ClinVar Miner

List of variants in gene STAT3 reported as uncertain significance for B cell deficiency

Included ClinVar conditions (66):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 252
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HGVS dbSNP gnomAD frequency
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.*895A>G rs537640981 0.00030
NM_139276.3(STAT3):c.*2144C>T rs886052932 0.00020
NM_139276.3(STAT3):c.2049C>T (p.Phe683=) rs373256669 0.00017
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.2228G>T (p.Gly743Val) rs151033214 0.00011
NM_139276.3(STAT3):c.*1645C>T rs1055885995 0.00010
NM_139276.3(STAT3):c.*2002G>A rs531760487 0.00008
NM_139276.3(STAT3):c.274-3T>C rs375237933 0.00006
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.1361T>C (p.Leu454Pro) rs748564923 0.00003
NM_139276.3(STAT3):c.1012G>A (p.Val338Ile) rs371953916 0.00002
NM_139276.3(STAT3):c.1600+4C>T rs773000843 0.00002
NM_139276.3(STAT3):c.2050G>C (p.Gly684Arg) rs780466766 0.00002
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.-162A>G rs886052945 0.00001
NM_139276.3(STAT3):c.1049G>T (p.Arg350Met) rs755524497 0.00001
NM_139276.3(STAT3):c.1050G>A (p.Arg350=) rs771738153 0.00001
NM_139276.3(STAT3):c.1442A>G (p.Asn481Ser) rs2081644374 0.00001
NM_139276.3(STAT3):c.1757T>C (p.Met586Thr) rs1459473021 0.00001
NM_139276.3(STAT3):c.1887C>T (p.Ser629=) rs769658142 0.00001
NM_139276.3(STAT3):c.1919A>T (p.Tyr640Phe) rs769031989 0.00001
NM_139276.3(STAT3):c.1981G>T (p.Asp661Tyr) rs747639500 0.00001
NM_139276.3(STAT3):c.2303C>T (p.Ser768Phe) rs1191676333 0.00001
NM_139276.3(STAT3):c.2308A>G (p.Met770Val) rs1372796820 0.00001
NM_139276.3(STAT3):c.307C>T (p.Arg103Trp) rs1408283351 0.00001
NM_139276.3(STAT3):c.319C>T (p.Arg107Trp) rs2082662047 0.00001
NM_139276.3(STAT3):c.341G>A (p.Arg114His) rs1344978308 0.00001
NM_139276.3(STAT3):c.368C>T (p.Ala123Val) rs1475754644 0.00001
NM_139276.3(STAT3):c.375A>G (p.Gln125=) rs747081170 0.00001
NM_139276.3(STAT3):c.645+16G>A rs548066920 0.00001
NM_139276.3(STAT3):c.645+6G>A rs766072381 0.00001
NM_139276.3(STAT3):c.798-3C>G rs1436513249 0.00001
NC_000017.10:g.(?_40467763)_(40467838_?)del
NC_000017.10:g.(?_40467763)_(40486087_?)dup
NC_000017.10:g.(?_40467763)_(40491447_?)dup
NC_000017.10:g.(?_40474280)_(40478306_?)del
NC_000017.10:g.(?_40481408)_(40491447_?)dup
NC_000017.10:g.(?_40489433)_(40489895_?)del
NM_139276.2(STAT3):c.-226C>T rs1567768628
NM_139276.2(STAT3):c.1111_1112del rs2081913335
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.*2340dup rs886052930
NM_139276.3(STAT3):c.*2343_*2344del rs886052928
NM_139276.3(STAT3):c.*2343del rs886052929
NM_139276.3(STAT3):c.*608A>G rs2081203585
NM_139276.3(STAT3):c.*646T>C rs886052939
NM_139276.3(STAT3):c.*893dup rs754306251
NM_139276.3(STAT3):c.*894del rs373212106
NM_139276.3(STAT3):c.-139G>A rs17883843
NM_139276.3(STAT3):c.-157A>G rs1170853204
NM_139276.3(STAT3):c.1004G>A (p.Arg335Gln)
