ClinVar Miner

List of variants in gene STK11 reported as pathogenic for Hereditary cancer-predisposing syndrome

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Gene type:
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Total variants: 101
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HGVS dbSNP gnomAD frequency
NM_000455.5(STK11):c.290+1G>A rs1131690950 0.00001
NM_000455.5(STK11):c.106del (p.Tyr36fs) rs1131690924
NM_000455.5(STK11):c.107dup (p.Tyr36Ter)
NM_000455.5(STK11):c.108C>G (p.Tyr36Ter) rs137853079
NM_000455.5(STK11):c.109C>T (p.Gln37Ter) rs121913324
NM_000455.5(STK11):c.134_145del (p.Leu45_Tyr49delinsHis) rs730881958
NM_000455.5(STK11):c.156_157del (p.Asp53fs) rs1131690917
NM_000455.5(STK11):c.156_157dup (p.Asp53fs)
NM_000455.5(STK11):c.157del (p.Asp53fs)
NM_000455.5(STK11):c.157dup (p.Asp53fs) rs1131690917
NM_000455.5(STK11):c.169dup (p.Glu57fs) rs121913319
NM_000455.5(STK11):c.179_180insAA (p.Tyr60Ter) rs876661012
NM_000455.5(STK11):c.180C>A (p.Tyr60Ter) rs778376925
NM_000455.5(STK11):c.180C>G (p.Tyr60Ter) rs778376925
NM_000455.5(STK11):c.180del (p.Ser59_Tyr60insTer) rs1555735008
NM_000455.5(STK11):c.195_198del (p.Glu65fs) rs1131690936
NM_000455.5(STK11):c.209dup (p.Thr71fs) rs1131690929
NM_000455.5(STK11):c.218_230del (p.Cys73fs) rs730881959
NM_000455.5(STK11):c.242del (p.Lys81fs) rs1599915235
NM_000455.5(STK11):c.246del (p.Lys83fs)
NM_000455.5(STK11):c.250A>T (p.Lys84Ter) rs137853076
NM_000455.5(STK11):c.256del (p.Arg86fs)
NM_000455.5(STK11):c.267del (p.Asn90fs)
NM_000455.5(STK11):c.288_289dup (p.Lys97fs) rs2080673579
NM_000455.5(STK11):c.290+1G>T rs1131690950
NM_000455.5(STK11):c.291-1G>A rs112675807
NM_000455.5(STK11):c.291-2A>G rs876658584
NM_000455.5(STK11):c.357del (p.Asn119fs) rs1555737444
NM_000455.5(STK11):c.358G>T (p.Glu120Ter) rs775595174
NM_000455.5(STK11):c.363_367dup (p.Gln123fs) rs1131690933
NM_000455.5(STK11):c.367C>T (p.Gln123Ter) rs1131690925
NM_000455.5(STK11):c.373dup (p.Met125fs) rs1131690952
NM_000455.5(STK11):c.374+1A>G rs1131690951
NM_000455.5(STK11):c.388G>T (p.Glu130Ter) rs1599925303
NM_000455.5(STK11):c.396C>A (p.Cys132Ter) rs730881969
NM_000455.5(STK11):c.402_403del (p.Cys134fs) rs587782424
NM_000455.5(STK11):c.409C>T (p.Gln137Ter) rs730881970
NM_000455.5(STK11):c.418del (p.Leu140fs) rs397518440
NM_000455.5(STK11):c.446del (p.Pro149fs) rs1131690926
NM_000455.5(STK11):c.462dup (p.Gly155fs)
NM_000455.5(STK11):c.464+1G>T rs730881971
NM_000455.5(STK11):c.475C>T (p.Gln159Ter)
NM_000455.5(STK11):c.479_489del (p.Leu160fs)
NM_000455.5(STK11):c.487_490del (p.Gly163fs)
NM_000455.5(STK11):c.488G>A (p.Gly163Asp) rs137853078
NM_000455.5(STK11):c.497_500dup (p.His168fs) rs1131690922
NM_000455.5(STK11):c.526G>A (p.Asp176Asn) rs730881979
