ClinVar Miner

List of variants in gene PIK3R2 reported by Breakthrough Genomics, Breakthrough Genomics

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Total variants: 22
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HGVS dbSNP gnomAD frequency
NM_005027.4(PIK3R2):c.937T>C (p.Ser313Pro) rs1011320 0.95640
NM_005027.4(PIK3R2):c.1417-114T>C rs4808755 0.89453
NM_005027.4(PIK3R2):c.1109+94A>G rs2006885 0.89411
NM_005027.4(PIK3R2):c.1109+223T>A rs1985976 0.88882
NM_005027.4(PIK3R2):c.1911T>C (p.Ser637=) rs273269 0.85794
NM_005027.4(PIK3R2):c.1980-81A>G rs3746187 0.37638
NM_005027.4(PIK3R2):c.1559+94G>A rs3730179 0.32317
NM_005027.4(PIK3R2):c.2127C>T (p.Thr709=) rs112813367 0.04637
NM_005027.4(PIK3R2):c.2179G>A (p.Ala727Thr) rs149081991 0.03829
NM_005027.4(PIK3R2):c.903G>A (p.Ala301=) rs28730848 0.03749
NM_005027.4(PIK3R2):c.2080C>T (p.Leu694=) rs116321373 0.01259
NM_005027.4(PIK3R2):c.2163C>T (p.Pro721=) rs147625988 0.01026
NM_005027.4(PIK3R2):c.291C>T (p.Pro97=) rs201655779 0.00714
NM_005027.4(PIK3R2):c.1560-17C>T rs183117011 0.00461
NM_005027.4(PIK3R2):c.451C>T (p.Pro151Ser) rs143873873 0.00450
NM_005027.4(PIK3R2):c.1643C>T (p.Ala548Val) rs10413655 0.00226
NM_005027.4(PIK3R2):c.1953G>A (p.Gln651=) rs112859649 0.00108
NM_005027.4(PIK3R2):c.10C>T (p.Pro4Ser) rs142933317 0.00080
NM_005027.4(PIK3R2):c.1938C>T (p.Ile646=) rs146987351 0.00075
NM_005027.4(PIK3R2):c.817A>T (p.Ser273Cys) rs147990742 0.00055
NM_005027.4(PIK3R2):c.-18C>T rs148245146 0.00035
NM_005027.4(PIK3R2):c.1986C>T (p.Asp662=) rs749028997 0.00007

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