ClinVar Miner

List of variants studied for Combined immunodeficiency due to STK4 deficiency

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 229
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_006282.5(STK4):c.36-46C>G rs6130717 0.50360
NM_006282.5(STK4):c.934G>A (p.Val312Met) rs17420378 0.25016
NM_006282.5(STK4):c.1247C>T (p.Pro416Leu) rs33963346 0.00700
NM_006282.5(STK4):c.36-12C>G rs112812069 0.00544
NM_006282.5(STK4):c.246-12C>T rs189229500 0.00464
NM_006282.5(STK4):c.525+14T>C rs189360346 0.00208
NM_006282.5(STK4):c.1064T>C (p.Ile355Thr) rs35944046 0.00203
NM_006282.5(STK4):c.1344C>T (p.Leu448=) rs142232604 0.00191
NM_006282.5(STK4):c.1057A>G (p.Thr353Ala) rs140089638 0.00114
NM_006282.5(STK4):c.526-9C>G rs74663793 0.00105
NM_006282.5(STK4):c.116+20A>G rs113435838 0.00102
NM_006282.5(STK4):c.47A>G (p.Lys16Arg) rs142594802 0.00052
NM_006282.5(STK4):c.526-7A>G rs528301360 0.00029
NM_006282.5(STK4):c.995G>A (p.Arg332Gln) rs146085540 0.00016
NM_006282.5(STK4):c.1172C>T (p.Ala391Val) rs371924549 0.00011
NM_006282.5(STK4):c.960+14G>A rs112554250 0.00011
NM_006282.5(STK4):c.929G>A (p.Arg310Gln) rs35447878 0.00009
NM_006282.5(STK4):c.1071C>T (p.His357=) rs375700226 0.00008
NM_006282.5(STK4):c.1447C>T (p.Arg483Trp) rs201951179 0.00007
NM_006282.5(STK4):c.359C>T (p.Thr120Met) rs368513990 0.00007
NM_006282.5(STK4):c.713C>G (p.Thr238Arg) rs750661803 0.00007
NM_006282.5(STK4):c.721C>T (p.Pro241Ser) rs371236375 0.00006
NM_006282.5(STK4):c.1142T>C (p.Met381Thr) rs201224293 0.00005
NM_006282.5(STK4):c.246-19A>G rs370647333 0.00005
NM_006282.5(STK4):c.600A>T (p.Gly200=) rs759185627 0.00005
NM_006282.5(STK4):c.818C>T (p.Thr273Ile) rs374505931 0.00005
NM_006282.5(STK4):c.1086A>G (p.Pro362=) rs201046502 0.00004
NM_006282.5(STK4):c.350G>A (p.Arg117Gln) rs202040819 0.00004
NM_006282.5(STK4):c.694-4C>G rs922185959 0.00004
NM_006282.5(STK4):c.804G>C (p.Gln268His) rs778290237 0.00004
NM_006282.5(STK4):c.831+18A>G rs367794687 0.00004
NM_006282.5(STK4):c.1004G>A (p.Gly335Asp) rs771955007 0.00003
NM_006282.5(STK4):c.1102A>G (p.Met368Val) rs750401960 0.00003
NM_006282.5(STK4):c.1374G>A (p.Glu458=) rs745499210 0.00003
NM_006282.5(STK4):c.301G>A (p.Val101Ile) rs375543946 0.00003
NM_006282.5(STK4):c.35+8G>T rs756662308 0.00003
NM_006282.5(STK4):c.387A>G (p.Ile129Met) rs371332575 0.00003
NM_006282.5(STK4):c.394T>G (p.Ser132Ala) rs751537507 0.00003
NM_006282.5(STK4):c.420T>C (p.Leu140=) rs769701004 0.00003
NM_006282.5(STK4):c.758A>G (p.Asn253Ser) rs149432644 0.00003
