ClinVar Miner

List of variants in gene STK11 reported as likely pathogenic

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Total variants: 61
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HGVS dbSNP
NM_000455.4(STK11):c.1060T>C (p.Phe354Leu) rs1057520018
NM_000455.4(STK11):c.1088C>T (p.Thr363Ile) rs587778695
NM_000455.4(STK11):c.109C>T (p.Gln37Ter) rs121913324
NM_000455.4(STK11):c.151_162del12 (p.Met51_Leu54del) rs1131690916
NM_000455.4(STK11):c.155_157delGGG (p.Gly52del) rs1131690917
NM_000455.4(STK11):c.159_170delCCTGCTGGGGGA (p.Asp53_Gly56del) rs1131690953
NM_000455.4(STK11):c.199del (p.Leu67Trpfs) rs1555735014
NM_000455.4(STK11):c.200T>C (p.Leu67Pro) rs137853077
NM_000455.4(STK11):c.256C>G (p.Arg86Gly) rs1057520039
NM_000455.4(STK11):c.290+1_290+7del rs1555735080
NM_000455.4(STK11):c.290+2_290+4delTAA
NM_000455.4(STK11):c.323A>G (p.Lys108Arg) rs1057520040
NM_000455.4(STK11):c.368A>G (p.Gln123Arg) rs764449808
NM_000455.4(STK11):c.374+2T>C rs1555737480
NM_000455.4(STK11):c.407T>C (p.Met136Thr) rs1060499958
NM_000455.4(STK11):c.465-2A>C rs1131690931
NM_000455.4(STK11):c.481A>T (p.Ile161Phe) rs1131690938
NM_000455.4(STK11):c.487G>C (p.Gly163Arg) rs730881972
NM_000455.4(STK11):c.487G>T (p.Gly163Cys) rs730881972
NM_000455.4(STK11):c.508C>T (p.Gln170Ter) rs121913323
NM_000455.4(STK11):c.526G>A (p.Asp176Asn) rs730881979
NM_000455.4(STK11):c.527A>G (p.Asp176Gly) rs1064794805
NM_000455.4(STK11):c.530T>A (p.Ile177Asn) rs1057520041
NM_000455.4(STK11):c.541A>G (p.Asn181Asp) rs886037926
NM_000455.4(STK11):c.542A>G (p.Asn181Ser) rs886037859
NM_000455.4(STK11):c.580G>A (p.Asp194Asn) rs121913315
NM_000455.4(STK11):c.580G>T (p.Asp194Tyr) rs121913315
NM_000455.4(STK11):c.581A>T (p.Asp194Val) rs121913316
NM_000455.4(STK11):c.582C>A (p.Asp194Glu) rs786202134
NM_000455.4(STK11):c.582C>G (p.Asp194Glu) rs786202134
NM_000455.4(STK11):c.587G>T (p.Gly196Val) rs1057519858
NM_000455.4(STK11):c.595G>A (p.Glu199Lys) rs121913317
NM_000455.4(STK11):c.595G>T (p.Glu199Ter) rs121913317
NM_000455.4(STK11):c.597+1G>T rs886039554
NM_000455.4(STK11):c.598-1G>A rs1555738319
NM_000455.4(STK11):c.630C>A (p.Cys210Ter) rs786201213
NM_000455.4(STK11):c.644G>A (p.Gly215Asp) rs1057520038
NM_000455.4(STK11):c.647C>T (p.Ser216Phe) rs1057520017
NM_000455.4(STK11):c.709G>C (p.Asp237His) rs878853247
NM_000455.4(STK11):c.709G>T (p.Asp237Tyr) rs878853247
NM_000455.4(STK11):c.711C>G (p.Asp237Glu) rs1057520379
NM_000455.4(STK11):c.717G>C (p.Trp239Cys) rs137853082
NM_000455.4(STK11):c.719C>G (p.Ser240Trp) rs730881976
NM_000455.4(STK11):c.725G>A (p.Gly242Glu)
NM_000455.4(STK11):c.734+2T>C rs1131690941
NM_000455.4(STK11):c.781_788dup (p.Leu263Phefs)
NM_000455.4(STK11):c.842C>T (p.Pro281Leu) rs121913322
NM_000455.4(STK11):c.851delA (p.Asp284Alafs) rs1555738723
NM_000455.4(STK11):c.856_858delCTG (p.Leu286del) rs1057518830
NM_000455.4(STK11):c.863-1G>A rs863224448
NM_000455.4(STK11):c.863-2A>G rs1131690944
NM_000455.4(STK11):c.869T>C (p.Leu290Pro) rs1057524439
NM_000455.4(STK11):c.890_907del18 (p.Arg297_Gln302del) rs1131690935
NM_000455.4(STK11):c.908T>G (p.Ile303Ser) rs727504171
NM_000455.4(STK11):c.910C>T (p.Arg304Trp) rs786201090
NM_000455.4(STK11):c.920+1G>A rs1131690920
NM_000455.4(STK11):c.923G>T (p.Trp308Leu) rs864622488
NM_000455.4(STK11):c.924G>C (p.Trp308Cys) rs1057520042
NM_000455.4(STK11):c.971C>T (p.Pro324Leu) rs367807476
NM_000455.4(STK11):c.996G>A (p.Trp332Ter) rs121913325
NM_000455.4:c.982_983del

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