ClinVar Miner

List of variants in gene STK4 studied for combined immunodeficiency due to STK4 deficiency

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 211
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HGVS dbSNP gnomAD frequency
NM_006282.5(STK4):c.36-46C>G rs6130717 0.51315
NM_006282.5(STK4):c.934G>A (p.Val312Met) rs17420378 0.25305
NM_006282.5(STK4):c.1247C>T (p.Pro416Leu) rs33963346 0.00700
NM_006282.5(STK4):c.36-12C>G rs112812069 0.00591
NM_006282.5(STK4):c.246-12C>T rs189229500 0.00464
NM_006282.5(STK4):c.525+14T>C rs189360346 0.00224
NM_006282.5(STK4):c.1344C>T (p.Leu448=) rs142232604 0.00206
NM_006282.5(STK4):c.1064T>C (p.Ile355Thr) rs35944046 0.00137
NM_006282.5(STK4):c.1057A>G (p.Thr353Ala) rs140089638 0.00119
NM_006282.5(STK4):c.116+20A>G rs113435838 0.00116
NM_006282.5(STK4):c.526-9C>G rs74663793 0.00105
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.929G>A (p.Arg310Gln) rs35447878 0.00019
NM_006282.5(STK4):c.1135G>A (p.Gly379Arg) rs781603743 0.00017
NM_006282.5(STK4):c.995G>A (p.Arg332Gln) rs146085540 0.00016
NM_006282.5(STK4):c.1172C>T (p.Ala391Val) rs371924549 0.00014
NM_006282.5(STK4):c.960+14G>A rs112554250 0.00011
NM_006282.5(STK4):c.713C>G (p.Thr238Arg) rs750661803 0.00009
NM_006282.5(STK4):c.359C>T (p.Thr120Met) rs368513990 0.00008
NM_006282.5(STK4):c.1447C>T (p.Arg483Trp) rs201951179 0.00007
NM_006282.5(STK4):c.1071C>T (p.His357=) rs375700226 0.00006
NM_006282.5(STK4):c.1142T>C (p.Met381Thr) rs201224293 0.00006
NM_006282.5(STK4):c.721C>T (p.Pro241Ser) rs371236375 0.00006
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.1296C>T (p.Asp432=) rs752377172 0.00004
NM_006282.5(STK4):c.129C>T (p.Ser43=) rs150111569 0.00004
NM_006282.5(STK4):c.350G>A (p.Arg117Gln) rs202040819 0.00004
NM_006282.5(STK4):c.394T>G (p.Ser132Ala) rs751537507 0.00004
NM_006282.5(STK4):c.694-4C>G rs922185959 0.00004
NM_006282.5(STK4):c.78A>G (p.Pro26=) rs373205117 0.00004
NM_006282.5(STK4):c.804G>C (p.Gln268His) rs778290237 0.00004
NM_006282.5(STK4):c.812C>T (p.Thr271Ile) rs1423957175 0.00004
NM_006282.5(STK4):c.1004G>A (p.Gly335Asp) rs771955007 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.420T>C (p.Leu140=) rs769701004 0.00003
NM_006282.5(STK4):c.758A>G (p.Asn253Ser) rs149432644 0.00003
NM_006282.5(STK4):c.823C>G (p.Leu275Val) rs373362307 0.00003
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.473A>G (p.Asn158Ser) rs774250826 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.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.1148-18A>G rs191817187 0.00001
NM_006282.5(STK4):c.1173G>A (p.Ala391=) rs937735290 0.00001
NM_006282.5(STK4):c.1299C>T (p.Tyr433=) rs755925460 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.1425T>C (p.Asp475=) rs765006728 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.288A>G (p.Thr96=) rs1236915263 0.00001
NM_006282.5(STK4):c.291C>A (p.Asp97Glu) rs768328182 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.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.442C>T (p.Arg148Ter) rs749441226 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.525+16A>C rs961192026 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.828G>A (p.Leu276=) rs1302749832 0.00001
NM_006282.5(STK4):c.837A>G (p.Pro279=) rs1289152715 0.00001
NM_006282.5(STK4):c.872G>A (p.Arg291Gln) rs749201774 0.00001
NM_006282.5(STK4):c.884A>G (p.Asn295Ser) rs1277742961 0.00001
NC_000020.10:g.(?_43703639)_(43703817_?)dup
NM_006282.5(STK4):c.1005T>A (p.Gly335=)
NM_006282.5(STK4):c.1026A>C (p.Arg342=)
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.1092A>G (p.Gln364=)
NM_006282.5(STK4):c.1101C>T (p.Thr367=) rs112013913
NM_006282.5(STK4):c.1102A>G (p.Met368Val)
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)
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
NM_006282.5(STK4):c.1148-4del
NM_006282.5(STK4):c.1148-7T>G
NM_006282.5(STK4):c.116+10A>G
