ClinVar Miner

List of variants in gene PIK3R1 reported as likely benign by Genetic Services Laboratory, University of Chicago

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Gene type:
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Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_181523.3(PIK3R1):c.334+14A>C rs706714 0.31124
NM_181523.3(PIK3R1):c.219C>T (p.Tyr73=) rs706713 0.31073
NM_181523.3(PIK3R1):c.978G>A (p.Met326Ile) rs3730089 0.22679
NM_181523.3(PIK3R1):c.1176C>T (p.Phe392=) rs3730090 0.04903
NM_181523.3(PIK3R1):c.2109T>C (p.Leu703=) rs3729981 0.04683
NM_181523.3(PIK3R1):c.621T>C (p.Ile207=) rs61749601 0.02836
NM_181523.3(PIK3R1):c.*3C>T rs41268435 0.00989
NM_181523.3(PIK3R1):c.427+5C>A rs375394677 0.00088
NM_181523.3(PIK3R1):c.634+6T>C rs199530427 0.00020
NM_181523.3(PIK3R1):c.291T>G (p.Val97=) rs751812106

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