ClinVar Miner

List of variants studied for Cowden syndrome 1 by University of Washington Department of Laboratory Medicine,University of Washington

Included ClinVar conditions (9):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 7
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HGVS dbSNP
NM_000314.7(PTEN):c.-734G>A rs886047384
NM_000314.7(PTEN):c.118G>T (p.Glu40Ter) rs869312778
NM_000314.7(PTEN):c.344A>G (p.Asp115Gly) rs869312775
NM_000314.7(PTEN):c.408T>G (p.Cys136Trp) rs869312776
NM_000314.7(PTEN):c.486C>G (p.Asp162Glu) rs869312777
NM_000314.7(PTEN):c.765_766AG[1] (p.Glu256fs) rs869312780
NM_001304718.2(PTEN):c.-327del rs869312779

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