ClinVar Miner

List of variants reported as uncertain significance for PTEN hamartoma tumor syndrome by Cancer Genomic Medicine Translational Research Lab,Cleveland Clinic Genomic Medicine Institute

Included ClinVar conditions (20):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 10
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HGVS dbSNP
NM_000314.7(PTEN):c.210-39A>G rs370918174
NM_000314.7(PTEN):c.210-7_210-3del rs587780544
NM_000314.7(PTEN):c.210-8del rs1554897849
NM_000314.7(PTEN):c.254-30dup rs77494260
NM_000314.7(PTEN):c.254-51A>T rs1554898040
NM_000314.7(PTEN):c.254-72A>T rs1554898037
NM_000314.7(PTEN):c.493-31A>G rs550267891
NM_000314.7(PTEN):c.493-52A>G rs1043121029
NM_000314.7(PTEN):c.80-3C>G rs1554893746
NM_000314.7(PTEN):c.802-51_802-14del rs557364463

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