NM_006282.5(STK4):c.1162A>G (p.Met388Val)
NM_006282.5(STK4):c.117-7T>C
NM_006282.5(STK4):c.1170T>C (p.Pro390=)
NM_006282.5(STK4):c.1200A>G (p.Glu400=)
NM_006282.5(STK4):c.1203A>G (p.Gln401=)
NM_006282.5(STK4):c.1209A>G (p.Glu403=)
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=)
NM_006282.5(STK4):c.1272T>C (p.Asp424=)
NM_006282.5(STK4):c.1286A>G (p.Gln429Arg)
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.1300G>A (p.Glu434Lys)
NM_006282.5(STK4):c.1305+10G>A rs770696834
NM_006282.5(STK4):c.1305+1G>A rs2145383232
NM_006282.5(STK4):c.1305+9T>A
NM_006282.5(STK4):c.1306-18del
NM_006282.5(STK4):c.1306-6T>C
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=)
NM_006282.5(STK4):c.1374G>A (p.Glu458=)
NM_006282.5(STK4):c.1377T>A (p.Ile459=)
NM_006282.5(STK4):c.1380A>G (p.Glu460=)
NM_006282.5(STK4):c.1387C>T (p.Arg463Trp)
NM_006282.5(STK4):c.1409G>A (p.Arg470Gln) rs200190272
NM_006282.5(STK4):c.1427C>T (p.Ala476Val)
NM_006282.5(STK4):c.1435G>T (p.Ala479Ser)
NM_006282.5(STK4):c.1443G>A (p.Lys481=)
NM_006282.5(STK4):c.1455_1456inv (p.Gln485_Asn486delinsHisTyr)
NM_006282.5(STK4):c.153G>A (p.Glu51=)
NM_006282.5(STK4):c.155C>T (p.Thr52Ile) rs2067377726
NM_006282.5(STK4):c.156C>T (p.Thr52=)
NM_006282.5(STK4):c.158G>A (p.Gly53Asp)
NM_006282.5(STK4):c.159C>A (p.Gly53=)
NM_006282.5(STK4):c.245+17T>G
NM_006282.5(STK4):c.246-15TC[5]
NM_006282.5(STK4):c.246-15TC[7] rs200105994
NM_006282.5(STK4):c.246-19A>G
NM_006282.5(STK4):c.246-4C>G
NM_006282.5(STK4):c.246C>T (p.Ser82=)
NM_006282.5(STK4):c.260A>G (p.Lys87Arg)
NM_006282.5(STK4):c.264T>C (p.Tyr88=)
NM_006282.5(STK4):c.276T>C (p.Tyr92=) rs2145652961
NM_006282.5(STK4):c.29C>T (p.Pro10Leu)
NM_006282.5(STK4):c.301G>A (p.Val101Ile)
NM_006282.5(STK4):c.302T>C (p.Val101Ala)
NM_006282.5(STK4):c.327T>G (p.Ser109=)
NM_006282.5(STK4):c.340A>G (p.Ile114Val) rs2145653234
NM_006282.5(STK4):c.35+8G>A
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)
NM_006282.5(STK4):c.36-18A>G
NM_006282.5(STK4):c.36-1G>A
NM_006282.5(STK4):c.36-3C>T
NM_006282.5(STK4):c.36-4A>G
NM_006282.5(STK4):c.360+16A>G
NM_006282.5(STK4):c.361-14T>A
NM_006282.5(STK4):c.361-16C>G
NM_006282.5(STK4):c.361-5T>C
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)
NM_006282.5(STK4):c.427A>T (p.Met143Leu) rs2067544523
NM_006282.5(STK4):c.484C>A (p.His162Asn)
NM_006282.5(STK4):c.507G>A (p.Gly169=)
NM_006282.5(STK4):c.518A>T (p.Gln173Leu) rs2067546545
NM_006282.5(STK4):c.519A>G (p.Gln173=)
NM_006282.5(STK4):c.524C>T (p.Thr175Ile)
NM_006282.5(STK4):c.525+16_525+19del
NM_006282.5(STK4):c.526-13C>G
NM_006282.5(STK4):c.526-7A>C rs528301360
NM_006282.5(STK4):c.531C>T (p.Thr177=)
NM_006282.5(STK4):c.54T>C (p.Asp18=)
NM_006282.5(STK4):c.563C>T (p.Pro188Leu)
NM_006282.5(STK4):c.592G>C (p.Glu198Gln)
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>T (p.Pro222=)
NM_006282.5(STK4):c.693+14C>G
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.801G>A (p.Glu267=)
NM_006282.5(STK4):c.831+18A>G
NM_006282.5(STK4):c.831+19T>G
NM_006282.5(STK4):c.845_846delinsTT (p.Arg282Ile) rs2067814857
NM_006282.5(STK4):c.871C>T (p.Arg291Ter)
NM_006282.5(STK4):c.893T>C (p.Met298Thr) rs2145695444
NM_006282.5(STK4):c.922C>T (p.Gln308Ter) rs2145695502
NM_006282.5(STK4):c.929G>C (p.Arg310Pro)
NM_006282.5(STK4):c.945C>T (p.Asp315=)
NM_006282.5(STK4):c.946G>A (p.Asp316Asn)
NM_006282.5(STK4):c.946G>T (p.Asp316Tyr)
NM_006282.5(STK4):c.955A>G (p.Asn319Asp)
NM_006282.5(STK4):c.960+5G>A rs2067818030
NM_006282.5(STK4):c.961-17A>C rs539801788
NM_006282.5(STK4):c.961-18G>C
NM_006282.5(STK4):c.961-18G>T
NM_006282.5(STK4):c.961-2A>G
NM_006282.5(STK4):c.961-5T>C rs2067831661
NM_006282.5(STK4):c.972A>C (p.Glu324Asp) rs2145697297
NM_006282.5(STK4):c.986C>T (p.Thr329Met)
NM_006282.5(STK4):c.987G>T (p.Thr329=)
NM_006282.5(STK4):c.994C>T (p.Arg332Ter)
NM_006282.5(STK4):c.995G>T (p.Arg332Leu) rs146085540

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