ClinVar Miner

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

Included ClinVar conditions (15):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 55
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HGVS dbSNP gnomAD frequency
NM_000314.8(PTEN):c.210-39A>G rs370918174 0.00177
NM_000314.8(PTEN):c.882T>G (p.Ser294Arg) rs143335584 0.00029
NM_000314.8(PTEN):c.235G>A (p.Ala79Thr) rs202004587 0.00011
NM_000314.8(PTEN):c.892C>G (p.Gln298Glu) rs371387815 0.00009
NM_000314.8(PTEN):c.-111G>T rs761148721 0.00006
NM_000314.8(PTEN):c.493-31A>G rs550267891 0.00006
NM_000314.8(PTEN):c.-121A>G rs886047395 0.00004
NM_000314.8(PTEN):c.1061C>A (p.Pro354Gln) rs375709098 0.00003
NM_000314.8(PTEN):c.493-52A>G rs1043121029 0.00003
NM_000314.8(PTEN):c.-765G>A rs587776674 0.00002
NM_000314.8(PTEN):c.1078A>G (p.Ser360Gly) rs587781273 0.00002
NM_000314.8(PTEN):c.261A>G (p.Gln87=) rs149772796 0.00002
NM_000314.8(PTEN):c.1093G>A (p.Val365Ile) rs758542021 0.00001
NM_000314.8(PTEN):c.613A>G (p.Met205Val) rs776763121 0.00001
NM_000314.8(PTEN):c.77C>T (p.Thr26Ile) rs786204853 0.00001
NM_000314.8(PTEN):c.78C>T (p.Thr26=) rs786201280 0.00001
NM_000314.8(PTEN):c.*10del rs756681683
NM_000314.8(PTEN):c.*10dup rs756681683
NM_000314.8(PTEN):c.-17G>C rs1064793744
NM_000314.8(PTEN):c.-752G>A rs1256922808
NM_000314.8(PTEN):c.-752GGC[4] rs933847861
NM_000314.8(PTEN):c.1003C>T (p.Arg335Ter) rs121909231
NM_000314.8(PTEN):c.1004G>T (p.Arg335Leu) rs1085308040
NM_000314.8(PTEN):c.1061C>T (p.Pro354Leu) rs375709098
NM_000314.8(PTEN):c.1069C>A (p.Pro357Thr) rs876661264
NM_000314.8(PTEN):c.1189C>T (p.His397Tyr) rs1589669413
NM_000314.8(PTEN):c.178A>C (p.Lys60Gln)
NM_000314.8(PTEN):c.210-7_210-3del rs587780544
NM_000314.8(PTEN):c.210-8del rs1554897849
NM_000314.8(PTEN):c.235G>T (p.Ala79Ser) rs202004587
NM_000314.8(PTEN):c.254-20A>G
NM_000314.8(PTEN):c.254-21G>C rs1859963198
NM_000314.8(PTEN):c.254-30dup rs77494260
NM_000314.8(PTEN):c.254-51A>T rs1554898040
NM_000314.8(PTEN):c.254-6C>T rs1057520525
NM_000314.8(PTEN):c.254-72A>T rs1554898037
NM_000314.8(PTEN):c.265C>T (p.Pro89Ser) rs587783059
NM_000314.8(PTEN):c.457G>C (p.Asp153His) rs9651492
NM_000314.8(PTEN):c.464A>G (p.Tyr155Cys) rs1060500126
NM_000314.8(PTEN):c.488A>G (p.Lys163Arg) rs786202753
NM_000314.8(PTEN):c.529T>A (p.Tyr177Asn) rs1860418425
NM_000314.8(PTEN):c.529T>G (p.Tyr177Asp) rs1860418425
NM_000314.8(PTEN):c.593T>C (p.Met198Thr) rs1554900635
NM_000314.8(PTEN):c.599T>C (p.Phe200Ser) rs786204867
NM_000314.8(PTEN):c.66C>G (p.Asp22Glu) rs786201335
NM_000314.8(PTEN):c.685T>A (p.Ser229Thr) rs587781998
NM_000314.8(PTEN):c.700C>T (p.Arg234Trp) rs786201730
NM_000314.8(PTEN):c.752G>A (p.Gly251Asp) rs1554825226
NM_000314.8(PTEN):c.781C>G (p.Gln261Glu) rs730882131
NM_000314.8(PTEN):c.80-3C>G rs1554893746
NM_000314.8(PTEN):c.802-3T>A rs587780712
NM_000314.8(PTEN):c.802-51_802-14del rs557364463
NM_000314.8(PTEN):c.862G>A (p.Glu288Lys) rs1554825528
NM_000314.8(PTEN):c.914G>A (p.Ser305Asn) rs587780007
NM_000314.8(PTEN):c.922C>T (p.Arg308Cys) rs1064794436

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