NM_006282.5(STK4):c.78A>G (p.Pro26=) rs373205117 0.00003
NM_006282.5(STK4):c.812C>T (p.Thr271Ile) rs1423957175 0.00003
NM_006282.5(STK4):c.823C>G (p.Leu275Val) rs373362307 0.00003
NM_006282.5(STK4):c.1026A>C (p.Arg342=) rs545569053 0.00002
NM_006282.5(STK4):c.1092A>G (p.Gln364=) rs796785683 0.00002
NM_006282.5(STK4):c.1135G>A (p.Gly379Arg) rs781603743 0.00002
NM_006282.5(STK4):c.1148-18A>G rs191817187 0.00002
NM_006282.5(STK4):c.1296C>T (p.Asp432=) rs752377172 0.00002
NM_006282.5(STK4):c.1383G>C (p.Glu461Asp) rs771492682 0.00002
NM_006282.5(STK4):c.1430T>C (p.Ile477Thr) rs201001614 0.00002
NM_006282.5(STK4):c.1435G>T (p.Ala479Ser) rs368897909 0.00002
NM_006282.5(STK4):c.442C>T (p.Arg148Ter) rs749441226 0.00002
NM_006282.5(STK4):c.473A>G (p.Asn158Ser) rs774250826 0.00002
NM_006282.5(STK4):c.484C>A (p.His162Asn) rs55850759 0.00002
NM_006282.5(STK4):c.549A>G (p.Thr183=) rs776820693 0.00002
NM_006282.5(STK4):c.693+11G>A rs758518676 0.00002
NM_006282.5(STK4):c.796C>A (p.Pro266Thr) rs143845252 0.00002
NM_006282.5(STK4):c.872G>A (p.Arg291Gln) rs749201774 0.00002
NM_006282.5(STK4):c.960+13C>T rs778589622 0.00002
NM_006282.5(STK4):c.1045G>A (p.Asp349Asn) rs930004106 0.00001
NM_006282.5(STK4):c.1062G>A (p.Met354Ile) rs376301299 0.00001
NM_006282.5(STK4):c.1080G>A (p.Thr360=) rs753488329 0.00001
NM_006282.5(STK4):c.1083G>A (p.Leu361=) rs1287930416 0.00001
NM_006282.5(STK4):c.1148-7T>G rs2515677060 0.00001
NM_006282.5(STK4):c.1173G>A (p.Ala391=) rs937735290 0.00001
NM_006282.5(STK4):c.1200A>G (p.Glu400=) rs775761766 0.00001
NM_006282.5(STK4):c.1209A>G (p.Glu403=) rs2068320102 0.00001
NM_006282.5(STK4):c.1284A>G (p.Pro428=) rs1036990057 0.00001
NM_006282.5(STK4):c.1286A>G (p.Gln429Arg) rs1468417114 0.00001
NM_006282.5(STK4):c.1299C>T (p.Tyr433=) rs755925460 0.00001
NM_006282.5(STK4):c.129C>T (p.Ser43=) rs150111569 0.00001
NM_006282.5(STK4):c.1300G>A (p.Glu434Lys) rs777926811 0.00001
NM_006282.5(STK4):c.1371G>A (p.Gln457=) rs1223782743 0.00001
NM_006282.5(STK4):c.1388G>A (p.Arg463Gln) rs746946767 0.00001
NM_006282.5(STK4):c.1409G>A (p.Arg470Gln) rs200190272 0.00001
NM_006282.5(STK4):c.1425T>C (p.Asp475=) rs765006728 0.00001
NM_006282.5(STK4):c.1443G>A (p.Lys481=) rs751609402 0.00001
NM_006282.5(STK4):c.1449G>A (p.Arg483=) rs1056783930 0.00001
NM_006282.5(STK4):c.246-10C>T rs755737288 0.00001
NM_006282.5(STK4):c.246-4C>G rs1301000046 0.00001
NM_006282.5(STK4):c.246C>T (p.Ser82=) rs368631495 0.00001
NM_006282.5(STK4):c.260A>G (p.Lys87Arg) rs778374900 0.00001
