ClinVar Miner

List of variants in gene PAK3 reported as benign for not provided

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 37
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_002578.5(PAK3):c.830+248T>C rs6567947 0.23133
NM_002578.5(PAK3):c.1546-84C>A rs16986440 0.20853
NM_002578.5(PAK3):c.880-164dup rs35848728 0.20670
NM_002578.5(PAK3):c.431-284T>A rs5985590 0.20535
NM_002578.5(PAK3):c.431-26A>G rs16986385 0.16664
NM_002578.5(PAK3):c.468+254A>G rs145417135 0.16642
NM_002578.5(PAK3):c.830+239T>G rs6567946 0.15557
NM_002578.5(PAK3):c.1545+169C>T rs16986439 0.09596
NM_002578.5(PAK3):c.469-158G>T rs2208018 0.08936
NM_002578.5(PAK3):c.1545+95G>A rs141766450 0.08408
NM_002578.5(PAK3):c.175+254A>T rs7879757 0.07873
NM_002578.5(PAK3):c.1545+41C>G rs10521535 0.06361
NM_002578.5(PAK3):c.469-259G>A rs7879095 0.05515
NM_002578.5(PAK3):c.431-59G>A rs12116372 0.05502
NM_002578.5(PAK3):c.468+142T>C rs144388761 0.02954
NM_002578.5(PAK3):c.1185C>T (p.Leu395=) rs150174049 0.00992
NM_002578.5(PAK3):c.276+2659T>C rs142890115 0.00491
NM_002578.5(PAK3):c.531G>A (p.Glu177=) rs56270341 0.00239
NM_002578.5(PAK3):c.483A>G (p.Ala161=) rs146801179 0.00061
NM_002578.5(PAK3):c.1518G>A (p.Arg506=) rs377693111 0.00034
NM_002578.5(PAK3):c.601-10G>T rs185674324 0.00023
NM_002578.5(PAK3):c.1579A>G (p.Ser527Gly) rs200474454 0.00021
NM_002578.5(PAK3):c.879+12C>T rs368671477 0.00020
NM_002578.5(PAK3):c.10G>A (p.Gly4Ser) rs140296303 0.00016
NM_002578.5(PAK3):c.918G>A (p.Lys306=) rs151056810 0.00013
NM_002578.5(PAK3):c.993-20C>A rs779061662 0.00012
NM_002578.5(PAK3):c.671C>A (p.Ser224Tyr) rs759005736 0.00007
NM_002578.5(PAK3):c.849T>C (p.Tyr283=) rs374626503 0.00006
NM_002578.5(PAK3):c.9C>T (p.Asp3=) rs745645606 0.00005
NM_002578.5(PAK3):c.1230C>T (p.Ala410=)
NM_002578.5(PAK3):c.328T>C (p.Leu110=)
NM_002578.5(PAK3):c.36G>A (p.Pro12=)
NM_002578.5(PAK3):c.426A>C (p.Ser142=)
NM_002578.5(PAK3):c.496T>C (p.Leu166=)
NM_002578.5(PAK3):c.525_527del (p.Asp175del) rs770793505
NM_002578.5(PAK3):c.879+13G>A
NM_002578.5(PAK3):c.992+15T>G

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.