ClinVar Miner

List of variants in gene PIK3CA reported by Breakthrough Genomics, Breakthrough Genomics

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Gene type:
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Total variants: 36
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HGVS dbSNP gnomAD frequency
NM_006218.4(PIK3CA):c.2295-57C>G rs2699889 0.66727
NM_006218.4(PIK3CA):c.1059+62C>A rs2699895 0.57225
NM_006218.4(PIK3CA):c.1145+54A>G rs3729679 0.57144
NM_006218.4(PIK3CA):c.1060-17C>A rs2699896 0.55517
NM_006218.4(PIK3CA):c.352+40A>G rs3729674 0.26066
NM_006218.4(PIK3CA):c.2016-27A>T rs6443625 0.26014
NM_006218.4(PIK3CA):c.1060-69G>T rs3729676 0.25633
NM_006218.4(PIK3CA):c.2495+144G>T rs9823044 0.18609
NM_006218.4(PIK3CA):c.1173A>G (p.Ile391Met) rs2230461 0.10052
NM_006218.4(PIK3CA):c.1664+105T>G rs17849071 0.07959
NM_006218.4(PIK3CA):c.1146-38T>C rs3729682 0.07929
NM_006218.4(PIK3CA):c.2015+37A>G rs11918324 0.07925
NM_006218.4(PIK3CA):c.2666+95A>C rs3729692 0.05291
NM_006218.4(PIK3CA):c.1747-13T>C rs41273619 0.05277
NM_006218.4(PIK3CA):c.2495+73C>G rs1356413 0.05013
NM_006218.4(PIK3CA):c.1540-55C>T rs45455192 0.04556
NM_006218.4(PIK3CA):c.2936+32A>G rs3729693 0.03813
NM_006218.4(PIK3CA):c.2187+73T>C rs3729689 0.03381
NM_006218.4(PIK3CA):c.1251+157C>T rs3729681 0.03112
NM_006218.4(PIK3CA):c.1060-18C>A rs3729677 0.02605
NM_006218.4(PIK3CA):c.2666+59C>T rs17849077 0.01744
NM_006218.4(PIK3CA):c.3075C>T (p.Thr1025=) rs17849079 0.01569
NM_006218.4(PIK3CA):c.1664+91C>T rs114587137 0.01240
NM_006218.4(PIK3CA):c.-76-19T>C rs11709323 0.00739
NM_006218.4(PIK3CA):c.363C>T (p.Ile121=) rs115746478 0.00712
NM_006218.4(PIK3CA):c.1146-30G>A rs8192676 0.00307
NM_006218.4(PIK3CA):c.1143C>G (p.Pro381=) rs72561481 0.00303
NM_006218.4(PIK3CA):c.-76-34C>G rs116535529 0.00300
NM_006218.4(PIK3CA):c.2016-12C>T rs147286696 0.00275
NM_006218.4(PIK3CA):c.1788A>G (p.Glu596=) rs137902538 0.00270
NM_006218.4(PIK3CA):c.2016-29A>T rs374926790 0.00242
NM_006218.4(PIK3CA):c.1665-44C>A rs141589697 0.00167
NM_006218.4(PIK3CA):c.1746+42T>C rs200409955 0.00133
NM_006218.4(PIK3CA):c.2181A>T (p.Thr727=) rs116336243 0.00117
NM_006218.4(PIK3CA):c.2188-21C>T rs141065099 0.00069
NM_006218.4(PIK3CA):c.2592C>T (p.Gly864=) rs780492649 0.00001

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