ClinVar Miner

List of variants reported as pathogenic for Cowden syndrome

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Total variants: 33
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HGVS dbSNP gnomAD frequency
NC_000010.10:g.(89712017_89717609)_(89731688_?)del
NM_000314.8(PTEN):c.1003C>T (p.Arg335Ter) rs121909231
NM_000314.8(PTEN):c.1007dup (p.Tyr336Ter) rs2132283619
NM_000314.8(PTEN):c.118G>T (p.Glu40Ter) rs869312778
NM_000314.8(PTEN):c.131G>A (p.Gly44Asp) rs1085308042
NM_000314.8(PTEN):c.165-1G>C rs786203847
NM_000314.8(PTEN):c.170_185del (p.Phe56_Leu57insTer)
NM_000314.8(PTEN):c.389G>A (p.Arg130Gln) rs121909229
NM_000314.8(PTEN):c.406T>C (p.Cys136Arg) rs786201044
NM_000314.8(PTEN):c.424del (p.Arg142fs) rs869312779
NM_000314.8(PTEN):c.510_513del (p.Ser170fs)
NM_000314.8(PTEN):c.697C>T (p.Arg233Ter) rs121909219
NM_000314.8(PTEN):c.750_751del (p.Cys250fs) rs780264945
NM_000314.8(PTEN):c.767_768del (p.Glu256fs) rs869312780
NM_000314.8(PTEN):c.955_958del (p.Leu318_Thr319insTer) rs146650273
NM_006218.4(PIK3CA):c.1030G>A (p.Val344Met) rs1057519942
NM_006218.4(PIK3CA):c.1093G>A (p.Glu365Lys) rs1064793732
NM_006218.4(PIK3CA):c.1133G>A (p.Cys378Tyr) rs397514565
NM_006218.4(PIK3CA):c.1258T>C (p.Cys420Arg) rs121913272
NM_006218.4(PIK3CA):c.1356AGA[1] (p.Glu453del) rs587776933
NM_006218.4(PIK3CA):c.1357G>A (p.Glu453Lys) rs1057519925
NM_006218.4(PIK3CA):c.1624G>A (p.Glu542Lys) rs121913273
NM_006218.4(PIK3CA):c.1635G>T (p.Glu545Asp) rs121913275
NM_006218.4(PIK3CA):c.2176G>A (p.Glu726Lys) rs867262025
NM_006218.4(PIK3CA):c.241G>A (p.Glu81Lys) rs1057519929
NM_006218.4(PIK3CA):c.263G>A (p.Arg88Gln) rs121913287
NM_006218.4(PIK3CA):c.2740G>A (p.Gly914Arg) rs587776932
NM_006218.4(PIK3CA):c.3062A>G (p.Tyr1021Cys) rs121913288
NM_006218.4(PIK3CA):c.3129G>A (p.Met1043Ile) rs121913283
NM_006218.4(PIK3CA):c.3129G>T (p.Met1043Ile) rs121913283
NM_006218.4(PIK3CA):c.3131A>G (p.Asn1044Ser) rs1064793838
NM_006218.4(PIK3CA):c.3139C>T (p.His1047Tyr) rs121913281
NM_006218.4(PIK3CA):c.353G>A (p.Gly118Asp) rs587777790

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