ClinVar Miner

List of variants reported as pathogenic for PTEN hamartoma tumor syndrome by University of Washington Department of Laboratory Medicine, University of Washington

Included ClinVar conditions (20):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
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NM_000314.7(PTEN):c.118G>T (p.Glu40Ter) rs869312778
NM_000314.7(PTEN):c.765_766AG[1] (p.Glu256fs) rs869312780
NM_001304718.2(PTEN):c.-327del rs869312779

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