ClinVar Miner

List of variants in gene PIK3R1 reported by OMIM

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Total variants: 13
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HGVS dbSNP gnomAD frequency
NM_181523.3(PIK3R1):c.1300-1G>C rs1554051033
NM_181523.3(PIK3R1):c.1425+1G>A rs587777709
NM_181523.3(PIK3R1):c.1425+1G>C rs587777709
NM_181523.3(PIK3R1):c.1425+1G>T rs587777709
NM_181523.3(PIK3R1):c.1425+2T>A rs1554051075
NM_181523.3(PIK3R1):c.1425+2T>G rs1554051075
NM_181523.3(PIK3R1):c.1425+2_1425+3del rs1554051067
NM_181523.3(PIK3R1):c.1465G>A (p.Glu489Lys) rs397514047
NM_181523.3(PIK3R1):c.1612ATT[1] (p.Ile539del) rs397514046
NM_181523.3(PIK3R1):c.1906_1907insC (p.Asn636fs) rs398122385
NM_181523.3(PIK3R1):c.1943dup (p.Arg649fs) rs398122384
NM_181523.3(PIK3R1):c.1945C>T (p.Arg649Trp) rs397515453
NM_181523.3(PIK3R1):c.893G>A (p.Trp298Ter) rs397509384

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