Asn466Ser) rs1057521091
NM_139276.3(STAT3):c.1853G>A (p.Gly618Asp) rs1555563871
NM_139276.3(STAT3):c.1858A>G (p.Thr620Ala)
NM_139276.3(STAT3):c.1859C>G (p.Thr620Ser) rs1567708034
NM_139276.3(STAT3):c.1865C>T (p.Thr622Ile)
NM_139276.3(STAT3):c.1907C>A (p.Ser636Tyr)
NM_139276.3(STAT3):c.1907C>T (p.Ser636Phe)
NM_139276.3(STAT3):c.1909G>A (p.Val637Met) rs113994139
NM_139276.3(STAT3):c.1910T>C (p.Val637Ala)
NM_139276.3(STAT3):c.1915C>A (p.Pro639Thr)
NM_139276.3(STAT3):c.1915C>G (p.Pro639Ala) rs2144683531
NM_139276.3(STAT3):c.1934T>A (p.Leu645Gln)
NM_139276.3(STAT3):c.1970A>G (p.Tyr657Cys) rs193922721
NM_139276.3(STAT3):c.1976T>A (p.Ile659Asn) rs1555563717
NM_139276.3(STAT3):c.1979T>C (p.Met660Thr) rs886039434
NM_139276.3(STAT3):c.2116C>A (p.Leu706Met) rs2144622987
NM_139276.3(STAT3):c.2117T>C (p.Leu706Pro) rs1131691476
NM_139276.3(STAT3):c.2137G>T (p.Val713Leu)
NM_139276.3(STAT3):c.2141C>T (p.Thr714Ile) rs2081287195
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.454C>T (p.Arg152Trp) rs869312890
NM_139276.3(STAT3):c.985A>G (p.Met329Val)
NM_139276.3(STAT3):c.986T>A (p.Met329Lys) rs1555566820
NM_139276.3(STAT3):c.994C>T (p.His332Tyr) rs2144827923
NM_203447.4(DOCK8):c.1125+1G>A
NM_203447.4(DOCK8):c.1134_1138del (p.Glu378fs)
NM_203447.4(DOCK8):c.1271_1274dup (p.Ser426fs) rs2130879011
NM_203447.4(DOCK8):c.1418A>G (p.Lys473Arg) rs112321280
NM_203447.4(DOCK8):c.1470del (p.Tyr491fs)
NM_203447.4(DOCK8):c.1473del (p.Asp490_Tyr491insTer)
NM_203447.4(DOCK8):c.1497_1501del (p.Arg499fs)
NM_203447.4(DOCK8):c.1589_1614del (p.Val530fs)
NM_203447.4(DOCK8):c.1648C>T (p.Arg550Ter) rs1057518028
NM_203447.4(DOCK8):c.1878del (p.Tyr628fs)
NM_203447.4(DOCK8):c.1963C>T (p.Gln655Ter) rs1287635563
NM_203447.4(DOCK8):c.2010dup (p.Leu671fs)
NM_203447.4(DOCK8):c.2464G>T (p.Glu822Ter) rs372503899
NM_203447.4(DOCK8):c.27_28del (p.Ala11fs) rs1312725371
NM_203447.4(DOCK8):c.310C>T (p.Gln104Ter)
NM_203447.4(DOCK8):c.3339del (p.Phe1113fs) rs748134881
NM_203447.4(DOCK8):c.3340dup (p.Met1114fs)
NM_203447.4(DOCK8):c.3371_3377dup (p.Ile1127fs)
NM_203447.4(DOCK8):c.3500_3507dup (p.Ala1170fs) rs112659914
NM_203447.4(DOCK8):c.3547del (p.Arg1183fs)
NM_203447.4(DOCK8):c.3550A>T (p.Lys1184Ter)
NM_203447.4(DOCK8):c.3803del (p.Phe1268fs) rs2056112807
NM_203447.4(DOCK8):c.4070C>A (p.Ser1357Ter)
NM_203447.4(DOCK8):c.4162C>T (p.Arg1388Ter) rs1476130680
NM_203447.4(DOCK8):c.4163del (p.Arg1388fs) rs2131648737
NM_203447.4(DOCK8):c.4215G>A (p.Trp1405Ter)
NM_203447.4(DOCK8):c.4235dup (p.Asp1413fs)
NM_203447.4(DOCK8):c.4974C>G (p.Tyr1658Ter)
NM_203447.4(DOCK8):c.510C>A (p.Cys170Ter)
NM_203447.4(DOCK8):c.5161C>T (p.Gln1721Ter) rs754989398
NM_203447.4(DOCK8):c.5261del (p.Leu1754fs) rs886041815
NM_203447.4(DOCK8):c.5386C>T (p.Arg1796Ter) rs775544616
NM_203447.4(DOCK8):c.5481dup (p.Arg1828Ter) rs2131814069
NM_203447.4(DOCK8):c.6019dup (p.Tyr2007fs) rs869312169
NM_203447.4(DOCK8):c.6022C>T (p.Arg2008Ter)
NM_203447.4(DOCK8):c.6115C>T (p.Gln2039Ter) rs2131982095
NM_203447.4(DOCK8):c.760del (p.Arg254fs) rs2130746906
NM_203447.4(DOCK8):c.851del (p.Leu284fs) rs2130807292

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.