ClinVar Miner

List of variants in gene STK11 reported as pathogenic by Invitae

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Gene type:
ClinVar version:
Total variants: 169
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HGVS dbSNP gnomAD frequency
NM_000455.5(STK11):c.290+1G>A rs1131690950 0.00001
NC_000019.10:g.(?_1206914)_(1226647_?)del
NC_000019.10:g.(?_1218407)_(1222016_?)del
NC_000019.10:g.(?_1218407)_(1226647_?)del
NC_000019.10:g.(?_1218407)_(1226657_?)del
NC_000019.10:g.(?_1218417)_(1219413_?)del
NC_000019.10:g.(?_1221939)_(1222016_?)del
NC_000019.10:g.(?_1221949)_(1222006_?)del
NC_000019.10:g.1220380_1220381insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNGGCTGGCCGGGCAGAGTGGCTCCTCACTTCCCAGACGGGGTGGTTGCCAGACGGAGGGGCTCCTCACTTCTCAGACGGGGCCCGCAGGTACTTCT
NC_000019.9:g.(?_1206903)_(1207212_?)del
NC_000019.9:g.(?_1206907)_(1226652_?)del
NC_000019.9:g.(?_1206913)_(1207212_?)del
NC_000019.9:g.(?_1206913)_(1219422_?)del
NC_000019.9:g.(?_1206913)_(1223181_?)del
NC_000019.9:g.(?_1218406)_(1218509_?)del
NC_000019.9:g.(?_1218406)_(1219422_?)del
NC_000019.9:g.(?_1219313)_(1220726_?)del
NC_000019.9:g.(?_1219317)_(1221345_?)del
NC_000019.9:g.(?_1220366)_(1220510_?)del
NC_000019.9:g.(?_1221107)_(1227749_?)del
NC_000019.9:g.(?_1221202)_(1221349_?)del
NM_000455.4(STK11):c.-1115-?_290+?del
NM_000455.4(STK11):c.821delinsAC (p.Ile274fs) rs1555738683
NM_000455.4(STK11):c.918_919delinsTCC (p.Ser307fs) rs1555738899
NM_000455.5(STK11):c.105_106del (p.Tyr36fs) rs1568689994
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.109dup (p.Gln37fs) rs2145404947
NM_000455.5(STK11):c.129del (p.Lys44fs) rs1060499961
NM_000455.5(STK11):c.132dup (p.Leu45fs) rs2145405064
NM_000455.5(STK11):c.141dup (p.Lys48fs) rs2145405118
NM_000455.5(STK11):c.145dup (p.Tyr49fs) rs2145405146
NM_000455.5(STK11):c.157dup (p.Asp53fs) rs1131690917
NM_000455.5(STK11):c.158dup (p.Asp53fs)
NM_000455.5(STK11):c.169G>T (p.Glu57Ter) rs137854584
NM_000455.5(STK11):c.169dup (p.Glu57fs) rs121913319
NM_000455.5(STK11):c.179_180dup (p.Gly61fs) rs1555735001
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.197_225del (p.Val66fs) rs1599915131
NM_000455.5(STK11):c.199del (p.Leu67fs) rs1555735014
NM_000455.5(STK11):c.19C>T (p.Gln7Ter) rs2080669968
NM_000455.5(STK11):c.250A>T (p.Lys84Ter) rs137853076
NM_000455.5(STK11):c.256C>T (p.Arg86Ter) rs1057520039
NM_000455.5(STK11):c.261_262dup (p.Ile88fs) rs2080673271
NM_000455.5(STK11):c.288_289dup (p.Lys97fs) rs2080673579
NM_000455.5(STK11):c.289A>T (p.Lys97Ter) rs2080673604
NM_000455.5(STK11):c.290+1G>C rs1131690950
NM_000455.5(STK11):c.290+1G>T rs1131690950
NM_000455.5(STK11):c.290+2T>A
NM_000455.5(STK11):c.291-1G>C rs112675807
NM_000455.5(STK11):c.291-1G>T rs112675807
NM_000455.5(STK11):c.291-2A>C rs876658584
NM_000455.5(STK11):c.291-2A>G rs876658584
NM_000455.5(STK11):c.29dup (p.Met11fs) rs2145404496
NM_000455.5(STK11):c.314T>G (p.Leu105Ter) rs2080758521
