ClinVar Miner

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

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ClinVar version:
Total variants: 244
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HGVS dbSNP gnomAD frequency
NM_139276.3(STAT3):c.1492A>G (p.Ile498Val) rs146620441 0.00078
NM_139276.3(STAT3):c.1776G>A (p.Glu592=) rs370905622 0.00019
NM_139276.3(STAT3):c.2049C>T (p.Phe683=) rs373256669 0.00017
NM_139276.3(STAT3):c.309G>C (p.Arg103=) rs17880940 0.00017
NM_139276.3(STAT3):c.681G>A (p.Ala227=) rs775680553 0.00016
NM_139276.3(STAT3):c.1234-4dup rs763332844 0.00011
NM_139276.3(STAT3):c.2228G>T (p.Gly743Val) rs151033214 0.00011
NM_139276.3(STAT3):c.274-11C>T rs369440608 0.00010
NM_139276.3(STAT3):c.373-4G>C rs376611360 0.00010
NM_139276.3(STAT3):c.1109+13A>G rs201856889 0.00009
NM_139276.3(STAT3):c.1263G>A (p.Gly421=) rs141151719 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.1566C>T (p.Ile522=) rs1044069148 0.00008
NM_139276.3(STAT3):c.405C>T (p.Ala135=) rs201846078 0.00008
NM_139276.3(STAT3):c.1282-10G>A rs547178731 0.00006
NM_139276.3(STAT3):c.366G>A (p.Ala122=) rs964141843 0.00006
NM_139276.3(STAT3):c.804G>A (p.Thr268=) rs755554248 0.00006
NM_139276.3(STAT3):c.1234-7C>T rs578087107 0.00005
NM_139276.3(STAT3):c.2296G>A (p.Ala766Thr) rs779485558 0.00005
NM_139276.3(STAT3):c.414G>A (p.Thr138=) rs765452694 0.00005
NM_139276.3(STAT3):c.1465-14G>A rs753899692 0.00004
NM_139276.3(STAT3):c.1601-12T>G rs769196370 0.00004
NM_139276.3(STAT3):c.1878G>A (p.Lys626=) rs774445141 0.00004
NM_139276.3(STAT3):c.1920C>T (p.Tyr640=) rs751536580 0.00004
NM_139276.3(STAT3):c.1968C>T (p.Gly656=) rs777585143 0.00004
NM_139276.3(STAT3):c.365C>T (p.Ala122Val) rs774724351 0.00004
NM_139276.3(STAT3):c.552C>T (p.Asp184=) rs202126764 0.00004
NM_139276.3(STAT3):c.956+10C>T rs754005688 0.00004
NM_139276.3(STAT3):c.1366-4G>A rs373653543 0.00003
NM_139276.3(STAT3):c.1366-9C>T rs375054973 0.00003
NM_139276.3(STAT3):c.2298T>C (p.Ala766=) rs1243900024 0.00003
NM_139276.3(STAT3):c.690C>T (p.Tyr230=) rs746151758 0.00003
NM_139276.3(STAT3):c.834T>C (p.Arg278=) rs751849047 0.00003
NM_139276.3(STAT3):c.1110-14C>G rs768443734 0.00002
NM_139276.3(STAT3):c.1122C>T (p.Asp374=) rs376080249 0.00002
NM_139276.3(STAT3):c.1282-11C>T rs1216348004 0.00002
NM_139276.3(STAT3):c.1425G>A (p.Ala475=) rs780713214 0.00002
NM_139276.3(STAT3):c.2289G>A (p.Ser763=) rs147202525 0.00002
NM_139276.3(STAT3):c.247C>T (p.Leu83=) rs770878694 0.00002
NM_139276.3(STAT3):c.27G>A (p.Gln9=) rs1297352056 0.00002
NM_139276.3(STAT3):c.551-5C>T rs747407875 0.00002
NM_139276.3(STAT3):c.581C>T (p.Ser194Leu) rs895801743 0.00002
NM_139276.3(STAT3):c.9A>G (p.Gln3=) rs749859511 0.00002
NM_139276.3(STAT3):c.1047C>T (p.Val349=) rs779464807 0.00001
NM_139276.3(STAT3):c.1059C>T (p.Val353=) rs774847480 0.00001
NM_139276.3(STAT3):c.1066C>A (p.Pro356Thr) rs1456534236 0.00001
