ClinVar Miner

List of variants reported as likely pathogenic for Cowden syndrome by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

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Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_000162.5(GCK):c.475A>G (p.Ile159Val) rs1319364468
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.492+1G>A rs1554898242
NM_000314.8(PTEN):c.755A>T (p.Asp252Val) rs121909239
NM_000314.8(PTEN):c.888T>A (p.Cys296Ter) rs1589665853
NM_000314.8(PTEN):c.967_968dup (p.Asn323fs) rs121913291

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