ClinVar Miner

List of variants reported as likely pathogenic for Cowden syndrome

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Total variants: 11
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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.430A>T (p.Lys144Ter) rs1057520622
NM_000314.7(PTEN):c.475A>G (p.Arg159Gly) rs786202688
NM_000314.7(PTEN):c.486C>G (p.Asp162Glu) rs869312777
NM_000314.8(PTEN):c.1023del (p.Phe341fs) rs1564568689
NM_000314.8(PTEN):c.423del (p.Arg142fs)
NM_000314.8(PTEN):c.888T>A (p.Cys296Ter)
NM_000314.8(PTEN):c.967_968dup (p.Asn323fs)
NM_003000.3(SDHB):c.650G>A (p.Arg217His) rs747518441
NM_006218.4(PIK3CA):c.311C>T (p.Pro104Leu) rs863225060

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