NM_000455.5(STK11):c.526del (p.Asp176fs) rs1599926521
NM_000455.5(STK11):c.540del (p.Asn181fs) rs1131690939
NM_000455.5(STK11):c.540dup (p.Asn181fs) rs1131690939
NM_000455.5(STK11):c.541_542dup (p.Asn181fs)
NM_000455.5(STK11):c.542A>G (p.Asn181Ser) rs886037859
NM_000455.5(STK11):c.543C>G (p.Asn181Lys) rs730881973
NM_000455.5(STK11):c.574del (p.Ile192fs) rs587781856
NM_000455.5(STK11):c.580G>A (p.Asp194Asn) rs121913315
NM_000455.5(STK11):c.580G>T (p.Asp194Tyr) rs121913315
NM_000455.5(STK11):c.597+1G>A
NM_000455.5(STK11):c.598-1G>A rs1555738319
NM_000455.5(STK11):c.598-2A>G rs1131690934
NM_000455.5(STK11):c.608dup (p.Phe204fs) rs1131690946
NM_000455.5(STK11):c.630C>A (p.Cys210Ter) rs786201213
NM_000455.5(STK11):c.640C>T (p.Gln214Ter) rs1131690923
NM_000455.5(STK11):c.645del (p.Ser216fs)
NM_000455.5(STK11):c.658C>T (p.Gln220Ter) rs1131690940
NM_000455.5(STK11):c.663_675del (p.Pro222fs)
NM_000455.5(STK11):c.677del (p.Asn226fs)
NM_000455.5(STK11):c.67del (p.Asp23fs) rs1555734904
NM_000455.5(STK11):c.719C>A (p.Ser240Ter) rs730881976
NM_000455.5(STK11):c.734+1G>A rs587782018
NM_000455.5(STK11):c.734+1G>C rs587782018
NM_000455.5(STK11):c.734+1G>T rs587782018
NM_000455.5(STK11):c.735-1G>A rs1057517830
NM_000455.5(STK11):c.752del (p.Gly251fs) rs1131690948
NM_000455.5(STK11):c.790_793del (p.Phe264fs) rs121913320
NM_000455.5(STK11):c.792del (p.Phe264fs) rs1599927622
NM_000455.5(STK11):c.806del (p.Lys269fs) rs1599927645
NM_000455.5(STK11):c.816C>A (p.Tyr272Ter)
NM_000455.5(STK11):c.816C>G (p.Tyr272Ter) rs9282859
NM_000455.5(STK11):c.824del (p.Pro275fs)
NM_000455.5(STK11):c.827del (p.Gly276fs)
NM_000455.5(STK11):c.830_836dup (p.Pro280fs) rs1599927689
NM_000455.5(STK11):c.842del (p.Pro281fs) rs121913321
NM_000455.5(STK11):c.842dup (p.Leu282fs) rs121913321
NM_000455.5(STK11):c.843dup (p.Leu282fs) rs1131690949
NM_000455.5(STK11):c.862+1G>T rs1131690921
NM_000455.5(STK11):c.869T>C (p.Leu290Pro) rs1057524439
NM_000455.5(STK11):c.876C>G (p.Tyr292Ter) rs148928808
NM_000455.5(STK11):c.876del (p.Glu291_Tyr292insTer) rs1131690947
NM_000455.5(STK11):c.885del (p.Lys296fs)
NM_000455.5(STK11):c.899del (p.Ile300fs) rs786203624
NM_000455.5(STK11):c.901del (p.Arg301fs)
NM_000455.5(STK11):c.910C>T (p.Arg304Trp) rs786201090
NM_000455.5(STK11):c.910del (p.Arg304fs) rs1064793427
NM_000455.5(STK11):c.911G>C (p.Arg304Pro) rs376280361
NM_000455.5(STK11):c.913C>T (p.Gln305Ter) rs1131690945
NM_000455.5(STK11):c.920+1G>A rs1131690920
NM_000455.5(STK11):c.921-1G>C rs398123406
NM_000455.5(STK11):c.922_931delinsCC (p.Trp308fs) rs1599929258
NM_000455.5(STK11):c.923G>A (p.Trp308Ter) rs864622488
NM_000455.5(STK11):c.93dup (p.Thr32fs) rs1131690930
NM_000455.5(STK11):c.965del (p.Ile322fs)

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