ClinVar Miner

List of variants in gene PIK3R1 studied for agammaglobulinemia

Included ClinVar conditions (31):
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Gene type:
ClinVar version:
Total variants: 30
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HGVS dbSNP
NM_181523.3(PIK3R1):c.1019+6G>C rs749016701
NM_181523.3(PIK3R1):c.1300-10A>C rs377666209
NM_181523.3(PIK3R1):c.1300-1G>C rs1554051033
NM_181523.3(PIK3R1):c.1381C>T (p.Arg461Ter) rs1057519838
NM_181523.3(PIK3R1):c.1396T>C (p.Leu466=) rs754454562
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.170A>G (p.Asn57Ser)
NM_181523.3(PIK3R1):c.1710dup (p.Ile571fs) rs1561299903
NM_181523.3(PIK3R1):c.1945C>T (p.Arg649Trp) rs397515453
NM_181523.3(PIK3R1):c.202G>A (p.Asp68Asn) rs755043940
NM_181523.3(PIK3R1):c.2109T>C (p.Leu703=) rs3729981
NM_181523.3(PIK3R1):c.427+4A>C
NM_181523.3(PIK3R1):c.504T>A (p.Asp168Glu) rs758929943
NM_181523.3(PIK3R1):c.536T>C (p.Val179Ala) rs771949848
NM_181523.3(PIK3R1):c.554C>T (p.Ala185Val)
NM_181523.3(PIK3R1):c.611G>A (p.Ser204Asn) rs771919405
NM_181523.3(PIK3R1):c.621T>C (p.Ile207=) rs61749601
NM_181523.3(PIK3R1):c.635-7C>G rs1561289181
NM_181523.3(PIK3R1):c.649G>A (p.Glu217Lys) rs540361957
NM_181523.3(PIK3R1):c.65T>C (p.Ile22Thr) rs150689648
NM_181523.3(PIK3R1):c.716C>T (p.Thr239Met)
NM_181523.3(PIK3R1):c.893G>A (p.Trp298Ter) rs397509384
NM_181523.3(PIK3R1):c.917-1513G>T rs144312303
NM_181523.3(PIK3R1):c.961G>A (p.Gly321Ser) rs142439210
NM_181523.3(PIK3R1):c.965del (p.Met322fs)

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