ClinVar Miner

List of variants studied for Cowden syndrome 1 by Pathway Genomics

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Total variants: 6

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HGVS	dbSNP
NM_000314.7(PTEN):c.265C>T (p.Pro89Ser)	rs587783059
NM_000314.7(PTEN):c.388C>T (p.Arg130Ter)	rs121909224
NM_000314.7(PTEN):c.697C>T (p.Arg233Ter)	rs121909219
NM_000314.7(PTEN):c.968dup (p.Asn323fs)	rs121913291
NM_000314.8(PTEN):c.951_954ACTT[1] (p.Leu318_Thr319insTer)	rs146650273
NM_001304718.2(PTEN):c.-362del	rs121913292

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