NM_000455.5(STK11):c.326del (p.Asn109fs) rs886041996
NM_000455.5(STK11):c.328del (p.Val110fs) rs2145420680
NM_000455.5(STK11):c.332_333insG (p.Ile111fs) rs2145420699
NM_000455.5(STK11):c.334C>T (p.Gln112Ter) rs771049807
NM_000455.5(STK11):c.347_350dup (p.Leu117fs) rs2145420751
NM_000455.5(STK11):c.350del (p.Leu117fs) rs2145420765
NM_000455.5(STK11):c.354C>G (p.Tyr118Ter) rs1555737439
NM_000455.5(STK11):c.354_362del (p.Tyr118_Glu121delinsTer) rs2145420792
NM_000455.5(STK11):c.367C>T (p.Gln123Ter) rs1131690925
NM_000455.5(STK11):c.374+1A>G rs1131690951
NM_000455.5(STK11):c.375del (p.Met125fs)
NM_000455.5(STK11):c.385del (p.Met129fs)
NM_000455.5(STK11):c.394del (p.Cys132fs) rs864622707
NM_000455.5(STK11):c.402_403del (p.Cys134fs) rs587782424
NM_000455.5(STK11):c.407T>C (p.Met136Thr) rs1060499958
NM_000455.5(STK11):c.418_420del (p.Leu140del) rs1599925362
NM_000455.5(STK11):c.418del (p.Leu140fs) rs397518440
NM_000455.5(STK11):c.419T>C (p.Leu140Pro) rs1555737790
NM_000455.5(STK11):c.429_441del (p.Pro144fs) rs2145422371
NM_000455.5(STK11):c.432_454dup (p.Gln152fs)
NM_000455.5(STK11):c.454C>T (p.Gln152Ter) rs2145422504
NM_000455.5(STK11):c.464+1G>A rs730881971
NM_000455.5(STK11):c.464+1G>T rs730881971
NM_000455.5(STK11):c.464+1dup rs2145422531
NM_000455.5(STK11):c.468C>G (p.Tyr156Ter) rs786201349
NM_000455.5(STK11):c.471_472del (p.Phe157fs)
NM_000455.5(STK11):c.475C>T (p.Gln159Ter)
NM_000455.5(STK11):c.487_490dup (p.Leu164fs) rs2145424194
NM_000455.5(STK11):c.494del (p.Glu165fs)
NM_000455.5(STK11):c.498C>G (p.Tyr166Ter) rs1555738205
NM_000455.5(STK11):c.508C>T (p.Gln170Ter) rs121913323
NM_000455.5(STK11):c.525_532dup (p.Lys178fs) rs1555738219
NM_000455.5(STK11):c.526G>A (p.Asp176Asn) rs730881979
NM_000455.5(STK11):c.540del (p.Asn181fs) rs1131690939
NM_000455.5(STK11):c.540dup (p.Asn181fs) rs1131690939
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.580G>A (p.Asp194Asn) rs121913315
NM_000455.5(STK11):c.582_596del (p.Asp194_Ala198del) rs2145424620
NM_000455.5(STK11):c.583del (p.Leu195fs) rs2145424635
NM_000455.5(STK11):c.597+1G>T rs886039554
NM_000455.5(STK11):c.597+2T>A rs2145424716
NM_000455.5(STK11):c.598-1G>A rs1555738319
NM_000455.5(STK11):c.598-2A>C rs1131690934
NM_000455.5(STK11):c.598-2A>G rs1131690934
NM_000455.5(STK11):c.602_606del (p.Leu201fs)
NM_000455.5(STK11):c.608_627del (p.Pro203fs) rs2145425021
NM_000455.5(STK11):c.614_618del (p.Ala205fs) rs2080776017
NM_000455.5(STK11):c.62dup (p.Met22fs)
NM_000455.5(STK11):c.630C>A (p.Cys210Ter) rs786201213
NM_000455.5(STK11):c.640_653del (p.Gln214fs) rs2145425162
NM_000455.5(STK11):c.646dup (p.Ser216fs)
NM_000455.5(STK11):c.650del (p.Pro217fs) rs397518442
NM_000455.5(STK11):c.658C>T (p.Gln220Ter) rs1131690940
NM_000455.5(STK11):c.669_670del (p.Glu223fs) rs2145425286
NM_000455.5(STK11):c.671_920+333del
NM_000455.5(STK11):c.694_695del (p.Ser232fs) rs2080776848
NM_000455.5(STK11):c.715_719dup (p.Ala241fs)
