ClinVar Miner

List of variants reported as benign for Cowden syndrome by Invitae

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Total variants: 19
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HGVS dbSNP gnomAD frequency
NM_006218.4(PIK3CA):c.1060-17C>A rs2699896 0.55517
NM_006218.4(PIK3CA):c.1173A>G (p.Ile391Met) rs2230461 0.10578
NM_006218.4(PIK3CA):c.1747-13T>C rs41273619 0.05277
NM_006218.4(PIK3CA):c.3075C>T (p.Thr1025=) rs17849079 0.01239
NM_006218.4(PIK3CA):c.363C>T (p.Ile121=) rs115746478 0.00769
NM_006218.4(PIK3CA):c.2298T>G (p.Leu766=) rs116164892 0.00404
NM_006218.4(PIK3CA):c.*29T>C rs141178472 0.00333
NM_006218.4(PIK3CA):c.1143C>G (p.Pro381=) rs72561481 0.00303
NM_006218.4(PIK3CA):c.1788A>G (p.Glu596=) rs137902538 0.00299
NM_006218.4(PIK3CA):c.2016-12C>T rs147286696 0.00275
NM_006218.4(PIK3CA):c.2181A>T (p.Thr727=) rs116336243 0.00117
NM_006218.4(PIK3CA):c.1747-9C>T rs201779641 0.00046
NM_006218.4(PIK3CA):c.2985C>T (p.Ala995=) rs201884756 0.00018
NM_006218.4(PIK3CA):c.318C>A (p.Gly106=) rs201193059 0.00016
NM_006218.4(PIK3CA):c.1125A>G (p.Arg375=) rs200568210 0.00012
NM_006218.4(PIK3CA):c.2198A>G (p.Lys733Arg) rs181194055 0.00011
NM_006218.4(PIK3CA):c.1809C>T (p.Asp603=) rs558223824
NM_006218.4(PIK3CA):c.2188-7dup rs35213509

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