ClinVar Miner

List of variants studied for agammaglobulinemia by SIB Swiss Institute of Bioinformatics

Included ClinVar conditions (46):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_003120.3(SPI1):c.328C>T (p.Gln110Ter) rs2142884393
NM_003120.3(SPI1):c.363C>A (p.Tyr121Ter) rs2095916574
NM_003120.3(SPI1):c.632A>C (p.His211Pro) rs2095906547
NM_003120.3(SPI1):c.722T>G (p.Val241Gly) rs2095906404
NM_005026.5(PIK3CD):c.3061G>A (p.Glu1021Lys) rs397518423

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