ClinVar Miner

List of variants studied for agammaglobulinemia by Fulgent Genetics,Fulgent Genetics

Included ClinVar conditions (31):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 6
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HGVS dbSNP
NM_001364905.1(LRBA):c.2209G>A (p.Val737Ile) rs151213445
NM_001364905.1(LRBA):c.5084T>C (p.Val1695Ala) rs200935054
NM_001364905.1(LRBA):c.7637A>G (p.Gln2546Arg) rs769697590
NM_005026.5(PIK3CD):c.1513G>A (p.Glu505Lys) rs545136223
NM_181523.3(PIK3R1):c.1945C>T (p.Arg649Trp) rs397515453
NM_181523.3(PIK3R1):c.961G>A (p.Gly321Ser) rs142439210

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