ClinVar Miner

List of variants reported as pathogenic for Cowden syndrome 1 by Counsyl

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Total variants: 3

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HGVS	dbSNP
NM_000314.7(PTEN):c.388C>T (p.Arg130Ter)	rs121909224
NM_000314.7(PTEN):c.633C>A (p.Cys211Ter)	rs121909232
NM_000314.8(PTEN):c.1003C>T (p.Arg335Ter)	rs121909231

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