ClinVar Miner

List of variants in gene PTEN reported as uncertain significance for Cowden syndrome 1

Included ClinVar conditions (8):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 37
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HGVS dbSNP
NM_000314.4(PTEN):c.-868G>C rs587782133
NM_000314.4(PTEN):c.-943C>T rs587779999
NM_000314.7(PTEN):c.*10del rs756681683
NM_000314.7(PTEN):c.*10dup rs756681683
NM_000314.7(PTEN):c.-111G>T rs761148721
NM_000314.7(PTEN):c.-665G>A rs553371022
NM_000314.7(PTEN):c.-764G>A rs587776674
NM_000314.7(PTEN):c.-821G>T rs587779993
NM_000314.7(PTEN):c.-834C>T rs587779994
NM_000314.7(PTEN):c.1004G>T (p.Arg335Leu) rs1085308040
NM_000314.7(PTEN):c.1061C>A (p.Pro354Gln) rs375709098
NM_000314.7(PTEN):c.1061C>T (p.Pro354Leu) rs375709098
NM_000314.7(PTEN):c.1069C>A (p.Pro357Thr) rs876661264
NM_000314.7(PTEN):c.1078A>G (p.Ser360Gly) rs587781273
NM_000314.7(PTEN):c.1093G>A (p.Val365Ile) rs758542021
NM_000314.7(PTEN):c.210-39A>G rs370918174
NM_000314.7(PTEN):c.210-7_210-3del rs587780544
NM_000314.7(PTEN):c.210-8del rs1554897849
NM_000314.7(PTEN):c.235G>A (p.Ala79Thr) rs202004587
NM_000314.7(PTEN):c.235G>T (p.Ala79Ser) rs202004587
NM_000314.7(PTEN):c.254-30dup rs77494260
NM_000314.7(PTEN):c.254-51A>T rs1554898040
NM_000314.7(PTEN):c.254-72A>T rs1554898037
NM_000314.7(PTEN):c.265C>T (p.Pro89Ser) rs587783059
NM_000314.7(PTEN):c.464A>G (p.Tyr155Cys) rs1060500126
NM_000314.7(PTEN):c.493-31A>G rs550267891
NM_000314.7(PTEN):c.493-52A>G rs1043121029
NM_000314.7(PTEN):c.613A>G (p.Met205Val) rs776763121
NM_000314.7(PTEN):c.685T>A (p.Ser229Thr) rs587781998
NM_000314.7(PTEN):c.78C>T (p.Thr26=) rs786201280
NM_000314.7(PTEN):c.80-3C>G rs1554893746
NM_000314.7(PTEN):c.802-3T>A rs587780712
NM_000314.7(PTEN):c.802-51_802-14del rs557364463
NM_000314.7(PTEN):c.862G>A (p.Glu288Lys) rs1554825528
NM_000314.7(PTEN):c.882T>G (p.Ser294Arg) rs143335584
NM_000314.7(PTEN):c.892C>G (p.Gln298Glu) rs371387815
NM_000314.7(PTEN):c.914G>A (p.Ser305Asn) rs587780007

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