NM_000455.5(STK11):c.717G>A (p.Trp239Ter) rs137853082
NM_000455.5(STK11):c.717G>C (p.Trp239Cys) rs137853082
NM_000455.5(STK11):c.719C>A (p.Ser240Ter) rs730881976
NM_000455.5(STK11):c.724G>A (p.Gly242Arg) rs878853992
NM_000455.5(STK11):c.727del (p.Val243fs) rs1555738475
NM_000455.5(STK11):c.734+1G>A rs587782018
NM_000455.5(STK11):c.734+1G>T rs587782018
NM_000455.5(STK11):c.734+5G>A
NM_000455.5(STK11):c.735-10C>A
NM_000455.5(STK11):c.735-1G>A rs1057517830
NM_000455.5(STK11):c.738C>G (p.Tyr246Ter) rs137853083
NM_000455.5(STK11):c.748del (p.Thr250fs)
NM_000455.5(STK11):c.755_758dup (p.Pro254fs) rs1599927564
NM_000455.5(STK11):c.762dup (p.Phe255fs) rs1599927573
NM_000455.5(STK11):c.772del (p.Asp258fs) rs1599927589
NM_000455.5(STK11):c.788T>A (p.Leu263Ter) rs1226608647
NM_000455.5(STK11):c.790_793del (p.Phe264fs) rs121913320
NM_000455.5(STK11):c.792_793insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNGCTCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCACAGTGCTGTGATTACAGGCGTGAGCCACCGCGCCCGGCCTACAAGTTGTTT (p.Glu265delinsPhePhePhePhePhePheXaaXaaXaaXaaAlaLeuLeuThrSerTer) rs2145426910
NM_000455.5(STK11):c.795_796dup (p.Asn266fs) rs1555738656
NM_000455.5(STK11):c.811_812del (p.Ser271fs)
NM_000455.5(STK11):c.815dup (p.Tyr272Ter)
NM_000455.5(STK11):c.816del (p.Ser271_Tyr272insTer) rs1555738667
NM_000455.5(STK11):c.834_858del (p.Asp277_Cys278insTer)
NM_000455.5(STK11):c.841_842dup (p.Leu282fs) rs121913321
NM_000455.5(STK11):c.842del (p.Pro281fs) rs121913321
NM_000455.5(STK11):c.842dup (p.Leu282fs) rs121913321
NM_000455.5(STK11):c.84_97dup (p.Glu33fs) rs2080670808
NM_000455.5(STK11):c.862+1G>T rs1131690921
NM_000455.5(STK11):c.876C>G (p.Tyr292Ter) rs148928808
NM_000455.5(STK11):c.884_888del (p.Ala295fs) rs1555738863
NM_000455.5(STK11):c.886A>T (p.Lys296Ter)
NM_000455.5(STK11):c.889_890del (p.Arg297fs) rs2145428733
NM_000455.5(STK11):c.890G>A (p.Arg297Lys) rs1568710381
NM_000455.5(STK11):c.891G>T (p.Arg297Ser) rs730881984
NM_000455.5(STK11):c.895_901dup (p.Arg301fs) rs1555738874
NM_000455.5(STK11):c.897_905del (p.300IRQ[1])
NM_000455.5(STK11):c.898ATCCGGCAG[1] (p.300IRQ[1]) rs2145428787
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.915_920+5delinsCATCCGGCAGATCCGGCAGATGCCGGCAGATCCGGCAGATCCGGCAGATC
NM_000455.5(STK11):c.916C>T (p.His306Tyr) rs2145428869
NM_000455.5(STK11):c.920+1del rs1599928360
NM_000455.5(STK11):c.921-1G>A
NM_000455.5(STK11):c.923G>A (p.Trp308Ter) rs864622488
NM_000455.5(STK11):c.924G>T (p.Trp308Cys)
NM_000455.5(STK11):c.933del (p.Lys312fs) rs2080795769
NM_000455.5(STK11):c.935_936del (p.Lys312fs) rs397518443
NM_000455.5(STK11):c.940_941del (p.Pro314fs) rs2145430693
NM_000455.5(STK11):c.954_956delinsCCAGGTGGGA (p.Pro319fs) rs2080796043
NM_000455.5(STK11):c.961_962delinsT (p.Pro321fs)
NM_000455.5(STK11):c.964del (p.Ile322fs) rs1599929335
NM_000455.5(STK11):c.965dup (p.Pro324fs) rs1599929339

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