ClinVar Miner

List of variants in gene PIK3R1 reported as uncertain significance for agammaglobulinemia

Included ClinVar conditions (31):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 13
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NM_181523.3(PIK3R1):c.1019+6G>C rs749016701
NM_181523.3(PIK3R1):c.170A>G (p.Asn57Ser)
NM_181523.3(PIK3R1):c.202G>A (p.Asp68Asn) rs755043940
NM_181523.3(PIK3R1):c.504T>A (p.Asp168Glu) rs758929943
NM_181523.3(PIK3R1):c.554C>T (p.Ala185Val)
NM_181523.3(PIK3R1):c.611G>A (p.Ser204Asn) rs771919405
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.917-1513G>T rs144312303
NM_181523.3(PIK3R1):c.961G>A (p.Gly321Ser) rs142439210

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