ClinVar Miner

List of variants reported as likely benign for Cowden syndrome 1

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Total variants: 40
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HGVS dbSNP gnomAD frequency
NM_006218.4(PIK3CA):c.-138C>T rs149946088 0.00383
NM_006218.4(PIK3CA):c.1146-30G>A rs8192676 0.00308
NM_001126049.2(KLLN):c.-898G>A rs538728843 0.00262
NM_000314.8(PTEN):c.801+23G>A rs116160352 0.00091
NM_006218.4(PIK3CA):c.1747-9C>T rs201779641 0.00046
NM_000314.8(PTEN):c.234C>T (p.Thr78=) rs35917308 0.00016
NM_000314.8(PTEN):c.802-12T>C rs587781129 0.00015
NM_000314.8(PTEN):c.1197A>G (p.Gln399=) rs374684043 0.00012
NM_000314.8(PTEN):c.235G>A (p.Ala79Thr) rs202004587 0.00011
NM_006218.4(PIK3CA):c.168C>T (p.Tyr56=) rs200868796 0.00011
NM_000314.8(PTEN):c.579G>A (p.Leu193=) rs568851024 0.00010
NM_000314.8(PTEN):c.802-54_802-16del rs1028746954 0.00010
NM_000314.8(PTEN):c.720C>T (p.Tyr240=) rs190070312 0.00006
NM_000314.8(PTEN):c.1061C>A (p.Pro354Gln) rs375709098 0.00003
NM_000314.8(PTEN):c.635-16G>A rs750772657 0.00003
NM_000314.8(PTEN):c.261A>G (p.Gln87=) rs149772796 0.00002
NM_000314.8(PTEN):c.900C>T (p.Ile300=) rs550122918 0.00002
NM_006218.4(PIK3CA):c.1767T>C (p.Asp589=) rs199540873 0.00002
NM_006218.4(PIK3CA):c.2418T>C (p.Asp806=) rs199693043 0.00002
NM_000314.8(PTEN):c.210-12C>T rs766570103 0.00001
NM_000314.8(PTEN):c.210-17T>C rs750987148 0.00001
NM_000314.8(PTEN):c.210-26A>G rs776849737 0.00001
NM_000314.8(PTEN):c.210-9T>C rs751744545 0.00001
NM_000314.8(PTEN):c.738G>A (p.Pro246=) rs774364894 0.00001
NM_000314.8(PTEN):c.801+8C>G rs1057517630 0.00001
NM_006218.4(PIK3CA):c.1060-9T>C rs750875731 0.00001
NM_000314.8(PTEN):c.-500GGC[6] rs1237307954
NM_000314.8(PTEN):c.-735G>A rs886047384
NM_000314.8(PTEN):c.1026+38dup rs767896771
NM_000314.8(PTEN):c.165-17G>C rs898943632
NM_000314.8(PTEN):c.165-24TTTG[2] rs786204877
NM_000314.8(PTEN):c.165-8_165-4del rs760571273
NM_000314.8(PTEN):c.210-26A>T rs776849737
NM_000314.8(PTEN):c.210-7_210-3del rs587780544
NM_000314.8(PTEN):c.254-40A>G rs767049245
NM_000314.8(PTEN):c.493-12dup rs756623620
NM_000314.8(PTEN):c.66C>T (p.Asp22=) rs786201335
NM_000314.8(PTEN):c.79+23_79+25del rs1221062997
NM_000314.8(PTEN):c.802-6T>G rs1057522284
NM_006218.4(PIK3CA):c.1743C>T (p.Ala581=) rs370692448

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