NM_006282.5(STK4):c.264T>C (p.Tyr88=) rs1321262030 0.00001
NM_006282.5(STK4):c.288A>G (p.Thr96=) rs1236915263 0.00001
NM_006282.5(STK4):c.291C>A (p.Asp97Glu) rs768328182 0.00001
NM_006282.5(STK4):c.29C>T (p.Pro10Leu) rs1203443460 0.00001
NM_006282.5(STK4):c.300C>T (p.Ile100=) rs138052948 0.00001
NM_006282.5(STK4):c.349C>T (p.Arg117Ter) rs387907316 0.00001
NM_006282.5(STK4):c.36-3C>T rs766185825 0.00001
NM_006282.5(STK4):c.36-4A>G rs1456739306 0.00001
NM_006282.5(STK4):c.360+16A>G rs756858255 0.00001
NM_006282.5(STK4):c.366A>G (p.Thr122=) rs774962859 0.00001
NM_006282.5(STK4):c.370G>A (p.Asp124Asn) rs759942089 0.00001
NM_006282.5(STK4):c.397A>G (p.Thr133Ala) rs781137671 0.00001
NM_006282.5(STK4):c.45A>G (p.Lys15=) rs759760219 0.00001
NM_006282.5(STK4):c.465T>A (p.Ile155=) rs959351024 0.00001
NM_006282.5(STK4):c.507G>A (p.Gly169=) rs761091299 0.00001
NM_006282.5(STK4):c.525+16A>C rs961192026 0.00001
NM_006282.5(STK4):c.526-13C>G rs1304544372 0.00001
NM_006282.5(STK4):c.586A>G (p.Ile196Val) rs1312616952 0.00001
NM_006282.5(STK4):c.619A>G (p.Ile207Val) rs377733474 0.00001
NM_006282.5(STK4):c.663G>T (p.Lys221Asn) rs1406011532 0.00001
NM_006282.5(STK4):c.722C>T (p.Pro241Leu) rs1279829809 0.00001
NM_006282.5(STK4):c.733C>T (p.Arg245Ter) rs748660310 0.00001
NM_006282.5(STK4):c.739C>T (p.Pro247Ser) rs368707737 0.00001
NM_006282.5(STK4):c.772G>A (p.Val258Met) rs372125666 0.00001
NM_006282.5(STK4):c.801G>A (p.Glu267=) rs755054432 0.00001
NM_006282.5(STK4):c.828G>A (p.Leu276=) rs1302749832 0.00001
NM_006282.5(STK4):c.837A>G (p.Pro279=) rs1289152715 0.00001
NM_006282.5(STK4):c.884A>G (p.Asn295Ser) rs1277742961 0.00001
NM_006282.5(STK4):c.945C>T (p.Asp315=) rs201769432 0.00001
NM_006282.5(STK4):c.955A>G (p.Asn319Asp) rs749256812 0.00001
NM_006282.5(STK4):c.961-18G>T rs753289508 0.00001
NM_006282.5(STK4):c.961-5T>C rs2067831661 0.00001
NM_006282.5(STK4):c.986C>T (p.Thr329Met) rs2515640854 0.00001
NM_006282.5(STK4):c.994C>T (p.Arg332Ter) rs2067832645 0.00001
NC_000020.10:g.(?_42223339)_(44638757_?)del
NC_000020.10:g.(?_43703639)_(43703817_?)dup
NM_006282.5(STK4):c.1005T>A (p.Gly335=) rs2515640944
NM_006282.5(STK4):c.1031C>T (p.Ala344Val) rs776978911
NM_006282.5(STK4):c.1073A>G (p.Asp358Gly) rs2145697791
NM_006282.5(STK4):c.1077C>T (p.Asp359=) rs561228188
NM_006282.5(STK4):c.107T>C (p.Leu36Pro) rs780774353
NM_006282.5(STK4):c.1101C>T (p.Thr367=) rs112013913
NM_006282.5(STK4):c.1103T>G (p.Met368Arg) rs2067836523
NM_006282.5(STK4):c.1103del (p.Met368fs) rs1601240010
