ClinVar Miner

List of variants in gene PTEN reported as likely pathogenic for Cowden syndrome

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Total variants: 14
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HGVS dbSNP gnomAD frequency
NM_000314.8(PTEN):c.1023del (p.Phe341fs) rs1564568689
NM_000314.8(PTEN):c.344A>G (p.Asp115Gly) rs869312775
NM_000314.8(PTEN):c.37A>G (p.Lys13Glu) rs1554890348
NM_000314.8(PTEN):c.408T>G (p.Cys136Trp) rs869312776
NM_000314.8(PTEN):c.423del (p.Arg142fs) rs1859979785
NM_000314.8(PTEN):c.430A>T (p.Lys144Ter) rs1057520622
NM_000314.8(PTEN):c.475A>G (p.Arg159Gly) rs786202688
NM_000314.8(PTEN):c.486C>G (p.Asp162Glu) rs869312777
NM_000314.8(PTEN):c.492+1G>A rs1554898242
NM_000314.8(PTEN):c.755A>T (p.Asp252Val) rs121909239
NM_000314.8(PTEN):c.827A>T (p.Asn276Ile) rs1860618095
NM_000314.8(PTEN):c.830C>T (p.Thr277Ile) rs398123329
NM_000314.8(PTEN):c.888T>A (p.Cys296Ter) rs1589665853
NM_000314.8(PTEN):c.967_968dup (p.Asn323fs) rs121913291

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