ClinVar Miner

List of variants in gene PTEN studied for Bannayan-Riley-Ruvalcaba syndrome

Included ClinVar conditions (9):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
Total variants: 9
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000314.8(PTEN):c.892C>G (p.Gln298Glu) rs371387815 0.00009
NM_000314.8(PTEN):c.152_160dup (p.Asp51_Val53dup) rs1564814602
NM_000314.8(PTEN):c.302T>C (p.Ile101Thr) rs1339631701
NM_000314.8(PTEN):c.377C>T (p.Ala126Val) rs1114167656
NM_000314.8(PTEN):c.475delinsCTT (p.Arg159fs) rs2493719154
NM_000314.8(PTEN):c.548dup (p.Asn184fs) rs1554900593
NM_000314.8(PTEN):c.634+3_634+7delinsTCTCATCCTTGAATTT rs2493754990
NM_000314.8(PTEN):c.752G>A (p.Gly251Asp) rs1554825226
NM_000314.8(PTEN):c.860C>G (p.Ser287Ter) rs863224909

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. The submitted information has not been verified. If you have questions about the information contained on this website, please see a health care professional.