NM_139276.3(STAT3):c.1009C>G (p.Leu337Val) rs1354754513
NM_139276.3(STAT3):c.103G>T (p.Ala35Ser) rs748204289
NM_139276.3(STAT3):c.1042A>G (p.Lys348Glu)
NM_139276.3(STAT3):c.1045G>A (p.Val349Ile)
NM_139276.3(STAT3):c.1049+3A>G
NM_139276.3(STAT3):c.1052T>C (p.Leu351Ser)
NM_139276.3(STAT3):c.1064T>G (p.Phe355Cys) rs2082009323
NM_139276.3(STAT3):c.1084C>T (p.Leu362Phe) rs2082008489
NM_139276.3(STAT3):c.1101C>G (p.Cys367Trp) rs886052942
NM_139276.3(STAT3):c.1120G>T (p.Asp374Tyr) rs1449703019
NM_139276.3(STAT3):c.1121A>G (p.Asp374Gly)
NM_139276.3(STAT3):c.1127C>T (p.Ala376Val)
NM_139276.3(STAT3):c.1137A>T (p.Arg379Ser)
NM_139276.3(STAT3):c.1139+2dup rs2144777889
NM_139276.3(STAT3):c.1139+3A>T rs2144777866
NM_139276.3(STAT3):c.1140-3C>T
NM_139276.3(STAT3):c.1151_1152insG (p.Phe384fs)
NM_139276.3(STAT3):c.1169A>T (p.Asn390Ile)
NM_139276.3(STAT3):c.1178T>A (p.Val393Glu)
NM_139276.3(STAT3):c.1199A>T (p.Asn400Ile) rs1598406231
NM_139276.3(STAT3):c.1202A>G (p.Asn401Ser)
NM_139276.3(STAT3):c.1225A>T (p.Lys409Ter)
NM_139276.3(STAT3):c.1230C>G (p.His410Gln) rs138001349
NM_139276.3(STAT3):c.1233+4T>C
NM_139276.3(STAT3):c.1234A>G (p.Thr412Ala) rs1567713850
NM_139276.3(STAT3):c.1234A>T (p.Thr412Ser) rs1567713850
NM_139276.3(STAT3):c.1241G>A (p.Arg414Lys)
NM_139276.3(STAT3):c.1241G>C (p.Arg414Thr) rs2081894973
NM_139276.3(STAT3):c.1249A>G (p.Arg417Gly) rs1567713821
NM_139276.3(STAT3):c.1250G>C (p.Arg417Thr)
NM_139276.3(STAT3):c.1252T>C (p.Cys418Arg)
NM_139276.3(STAT3):c.1267C>T (p.Arg423Ter)
NM_139276.3(STAT3):c.1277G>A (p.Cys426Tyr)
NM_139276.3(STAT3):c.128+3A>G
NM_139276.3(STAT3):c.1321T>C (p.Phe441Leu)
NM_139276.3(STAT3):c.1328C>T (p.Thr443Ile) rs1555564776
NM_139276.3(STAT3):c.1348C>T (p.Leu450Phe) rs2081709628
NM_139276.3(STAT3):c.1355T>C (p.Ile452Thr)
NM_139276.3(STAT3):c.1365G>T (p.Glu455Asp)
NM_139276.3(STAT3):c.1393T>G (p.Ser465Ala) rs1598397592
NM_139276.3(STAT3):c.1406A>C (p.Gln469Pro)
NM_139276.3(STAT3):c.1424C>T (p.Ala475Val) rs2144718172
NM_139276.3(STAT3):c.1428C>T (p.Ser476=) rs369714894
NM_139276.3(STAT3):c.1437G>T (p.Trp479Cys) rs1598397528
NM_139276.3(STAT3):c.1444A>G (p.Met482Val)
NM_139276.3(STAT3):c.1464+3T>C
NM_139276.3(STAT3):c.1465-19A>G
NM_139276.3(STAT3):c.1490C>T (p.Pro497Leu)
NM_139276.3(STAT3):c.1505_1506del (p.Asp502fs) rs2144715851
NM_139276.3(STAT3):c.1513G>C (p.Ala505Pro)
NM_139276.3(STAT3):c.1516G>A (p.Glu506Lys) rs1598397096
NM_139276.3(STAT3):c.1588G>A (p.Glu530Lys) rs2144714903
NM_139276.3(STAT3):c.1592A>G (p.Lys531Arg)
NM_139276.3(STAT3):c.1600+5G>A rs573079206
NM_139276.3(STAT3):c.1600+5G>T
NM_139276.3(STAT3):c.1618T>G (p.Ser540Ala)
NM_139276.3(STAT3):c.1636T>C (p.Trp546Arg) rs1567708724
NM_139276.3(STAT3):c.1654-3C>T
NM_139276.3(STAT3):c.1658del (p.Asn553fs)
NM_139276.3(STAT3):c.1673G>A (p.Gly558Asp)
NM_139276.3(STAT3):c.1682_1684del (p.Phe561del)
NM_139276.3(STAT3):c.172C>T (p.His58Tyr)
NM_139276.3(STAT3):c.173A>G (p.His58Arg)
