ClinVar Miner

List of variants in gene STK4 reported as uncertain significance for combined immunodeficiency due to STK4 deficiency

Included ClinVar conditions (1):
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Gene type:
ClinVar version:
Total variants: 88
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HGVS dbSNP gnomAD frequency
NM_006282.5(STK4):c.1057A>G (p.Thr353Ala) rs140089638 0.00119
NM_006282.5(STK4):c.47A>G (p.Lys16Arg) rs142594802 0.00052
NM_006282.5(STK4):c.929G>A (p.Arg310Gln) rs35447878 0.00019
NM_006282.5(STK4):c.1172C>T (p.Ala391Val) rs371924549 0.00014
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.1142T>C (p.Met381Thr) rs201224293 0.00006
NM_006282.5(STK4):c.721C>T (p.Pro241Ser) rs371236375 0.00006
NM_006282.5(STK4):c.818C>T (p.Thr273Ile) rs374505931 0.00005
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.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.387A>G (p.Ile129Met) rs371332575 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.796C>A (p.Pro266Thr) rs143845252 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.1388G>A (p.Arg463Gln) rs746946767 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.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.739C>T (p.Pro247Ser) rs368707737 0.00001
NM_006282.5(STK4):c.772G>A (p.Val258Met) rs372125666 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.1031C>T (p.Ala344Val) rs776978911
NM_006282.5(STK4):c.1073A>G (p.Asp358Gly) rs2145697791
NM_006282.5(STK4):c.107T>C (p.Leu36Pro) rs780774353
NM_006282.5(STK4):c.1103T>G (p.Met368Arg) rs2067836523
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.1162A>G (p.Met388Val)
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.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+1G>A rs2145383232
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.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.1455_1456inv (p.Gln485_Asn486delinsHisTyr)
NM_006282.5(STK4):c.155C>T (p.Thr52Ile) rs2067377726
NM_006282.5(STK4):c.158G>A (p.Gly53Asp)
NM_006282.5(STK4):c.246C>T (p.Ser82=)
NM_006282.5(STK4):c.260A>G (p.Lys87Arg)
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.340A>G (p.Ile114Val) rs2145653234
NM_006282.5(STK4):c.356A>C (p.Lys119Thr)
NM_006282.5(STK4):c.36-3C>T
NM_006282.5(STK4):c.370G>T (p.Asp124Tyr) rs759942089
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.518A>T (p.Gln173Leu) rs2067546545
NM_006282.5(STK4):c.524C>T (p.Thr175Ile)
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.662A>G (p.Lys221Arg) rs2145683700
NM_006282.5(STK4):c.703A>G (p.Met235Val) rs2067746549
NM_006282.5(STK4):c.845_846delinsTT (p.Arg282Ile) rs2067814857
NM_006282.5(STK4):c.893T>C (p.Met298Thr) rs2145695444
NM_006282.5(STK4):c.929G>C (p.Arg310Pro)
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.972A>C (p.Glu324Asp) rs2145697297
NM_006282.5(STK4):c.986C>T (p.Thr329Met)
NM_006282.5(STK4):c.995G>T (p.Arg332Leu) rs146085540

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