ClinVar Miner

List of variants studied for Cowden syndrome 1 by Pathway Genomics

Included ClinVar conditions (8):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 6
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HGVS dbSNP
NM_000314.4(PTEN):c.968dupA (p.Asn323Lysfs) rs121913291
NM_000314.6(PTEN):c.265C>T (p.Pro89Ser) rs587783059
NM_000314.6(PTEN):c.388C>T (p.Arg130Ter) rs121909224
NM_000314.6(PTEN):c.389delG (p.Arg130Glnfs) rs121913292
NM_000314.6(PTEN):c.697C>T (p.Arg233Ter) rs121909219
NM_000314.6(PTEN):c.955_958delACTT (p.Thr319Terfs) rs146650273

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