NM_139276.3(STAT3):c.1749-1G>C
NM_139276.3(STAT3):c.1749-3C>T rs2144694795
NM_139276.3(STAT3):c.1754T>C (p.Ile585Thr)
NM_139276.3(STAT3):c.1756A>G (p.Met586Val)
NM_139276.3(STAT3):c.1772A>T (p.Lys591Met) rs193922719
NM_139276.3(STAT3):c.1773G>T (p.Lys591Asn)
NM_139276.3(STAT3):c.1775AGCGGG[3] (p.Arg595_Ala596insGluArg)
NM_139276.3(STAT3):c.1786G>T (p.Ala596Ser)
NM_139276.3(STAT3):c.1797_1799del (p.Thr600del)
NM_139276.3(STAT3):c.1827A>T (p.Arg609Ser) rs1064122
NM_139276.3(STAT3):c.1831A>G (p.Ser611Gly) rs1598393473
NM_139276.3(STAT3):c.1840A>C (p.Ser614Arg) rs886039546
NM_139276.3(STAT3):c.1840A>G (p.Ser614Gly) rs886039546
NM_139276.3(STAT3):c.1842C>A (p.Ser614Arg)
NM_139276.3(STAT3):c.1842C>G (p.Ser614Arg)
NM_139276.3(STAT3):c.1844AAG[1] (p.Glu616del)
NM_139276.3(STAT3):c.1847A>C (p.Glu616Ala)
NM_139276.3(STAT3):c.1847A>G (p.Glu616Gly) rs2144691780
NM_139276.3(STAT3):c.1849G>A (p.Gly617Arg) rs2144691698
NM_139276.3(STAT3):c.1852G>C (p.Gly618Arg) rs2081548277
NM_139276.3(STAT3):c.1859C>T (p.Thr620Ile) rs1567708034
NM_139276.3(STAT3):c.1869G>A (p.Trp623Ter)
NM_139276.3(STAT3):c.1869G>T (p.Trp623Cys)
NM_139276.3(STAT3):c.1903C>T (p.Gln635Ter)
NM_139276.3(STAT3):c.1905G>C (p.Gln635His) rs1598392123
NM_139276.3(STAT3):c.1906T>C (p.Ser636Pro) rs1567707544
NM_139276.3(STAT3):c.191T>C (p.Ile64Thr)
NM_139276.3(STAT3):c.1925AGC[2] (p.Gln644del) rs2081521901
NM_139276.3(STAT3):c.1940A>G (p.Asn647Ser)
NM_139276.3(STAT3):c.1940A>T (p.Asn647Ile) rs770986654
NM_139276.3(STAT3):c.1943T>C (p.Met648Thr)
NM_139276.3(STAT3):c.1945T>C (p.Ser649Pro)
NM_139276.3(STAT3):c.1955A>G (p.Glu652Gly)
NM_139276.3(STAT3):c.195C>A (p.Asp65Glu) rs2144992389
NM_139276.3(STAT3):c.1963A>T (p.Met655Leu) rs2081520804
NM_139276.3(STAT3):c.1966G>C (p.Gly656Arg)
NM_139276.3(STAT3):c.1967G>A (p.Gly656Asp)
NM_139276.3(STAT3):c.1967_1981del (p.Gly656_Met660del)
NM_139276.3(STAT3):c.1969_1970insTTT (p.Gly656_Tyr657insPhe)
NM_139276.3(STAT3):c.1969_1971dup (p.Tyr657dup) rs2081520452
NM_139276.3(STAT3):c.1982A>T (p.Asp661Val) rs2081519463
NM_139276.3(STAT3):c.1984G>A (p.Ala662Thr)
NM_139276.3(STAT3):c.1987_1988delinsCT (p.Thr663Leu)
NM_139276.3(STAT3):c.1991A>T (p.Asn664Ile)
NM_139276.3(STAT3):c.1993A>T (p.Ile665Phe) rs1598391980
NM_139276.3(STAT3):c.1997T>C (p.Leu666Pro)
NM_139276.3(STAT3):c.2005C>T (p.Pro669Ser)
NM_139276.3(STAT3):c.2015A>G (p.Tyr672Cys) rs1407556958
NM_139276.3(STAT3):c.2029A>C (p.Ile677Leu)
NM_139276.3(STAT3):c.2050G>A (p.Gly684Arg)
NM_139276.3(STAT3):c.2063G>A (p.Arg688Gln)
NM_139276.3(STAT3):c.208C>T (p.Arg70Cys)
NM_139276.3(STAT3):c.209G>A (p.Arg70His) rs2144992163
NM_139276.3(STAT3):c.2113T>C (p.Tyr705His) rs2081288410
NM_139276.3(STAT3):c.2119A>G (p.Lys707Glu) rs1598381169
NM_139276.3(STAT3):c.2138T>C (p.Val713Ala) rs2144622702
NM_139276.3(STAT3):c.2144+1G>A rs2144622620
NM_139276.3(STAT3):c.2153G>A (p.Cys718Tyr)
NM_139276.3(STAT3):c.2211dup (p.Gly738fs)