NM_006282.5(STK4):c.1104G>A (p.Met368Ile) rs2515641445
NM_006282.5(STK4):c.1114G>C (p.Ala372Pro) rs1568709093
NM_006282.5(STK4):c.1124AGGAAG[3] (p.Glu377_Glu378dup) rs773351957
NM_006282.5(STK4):c.1147+18T>C rs1250138935
NM_006282.5(STK4):c.1148-4del rs771127580
NM_006282.5(STK4):c.1148-8G>A
NM_006282.5(STK4):c.116+10A>G rs950205348
NM_006282.5(STK4):c.1162A>G (p.Met388Val) rs2515677140
NM_006282.5(STK4):c.117-7T>C rs2515598865
NM_006282.5(STK4):c.1170T>C (p.Pro390=) rs2068319036
NM_006282.5(STK4):c.1203A>G (p.Gln401=) rs769387276
NM_006282.5(STK4):c.120C>G (p.Ser40=) rs750961060
NM_006282.5(STK4):c.1223T>C (p.Ile408Thr) rs980823829
NM_006282.5(STK4):c.1250G>A (p.Gly417Asp) rs1220711062
NM_006282.5(STK4):c.1269A>G (p.Ser423=) rs1687050082
NM_006282.5(STK4):c.1272T>C (p.Asp424=) rs2515677538
NM_006282.5(STK4):c.1289A>T (p.Asp430Val) rs1600495712
NM_006282.5(STK4):c.1294G>C (p.Asp432His) rs2145383165
NM_006282.5(STK4):c.1305+10G>A rs770696834
NM_006282.5(STK4):c.1305+18del
NM_006282.5(STK4):c.1305+1G>A rs2145383232
NM_006282.5(STK4):c.1305+9T>A rs2515677711
NM_006282.5(STK4):c.1306-18del rs1177990541
NM_006282.5(STK4):c.1306-6T>C rs1182060730
NM_006282.5(STK4):c.1306C>G (p.Leu436Val)
NM_006282.5(STK4):c.1352T>C (p.Leu451Pro) rs1980403811
NM_006282.5(STK4):c.1367A>T (p.Glu456Val) rs2145491507
NM_006282.5(STK4):c.1368G>A (p.Glu456=) rs1980404746
NM_006282.5(STK4):c.1377T>A (p.Ile459=) rs1980406806
NM_006282.5(STK4):c.1380A>G (p.Glu460=) rs2515399139
NM_006282.5(STK4):c.1387C>T (p.Arg463Trp) rs774995364
NM_006282.5(STK4):c.1427C>T (p.Ala476Val) rs2515399391
NM_006282.5(STK4):c.1455_1456inv (p.Gln485_Asn486delinsHisTyr)
NM_006282.5(STK4):c.153G>A (p.Glu51=) rs2067377665
NM_006282.5(STK4):c.155C>T (p.Thr52Ile) rs2067377726
NM_006282.5(STK4):c.156C>T (p.Thr52=) rs777154289
NM_006282.5(STK4):c.157G>A (p.Gly53Ser)
NM_006282.5(STK4):c.158G>A (p.Gly53Asp) rs2515599064
NM_006282.5(STK4):c.159C>A (p.Gly53=) rs1464796057
NM_006282.5(STK4):c.245+17T>G rs2515599323
NM_006282.5(STK4):c.246-15TC[4]
NM_006282.5(STK4):c.246-15TC[5] rs200105994
NM_006282.5(STK4):c.246-15TC[7] rs200105994
NM_006282.5(STK4):c.246-4C>T
NM_006282.5(STK4):c.276T>C (p.Tyr92=) rs2145652961
NM_006282.5(STK4):c.302T>C (p.Val101Ala) rs763376298
NM_006282.5(STK4):c.327T>G (p.Ser109=) rs2515604905
NM_006282.5(STK4):c.340A>G (p.Ile114Val) rs2145653234
NM_006282.5(STK4):c.343C>T (p.Arg115Ter)
NM_006282.5(STK4):c.35+8G>A rs756662308
NM_006282.5(STK4):c.35+8_35+9delinsTT rs2145618421
NM_006282.5(STK4):c.354T>C (p.Asn118=) rs2145653297
