ClinVar Miner

List of variants reported as benign for agammaglobulinemia 7, autosomal recessive

Included ClinVar conditions (2):
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ClinVar version:
Total variants: 20
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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.428-21G>A rs171649 0.28654
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.1118+11G>A rs140892282 0.00661
NM_181523.3(PIK3R1):c.195A>G (p.Glu65=) rs73768883 0.00567
NM_181523.3(PIK3R1):c.687G>A (p.Ser229=) rs34175949 0.00140
NM_181523.3(PIK3R1):c.1426-20T>G rs201254436 0.00083
NM_181523.3(PIK3R1):c.334+12T>C rs189754791 0.00068
NM_181523.3(PIK3R1):c.634+6T>C rs199530427 0.00020
NM_181523.3(PIK3R1):c.1170T>C (p.Tyr390=) rs17847317 0.00015
NM_181523.3(PIK3R1):c.306G>A (p.Ser102=) rs538021528 0.00011
NM_181523.3(PIK3R1):c.1569-18C>T rs557466936 0.00001
NM_181523.3(PIK3R1):c.571C>T (p.Leu191=) rs533077843 0.00001
NM_181523.3(PIK3R1):c.1050A>G (p.Thr350=)
NM_181523.3(PIK3R1):c.837-7C>T rs571365105
NM_181523.3(PIK3R1):c.916+9T>G

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