ClinVar Miner

List of variants studied for Cowden syndrome 5

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Total variants: 29
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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.1143C>G (p.Pro381=) rs72561481 0.00303
NM_006218.4(PIK3CA):c.1788A>G (p.Glu596=) rs137902538 0.00299
NM_006218.4(PIK3CA):c.1665-44C>A rs141589697 0.00167
NM_006218.4(PIK3CA):c.2181A>T (p.Thr727=) rs116336243 0.00117
NM_006218.4(PIK3CA):c.1056T>C (p.Asp352=) rs1131681 0.00022
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.1145G>A (p.Arg382Lys) rs587777794 0.00001
NM_006218.4(PIK3CA):c.2530T>C (p.Cys844Arg) rs756890248 0.00001
NM_006218.4(PIK3CA):c.644G>A (p.Cys215Tyr) rs1724405220 0.00001
NM_006218.3(PIK3CA):c.[1634A>C;1658_1659delGTinsC]
NM_006218.4(PIK3CA):c.1030G>A (p.Val344Met) rs1057519942
NM_006218.4(PIK3CA):c.1066G>A (p.Val356Ile) rs587777793
NM_006218.4(PIK3CA):c.1610G>A (p.Arg537Gln) rs1724887307
NM_006218.4(PIK3CA):c.1873G>A (p.Asp625Asn)
NM_006218.4(PIK3CA):c.1895T>G (p.Leu632Ter) rs587777796
NM_006218.4(PIK3CA):c.2667-20G>A
NM_006218.4(PIK3CA):c.2740G>A (p.Gly914Arg) rs587776932
NM_006218.4(PIK3CA):c.2T>C (p.Met1Thr)
NM_006218.4(PIK3CA):c.320A>G (p.Asn107Ser) rs2108386309
NM_006218.4(PIK3CA):c.331A>G (p.Lys111Glu) rs1057519933
NM_006218.4(PIK3CA):c.353G>A (p.Gly118Asp) rs587777790
NM_006218.4(PIK3CA):c.403G>A (p.Glu135Lys) rs587777791
NM_006218.4(PIK3CA):c.652G>A (p.Glu218Lys) rs587777792

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