NM_139276.3(STAT3):c.1110-6T>C rs775756879 0.00001
NM_139276.3(STAT3):c.1230C>T (p.His410=) rs138001349 0.00001
NM_139276.3(STAT3):c.1264G>A (p.Gly422Ser) rs1220754190 0.00001
NM_139276.3(STAT3):c.1366-11T>C rs761523186 0.00001
NM_139276.3(STAT3):c.138G>A (p.Ala46=) rs760775429 0.00001
NM_139276.3(STAT3):c.1601-8_1601-7insG rs1555564070 0.00001
NM_139276.3(STAT3):c.1888+7G>A rs745680968 0.00001
NM_139276.3(STAT3):c.2104G>A (p.Ala702Thr) rs747667389 0.00001
NM_139276.3(STAT3):c.2200T>C (p.Leu734=) rs746221967 0.00001
NM_139276.3(STAT3):c.2258-14G>A rs763997609 0.00001
NM_139276.3(STAT3):c.2301C>T (p.Thr767=) rs955268684 0.00001
NM_139276.3(STAT3):c.308G>A (p.Arg103Gln) rs1417279405 0.00001
NM_139276.3(STAT3):c.327G>A (p.Leu109=) rs759676110 0.00001
NM_139276.3(STAT3):c.348A>G (p.Leu116=) rs200960081 0.00001
NM_139276.3(STAT3):c.372+10G>C rs766222549 0.00001
NM_139276.3(STAT3):c.373C>G (p.Gln125Glu) rs574370336 0.00001
NM_139276.3(STAT3):c.38G>A (p.Arg13Gln) rs780720013 0.00001
NM_139276.3(STAT3):c.426G>A (p.Gln142=) rs774823374 0.00001
NM_139276.3(STAT3):c.465G>A (p.Val155=) rs1567723282 0.00001
NM_139276.3(STAT3):c.528T>C (p.Tyr176=) rs1191130127 0.00001
NM_139276.3(STAT3):c.537C>T (p.Leu179=) rs779055365 0.00001
NM_139276.3(STAT3):c.558A>G (p.Gln186=) rs768898076 0.00001
NM_139276.3(STAT3):c.621C>T (p.Leu207=) rs758449863 0.00001
NM_139276.3(STAT3):c.645+15C>T rs772535269 0.00001
NM_139276.3(STAT3):c.645+8C>A rs760976357 0.00001
NM_139276.3(STAT3):c.646-7C>T rs993067731 0.00001
NM_139276.3(STAT3):c.651C>T (p.Ile217=) rs377095381 0.00001
NM_139276.3(STAT3):c.657T>C (p.Ser219=) rs886052943 0.00001
NM_139276.3(STAT3):c.746T>C (p.Ile249Thr) rs767159289 0.00001
NM_139276.3(STAT3):c.879C>T (p.Tyr293=) rs147186377 0.00001
NM_139276.3(STAT3):c.927C>T (p.Ile309=) rs779733888 0.00001
NM_139276.3(STAT3):c.957-14T>C rs767645094 0.00001
NM_139276.3(STAT3):c.990C>T (p.Pro330=) rs1278437970 0.00001
NM_139276.3(STAT3):c.1049+18del
NM_139276.3(STAT3):c.1049+19A>T
NM_139276.3(STAT3):c.1049+7C>T
NM_139276.3(STAT3):c.1050-19A>G
NM_139276.3(STAT3):c.1050-5A>C
NM_139276.3(STAT3):c.1051T>C (p.Leu351=)
NM_139276.3(STAT3):c.1080T>C (p.Tyr360=)
NM_139276.3(STAT3):c.1110-10_1110-9del rs756313613
NM_139276.3(STAT3):c.1110-13T>C
NM_139276.3(STAT3):c.1110-14C>T
NM_139276.3(STAT3):c.1110-19_1110-17del rs777823264
NM_139276.3(STAT3):c.1116T>C (p.Ser372=) rs770311773
NM_139276.3(STAT3):c.1135A>C (p.Arg379=)
NM_139276.3(STAT3):c.1139+18G>A rs758662811
NM_139276.3(STAT3):c.1140-16T>C rs2144775511
NM_139276.3(STAT3):c.1204G>A (p.Gly402Ser)
NM_139276.3(STAT3):c.1206C>A (p.Gly402=) rs2081904025
NM_139276.3(STAT3):c.1233+11G>A
NM_139276.3(STAT3):c.1233+14G>A
NM_139276.3(STAT3):c.1233+20C>T rs761232183
NM_139276.3(STAT3):c.1234-12C>G
NM_139276.3(STAT3):c.1234-18C>G
NM_139276.3(STAT3):c.1234-5T>A
NM_139276.3(STAT3):c.1234-8T>C
