ClinVar Miner

List of variants studied for PTEN hamartoma tumor syndrome by Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine

Included ClinVar conditions (20):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 7
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NM_000314.7(PTEN):c.1003C>T (p.Arg335Ter) rs121909231
NM_000314.7(PTEN):c.388C>T (p.Arg130Ter) rs121909224
NM_000314.7(PTEN):c.48T>G (p.Tyr16Ter) rs587782187
NM_000314.7(PTEN):c.518G>A (p.Arg173His) rs121913294
NM_000314.7(PTEN):c.737C>T (p.Pro246Leu) rs587782350
NM_000314.8(PTEN):c.723del (p.Phe241fs)
NM_001304718.2(PTEN):c.-70T>G rs786201867

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