NM_006282.5(STK4):c.356A>C (p.Lys119Thr) rs2515605003
NM_006282.5(STK4):c.36-18A>G rs769341775
NM_006282.5(STK4):c.36-19T>C
NM_006282.5(STK4):c.36-1G>A rs2515586999
NM_006282.5(STK4):c.361-14T>A rs763153330
NM_006282.5(STK4):c.361-16C>G rs2515613609
NM_006282.5(STK4):c.361-5T>C rs2067542743
NM_006282.5(STK4):c.370G>T (p.Asp124Tyr) rs759942089
NM_006282.5(STK4):c.373G>T (p.Glu125Ter) rs2145665305
NM_006282.5(STK4):c.38A>C (p.Gln13Pro) rs1365819917
NM_006282.5(STK4):c.424T>C (p.Phe142Leu) rs2515613983
NM_006282.5(STK4):c.427A>T (p.Met143Leu) rs2067544523
NM_006282.5(STK4):c.518A>T (p.Gln173Leu) rs2067546545
NM_006282.5(STK4):c.519A>G (p.Gln173=) rs762463520
NM_006282.5(STK4):c.524C>T (p.Thr175Ile) rs2515614408
NM_006282.5(STK4):c.525+16_525+19del rs2515614472
NM_006282.5(STK4):c.526-7A>C rs528301360
NM_006282.5(STK4):c.531C>T (p.Thr177=) rs2515627796
NM_006282.5(STK4):c.54T>C (p.Asp18=) rs1351838222
NM_006282.5(STK4):c.563C>T (p.Pro188Leu) rs2515627920
NM_006282.5(STK4):c.592G>C (p.Glu198Gln) rs765887990
NM_006282.5(STK4):c.599G>A (p.Gly200Glu) rs2145683538
NM_006282.5(STK4):c.642C>T (p.Ala214=) rs2145683663
NM_006282.5(STK4):c.662A>G (p.Lys221Arg) rs2145683700
NM_006282.5(STK4):c.666C>G (p.Pro222=)
NM_006282.5(STK4):c.666C>T (p.Pro222=) rs139310380
NM_006282.5(STK4):c.693+14C>G rs2067707396
NM_006282.5(STK4):c.693G>A (p.Arg231=)
NM_006282.5(STK4):c.703A>G (p.Met235Val) rs2067746549
NM_006282.5(STK4):c.749G>A (p.Trp250Ter) rs1601230245
NM_006282.5(STK4):c.775A>T (p.Lys259Ter)
NM_006282.5(STK4):c.831+19T>G rs2515632886
NM_006282.5(STK4):c.832-5T>A
NM_006282.5(STK4):c.845_846delinsTT (p.Arg282Ile) rs2067814857
NM_006282.5(STK4):c.871C>T (p.Arg291Ter) rs148138374
NM_006282.5(STK4):c.893T>C (p.Met298Thr) rs2145695444
NM_006282.5(STK4):c.910C>T (p.Arg304Cys)
NM_006282.5(STK4):c.922C>T (p.Gln308Ter) rs2145695502
NM_006282.5(STK4):c.929G>C (p.Arg310Pro) rs35447878
NM_006282.5(STK4):c.92dup (p.Asp31fs)
NM_006282.5(STK4):c.946G>A (p.Asp316Asn) rs374601797
NM_006282.5(STK4):c.946G>T (p.Asp316Tyr) rs374601797
NM_006282.5(STK4):c.960+5G>A rs2067818030
NM_006282.5(STK4):c.961-12A>G
NM_006282.5(STK4):c.961-17A>C rs539801788
NM_006282.5(STK4):c.961-18G>C rs753289508
NM_006282.5(STK4):c.961-2A>G rs2515640727
NM_006282.5(STK4):c.964G>T (p.Glu322Ter)
NM_006282.5(STK4):c.972A>C (p.Glu324Asp) rs2145697297
NM_006282.5(STK4):c.987G>T (p.Thr329=) rs2067832258
NM_006282.5(STK4):c.995G>T (p.Arg332Leu) rs146085540

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.