ClinVar Miner

List of variants in gene STK4 reported as likely benign 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: 100
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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.526-7A>G rs528301360 0.00029
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.960+14G>A rs112554250 0.00011
NM_006282.5(STK4):c.1071C>T (p.His357=) rs375700226 0.00006
NM_006282.5(STK4):c.600A>T (p.Gly200=) rs759185627 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.78A>G (p.Pro26=) rs373205117 0.00004
NM_006282.5(STK4):c.35+8G>T rs756662308 0.00003
NM_006282.5(STK4):c.420T>C (p.Leu140=) rs769701004 0.00003
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.960+13C>T rs778589622 0.00002
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.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.366A>G (p.Thr122=) rs774962859 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.828G>A (p.Leu276=) rs1302749832 0.00001
NM_006282.5(STK4):c.837A>G (p.Pro279=) rs1289152715 0.00001
NM_006282.5(STK4):c.1005T>A (p.Gly335=)
NM_006282.5(STK4):c.1026A>C (p.Arg342=)
NM_006282.5(STK4):c.1077C>T (p.Asp359=) rs561228188
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.1147+18T>C
NM_006282.5(STK4):c.1148-7T>G
NM_006282.5(STK4):c.116+10A>G
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.1269A>G (p.Ser423=)
NM_006282.5(STK4):c.1272T>C (p.Asp424=)
NM_006282.5(STK4):c.1305+10G>A rs770696834
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.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.1443G>A (p.Lys481=)
NM_006282.5(STK4):c.153G>A (p.Glu51=)
NM_006282.5(STK4):c.156C>T (p.Thr52=)
NM_006282.5(STK4):c.159C>A (p.Gly53=)
NM_006282.5(STK4):c.245+17T>G
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.264T>C (p.Tyr88=)
NM_006282.5(STK4):c.276T>C (p.Tyr92=) rs2145652961
NM_006282.5(STK4):c.327T>G (p.Ser109=)
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.36-18A>G
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.484C>A (p.His162Asn)
NM_006282.5(STK4):c.507G>A (p.Gly169=)
NM_006282.5(STK4):c.519A>G (p.Gln173=)
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.642C>T (p.Ala214=) rs2145683663
NM_006282.5(STK4):c.666C>T (p.Pro222=)
NM_006282.5(STK4):c.693+14C>G
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.945C>T (p.Asp315=)
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.961-5T>C rs2067831661
NM_006282.5(STK4):c.987G>T (p.Thr329=)

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