ClinVar Miner

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

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 24
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000455.5(STK11):c.842C>T (p.Pro281Leu) rs121913322 0.00006
NM_000455.5(STK11):c.368A>G (p.Gln123Arg) rs764449808 0.00004
NM_000455.5(STK11):c.971C>T (p.Pro324Leu) rs367807476 0.00001
NM_000455.5(STK11):c.109C>T (p.Gln37Ter) rs121913324
NM_000455.5(STK11):c.200T>C (p.Leu67Pro) rs137853077
NM_000455.5(STK11):c.256C>G (p.Arg86Gly) rs1057520039
NM_000455.5(STK11):c.323A>G (p.Lys108Arg) rs1057520040
NM_000455.5(STK11):c.487G>T (p.Gly163Cys) rs730881972
NM_000455.5(STK11):c.508C>T (p.Gln170Ter) rs121913323
NM_000455.5(STK11):c.526G>A (p.Asp176Asn) rs730881979
NM_000455.5(STK11):c.530T>A (p.Ile177Asn) rs1057520041
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.581A>T (p.Asp194Val) rs121913316
NM_000455.5(STK11):c.582C>A (p.Asp194Glu) rs786202134
NM_000455.5(STK11):c.582C>G (p.Asp194Glu) rs786202134
NM_000455.5(STK11):c.587G>T (p.Gly196Val) rs1057519858
NM_000455.5(STK11):c.595G>A (p.Glu199Lys) rs121913317
NM_000455.5(STK11):c.595G>T (p.Glu199Ter) rs121913317
NM_000455.5(STK11):c.644G>A (p.Gly215Asp) rs1057520038
NM_000455.5(STK11):c.647C>T (p.Ser216Phe) rs1057520017
NM_000455.5(STK11):c.717G>C (p.Trp239Cys) rs137853082
NM_000455.5(STK11):c.910C>T (p.Arg304Trp) rs786201090
NM_000455.5(STK11):c.924G>C (p.Trp308Cys) rs1057520042

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.