NM_139276.3(STAT3):c.1234-9T>G
NM_139276.3(STAT3):c.128+10T>C
NM_139276.3(STAT3):c.128+17T>A rs2145012997
NM_139276.3(STAT3):c.128+20C>T rs760132797
NM_139276.3(STAT3):c.128+9T>C
NM_139276.3(STAT3):c.1281+10G>T rs2081892698
NM_139276.3(STAT3):c.1281+11T>C rs776564054
NM_139276.3(STAT3):c.1281+13G>A rs746822298
NM_139276.3(STAT3):c.1281+16G>A
NM_139276.3(STAT3):c.1281+20A>G
NM_139276.3(STAT3):c.1282-14T>C
NM_139276.3(STAT3):c.129-13T>C rs1304342031
NM_139276.3(STAT3):c.129-18del
NM_139276.3(STAT3):c.129-19T>A
NM_139276.3(STAT3):c.129-20A>G
NM_139276.3(STAT3):c.129-4C>G rs1567730026
NM_139276.3(STAT3):c.1299T>C (p.Thr433=)
NM_139276.3(STAT3):c.1306C>T (p.Leu436=)
NM_139276.3(STAT3):c.1350C>T (p.Leu450=)
NM_139276.3(STAT3):c.1365+18A>G
NM_139276.3(STAT3):c.1365+8C>G rs779644968
NM_139276.3(STAT3):c.1366-5C>T
NM_139276.3(STAT3):c.1368C>T (p.Thr456=) rs769425072
NM_139276.3(STAT3):c.1377G>A (p.Leu459=) rs2144718565
NM_139276.3(STAT3):c.1380A>G (p.Pro460=) rs1598397624
NM_139276.3(STAT3):c.1395C>T (p.Ser465=) rs2144718414
NM_139276.3(STAT3):c.1434G>C (p.Leu478=)
NM_139276.3(STAT3):c.1453A>G (p.Asn485Asp)
NM_139276.3(STAT3):c.1464+11C>T
NM_139276.3(STAT3):c.1464+14C>T
NM_139276.3(STAT3):c.1464+18T>G
NM_139276.3(STAT3):c.1465-10T>C rs2144716321
NM_139276.3(STAT3):c.1465-8T>C
NM_139276.3(STAT3):c.14A>G (p.Asn5Ser)
NM_139276.3(STAT3):c.1536C>T (p.Phe512=) rs1598397048
NM_139276.3(STAT3):c.1600+11C>T rs1204881810
NM_139276.3(STAT3):c.1600+15C>G
NM_139276.3(STAT3):c.1600+7A>G
NM_139276.3(STAT3):c.1601-18T>C rs1186001068
NM_139276.3(STAT3):c.1601-19C>T
NM_139276.3(STAT3):c.1601-20A>C
NM_139276.3(STAT3):c.1601-7C>T
NM_139276.3(STAT3):c.1601-7_1601-6insT
NM_139276.3(STAT3):c.1602A>T (p.Gly534=)
NM_139276.3(STAT3):c.1635A>G (p.Thr545=)
NM_139276.3(STAT3):c.1641T>C (p.Ala547=) rs2144701304
NM_139276.3(STAT3):c.1653+14T>A rs992672280
NM_139276.3(STAT3):c.1653+7A>G
NM_139276.3(STAT3):c.1654-19C>T
NM_139276.3(STAT3):c.1710C>T (p.Asp570=) rs948739783
NM_139276.3(STAT3):c.1749-12C>G rs1361828304
NM_139276.3(STAT3):c.1749-15C>T
NM_139276.3(STAT3):c.1749-17C>T
NM_139276.3(STAT3):c.1749-18C>T
NM_139276.3(STAT3):c.1799C>G (p.Thr600Ser)
NM_139276.3(STAT3):c.1855G>A (p.Val619Ile)
NM_139276.3(STAT3):c.1866T>G (p.Thr622=)
NM_139276.3(STAT3):c.1888+9G>A rs1555563840
NM_139276.3(STAT3):c.1889-12G>A rs1418148445
NM_139276.3(STAT3):c.1889-14A>G
NM_139276.3(STAT3):c.1889-14A>T
NM_139276.3(STAT3):c.1889-15C>T
NM_139276.3(STAT3):c.1889-16C>T
NM_139276.3(STAT3):c.1917A>G (p.Pro639=) rs2144683509
NM_139276.3(STAT3):c.2007A>C (p.Pro669=)
NM_139276.3(STAT3):c.2022T>C (p.Tyr674=)
NM_139276.3(STAT3):c.2034C>G (p.Pro678=)
NM_139276.3(STAT3):c.2043G>A (p.Glu681=)
NM_139276.3(STAT3):c.2064G>A (p.Arg688=) rs2144678627
NM_139276.3(STAT3):c.2094C>T (p.Asp698=)
NM_139276.3(STAT3):c.2101+17G>T
NM_139276.3(STAT3):c.2101+20C>A
NM_139276.3(STAT3):c.2103C>T (p.Ser701=)
