ClinVar Miner

List of variants in gene PTEN reported as likely pathogenic for Cowden syndrome 1

Included ClinVar conditions (9):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 15
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HGVS dbSNP
NM_000314.7(PTEN):c.1023del (p.Phe341fs) rs1564568689
NM_000314.7(PTEN):c.202T>C (p.Tyr68His) rs398123317
NM_000314.7(PTEN):c.300dup (p.Ile101fs) rs1554898083
NM_000314.7(PTEN):c.304_308dup (p.Phe104fs) rs1554898085
NM_000314.7(PTEN):c.344A>G (p.Asp115Gly) rs869312775
NM_000314.7(PTEN):c.404T>A (p.Ile135Lys) rs370795352
NM_000314.7(PTEN):c.408T>G (p.Cys136Trp) rs869312776
NM_000314.7(PTEN):c.464A>C (p.Tyr155Ser) rs1060500126
NM_000314.7(PTEN):c.486C>G (p.Asp162Glu) rs869312777
NM_000314.7(PTEN):c.737C>T (p.Pro246Leu) rs587782350
NM_000314.7(PTEN):c.860C>G (p.Ser287Ter) rs863224909
NM_000314.7(PTEN):c.865_866insCT (p.Lys289fs) rs1554825530
NM_000314.7(PTEN):c.947T>C (p.Leu316Pro) rs1064793345
NM_000314.7(PTEN):c.968dup (p.Asn323fs) rs121913291
NM_000314.7(PTEN):c.975_988delinsCGCTT (p.Asp326_Lys330delinsAlaTer) rs1114167640

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