ClinVar Miner

List of variants reported as likely pathogenic for Cowden syndrome 1 by University of Washington Department of Laboratory Medicine, University of Washington

Included ClinVar conditions (14):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_000314.8(PTEN):c.344A>G (p.Asp115Gly) rs869312775
NM_000314.8(PTEN):c.408T>G (p.Cys136Trp) rs869312776
NM_000314.8(PTEN):c.486C>G (p.Asp162Glu) rs869312777

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