NM_139276.3(STAT3):c.2142A>C (p.Thr714=)
NM_139276.3(STAT3):c.2144+7G>A rs2081286912
NM_139276.3(STAT3):c.2145-14_2145-12del rs751757124
NM_139276.3(STAT3):c.2145-16C>T
NM_139276.3(STAT3):c.2145-17C>T
NM_139276.3(STAT3):c.2145-5dup rs1436308423
NM_139276.3(STAT3):c.2163C>G (p.Thr721=) rs768099770
NM_139276.3(STAT3):c.2250G>A (p.Gly750=)
NM_139276.3(STAT3):c.2258-16_2258-15del
NM_139276.3(STAT3):c.2258-6_2258-3del
NM_139276.3(STAT3):c.2258-8C>G
NM_139276.3(STAT3):c.225G>T (p.Ser75=)
NM_139276.3(STAT3):c.2268C>T (p.Thr756=)
NM_139276.3(STAT3):c.2297C>T (p.Ala766Val)
NM_139276.3(STAT3):c.2304C>T (p.Ser768=)
NM_139276.3(STAT3):c.2307C>G (p.Pro769=) rs2081221437
NM_139276.3(STAT3):c.252A>T (p.Arg84=)
NM_139276.3(STAT3):c.264G>A (p.Gln88=)
NM_139276.3(STAT3):c.273+12_273+20del
NM_139276.3(STAT3):c.274-4A>G rs2144979531
NM_139276.3(STAT3):c.274-8A>T rs772586829
NM_139276.3(STAT3):c.300G>A (p.Glu100=) rs1407142328
NM_139276.3(STAT3):c.303T>C (p.Ile101=) rs747612981
NM_139276.3(STAT3):c.312T>C (p.Ile104=) rs973225676
NM_139276.3(STAT3):c.327G>T (p.Leu109=)
NM_139276.3(STAT3):c.363T>A (p.Thr121=)
NM_139276.3(STAT3):c.372+15A>C
NM_139276.3(STAT3):c.373-14C>G
NM_139276.3(STAT3):c.373-17G>A rs2144896877
NM_139276.3(STAT3):c.381C>T (p.Gly127=)
NM_139276.3(STAT3):c.393C>T (p.His131=)
NM_139276.3(STAT3):c.432G>A (p.Leu144=)
NM_139276.3(STAT3):c.435G>A (p.Glu145=)
NM_139276.3(STAT3):c.468+7C>G
NM_139276.3(STAT3):c.469-10_469-6del
NM_139276.3(STAT3):c.469-19del rs2144888522
NM_139276.3(STAT3):c.51G>A (p.Gln17=) rs924708899
NM_139276.3(STAT3):c.523A>C (p.Asn175His) rs758408552
NM_139276.3(STAT3):c.551-18T>C
NM_139276.3(STAT3):c.551-4G>T rs80162032
NM_139276.3(STAT3):c.551-57_551-18del rs768181932
NM_139276.3(STAT3):c.551-77ATTCCCTCAGGTCAAGGAGT[2] rs768181932
NM_139276.3(STAT3):c.562C>A (p.Leu188Met)
NM_139276.3(STAT3):c.585G>A (p.Val195=) rs1473863737
NM_139276.3(STAT3):c.627G>A (p.Ala209=) rs759225787
NM_139276.3(STAT3):c.627G>C (p.Ala209=) rs759225787
NM_139276.3(STAT3):c.63C>G (p.Leu21=)
NM_139276.3(STAT3):c.646-13G>T
NM_139276.3(STAT3):c.646-8C>A
NM_139276.3(STAT3):c.652G>C (p.Val218Leu)
NM_139276.3(STAT3):c.708G>C (p.Thr236=) rs1007672644
NM_139276.3(STAT3):c.70G>A (p.Asp24Asn) rs751281347
NM_139276.3(STAT3):c.720G>A (p.Leu240=)
NM_139276.3(STAT3):c.750C>T (p.Ala250=)
NM_139276.3(STAT3):c.765G>A (p.Pro255=)
NM_139276.3(STAT3):c.797+13A>G
NM_139276.3(STAT3):c.797+17G>A
NM_139276.3(STAT3):c.797+18C>T
NM_139276.3(STAT3):c.798-20C>G
NM_139276.3(STAT3):c.810A>G (p.Leu270=)
NM_139276.3(STAT3):c.903C>T (p.His301=)
NM_139276.3(STAT3):c.928G>A (p.Val310Met)
NM_139276.3(STAT3):c.952A>G (p.Lys318Glu)
NM_139276.3(STAT3):c.956+9G>A
NM_139276.3(STAT3):c.957-7del rs1598415005
NM_139276.3(STAT3):c.960C>T (p.Ala320=) rs2082118314
NM_139276.3(STAT3):c.981C>G (p.Pro327=) rs2082117714

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