ClinVar Miner

List of variants reported for Cowden syndrome 1 by Pathway Genomics

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Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_000314.8(PTEN):c.388C>T (p.Arg130Ter) rs121909224 0.00001
NM_000314.8(PTEN):c.265C>T (p.Pro89Ser) rs587783059
NM_000314.8(PTEN):c.389del (p.Arg130fs) rs121913292
NM_000314.8(PTEN):c.697C>T (p.Arg233Ter) rs121909219
NM_000314.8(PTEN):c.955_958del (p.Leu318_Thr319insTer) rs146650273
NM_000314.8(PTEN):c.968dup (p.Asn323fs) rs121913291

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