ClinVar Miner

List of variants in gene STK11 reported as likely pathogenic by Database of Curated Mutations (DoCM)

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Total variants: 27
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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.200T>C (p.Leu67Pro) rs137853077
NM_000455.4(STK11):c.256C>G (p.Arg86Gly) rs1057520039
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.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.530T>A (p.Ile177Asn) rs1057520041
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.644G>A (p.Gly215Asp) rs1057520038
NM_000455.4(STK11):c.647C>T (p.Ser216Phe) rs1057520017
NM_000455.4(STK11):c.717G>C (p.Trp239Cys) rs137853082
NM_000455.4(STK11):c.842C>T (p.Pro281Leu) rs121913322
NM_000455.4(STK11):c.910C>T (p.Arg304Trp) rs786201090
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

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