ClinVar Miner

List of variants in gene STK11 reported as pathogenic by GeneDx

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Total variants: 27
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HGVS dbSNP gnomAD frequency
NM_000455.5(STK11):c.134_145del (p.Leu45_Tyr49delinsHis) rs730881958
NM_000455.5(STK11):c.179dup (p.Tyr60Ter) rs876661012
NM_000455.5(STK11):c.180del (p.Ser59_Tyr60insTer) rs1555735008
NM_000455.5(STK11):c.200T>C (p.Leu67Pro) rs137853077
NM_000455.5(STK11):c.218_230del (p.Cys73fs) rs730881959
NM_000455.5(STK11):c.250A>T (p.Lys84Ter) rs137853076
NM_000455.5(STK11):c.326del (p.Asn109fs) rs886041996
NM_000455.5(STK11):c.358G>T (p.Glu120Ter) rs775595174
NM_000455.5(STK11):c.393C>G (p.Tyr131Ter) rs760399253
NM_000455.5(STK11):c.402_403del (p.Cys134fs) rs587782424
NM_000455.5(STK11):c.540del (p.Asn181fs) rs1131690939
NM_000455.5(STK11):c.580G>A (p.Asp194Asn) rs121913315
NM_000455.5(STK11):c.597+1G>T rs886039554
NM_000455.5(STK11):c.658C>T (p.Gln220Ter) rs1131690940
NM_000455.5(STK11):c.717G>A (p.Trp239Ter) rs137853082
NM_000455.5(STK11):c.735-1G>A rs1057517830
NM_000455.5(STK11):c.759C>G (p.Tyr253Ter)
NM_000455.5(STK11):c.766G>T (p.Glu256Ter) rs1057520606
NM_000455.5(STK11):c.790_793del (p.Phe264fs) rs121913320
NM_000455.5(STK11):c.841_842del (p.Pro281fs) rs121913321
NM_000455.5(STK11):c.842dup (p.Leu282fs) rs121913321
NM_000455.5(STK11):c.904C>T (p.Gln302Ter) rs1085307466
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.921-1G>C rs398123406

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