ClinVar Miner

List of variants in gene PTEN reported as pathogenic by Color Diagnostics, LLC DBA Color Health

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 20
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000314.8(PTEN):c.388C>T (p.Arg130Ter) rs121909224 0.00001
NM_000314.8(PTEN):c.517C>T (p.Arg173Cys) rs121913293 0.00001
NM_000314.8(PTEN):c.1003C>T (p.Arg335Ter) rs121909231
NM_000314.8(PTEN):c.1027-2A>G rs1085308041
NM_000314.8(PTEN):c.159_163del (p.Arg55fs) rs2132187850
NM_000314.8(PTEN):c.194_195insT (p.Lys66fs)
NM_000314.8(PTEN):c.306del (p.Lys102fs) rs587782641
NM_000314.8(PTEN):c.406T>C (p.Cys136Arg) rs786201044
NM_000314.8(PTEN):c.469del (p.Glu157fs) rs1554898210
NM_000314.8(PTEN):c.473_478delinsCAAAGGC (p.Val158fs) rs1859983725
NM_000314.8(PTEN):c.49C>T (p.Gln17Ter) rs786204910
NM_000314.8(PTEN):c.520dup (p.Tyr174fs) rs1085308052
NM_000314.8(PTEN):c.635-1G>C rs876661024
NM_000314.8(PTEN):c.697C>T (p.Arg233Ter) rs121909219
NM_000314.8(PTEN):c.733C>T (p.Gln245Ter) rs786202918
NM_000314.8(PTEN):c.741_742dup (p.Pro248fs) rs1554825222
NM_000314.8(PTEN):c.741dup (p.Pro248fs) rs587782341
NM_000314.8(PTEN):c.750_751insC (p.Gly251fs) rs1860548195
NM_000314.8(PTEN):c.940G>T (p.Glu314Ter) rs1455551840
NM_000314.8(PTEN):c.968dup (p.Asn323fs) rs121913291

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.