NM_139276.3(STAT3):c.2216A>G (p.Asn739Ser) rs886052941
NM_139276.3(STAT3):c.2257G>A (p.Glu753Lys)
NM_139276.3(STAT3):c.2266A>T (p.Thr756Ser)
NM_139276.3(STAT3):c.2271T>G (p.Phe757Leu) rs2144606546
NM_139276.3(STAT3):c.2277G>A (p.Met759Ile) rs2144606505
NM_139276.3(STAT3):c.2297C>G (p.Ala766Gly)
NM_139276.3(STAT3):c.2309T>C (p.Met770Thr) rs2144606051
NM_139276.3(STAT3):c.249A>G (p.Leu83=) rs2082709923
NM_139276.3(STAT3):c.250C>T (p.Arg84Ter) rs2082709836
NM_139276.3(STAT3):c.281A>G (p.Tyr94Cys) rs2082663522
NM_139276.3(STAT3):c.308G>T (p.Arg103Leu) rs1417279405
NM_139276.3(STAT3):c.311T>C (p.Ile104Thr) rs2082662438
NM_139276.3(STAT3):c.340C>T (p.Arg114Cys) rs964892419
NM_139276.3(STAT3):c.350A>G (p.Gln117Arg)
NM_139276.3(STAT3):c.356C>T (p.Ala119Val) rs2144978181
NM_139276.3(STAT3):c.372+3G>A
NM_139276.3(STAT3):c.373-3C>G
NM_139276.3(STAT3):c.373-5G>A rs950657107
NM_139276.3(STAT3):c.37C>T (p.Arg13Trp)
NM_139276.3(STAT3):c.383A>C (p.Gln128Pro)
NM_139276.3(STAT3):c.385G>A (p.Ala129Thr) rs1222451818
NM_139276.3(STAT3):c.400G>A (p.Ala134Thr)
NM_139276.3(STAT3):c.406G>T (p.Val136Leu) rs1008624238
NM_139276.3(STAT3):c.420G>T (p.Lys140Asn)
NM_139276.3(STAT3):c.460A>G (p.Arg154Gly) rs2082347176
NM_139276.3(STAT3):c.468+3G>A rs375028429
NM_139276.3(STAT3):c.468+5T>C
NM_139276.3(STAT3):c.468+6G>A
NM_139276.3(STAT3):c.469-3C>T
NM_139276.3(STAT3):c.469G>A (p.Asp157Asn)
NM_139276.3(STAT3):c.475G>A (p.Glu159Lys) rs1555568535
NM_139276.3(STAT3):c.498G>C (p.Glu166Asp) rs1555568530
NM_139276.3(STAT3):c.508G>A (p.Asp170Asn) rs2144887991
NM_139276.3(STAT3):c.508G>T (p.Asp170Tyr) rs2144887991
NM_139276.3(STAT3):c.511G>A (p.Asp171Asn)
NM_139276.3(STAT3):c.545A>G (p.Gln182Arg)
NM_139276.3(STAT3):c.551-1G>C rs1598423756
NM_139276.3(STAT3):c.551-3C>A
NM_139276.3(STAT3):c.551-5C>A
NM_139276.3(STAT3):c.553A>T (p.Met185Leu)
NM_139276.3(STAT3):c.618G>A (p.Met206Ile) rs2144878076
NM_139276.3(STAT3):c.626C>T (p.Ala209Val) rs1356637796
NM_139276.3(STAT3):c.641G>A (p.Arg214Gln) rs2144877780
NM_139276.3(STAT3):c.643A>G (p.Arg215Gly)
NM_139276.3(STAT3):c.645+9A>G
NM_139276.3(STAT3):c.799A>G (p.Ile267Val)
NM_139276.3(STAT3):c.849A>T (p.Lys283Asn)
NM_139276.3(STAT3):c.856G>A (p.Glu286Lys)
NM_139276.3(STAT3):c.874T>A (p.Ser292Thr) rs2082128125
NM_139276.3(STAT3):c.875C>G (p.Ser292Cys) rs1598415625
NM_139276.3(STAT3):c.880A>G (p.Lys294Glu) rs2144832219
NM_139276.3(STAT3):c.892A>G (p.Ile298Val)
NM_139276.3(STAT3):c.892dup (p.Ile298fs)
NM_139276.3(STAT3):c.894_896del (p.Val299del)
NM_139276.3(STAT3):c.908C>T (p.Pro303Leu) rs2144831679
NM_139276.3(STAT3):c.912G>A (p.Met304Ile)
NM_139276.3(STAT3):c.917A>C (p.Glu306Ala)
NM_139276.3(STAT3):c.92G>A (p.Arg31Gln)
NM_139276.3(STAT3):c.973C>T (p.Arg325Trp) rs1567718244
NM_139276.3(STAT3):c.974G>A (p.Arg325Gln)
NM_139276.3(STAT3):c.979C>T (p.Pro327Ser)
STAT3:c.1601-72_1601-71del rs149538586

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