ClinVar Miner

List of variants studied for immunodeficiency 14 by Clinical Genomics Laboratory, Washington University in St. Louis

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_005026.5(PIK3CD):c.1607A>G (p.His536Arg) rs1198694875 0.00003
NM_005026.5(PIK3CD):c.323G>T (p.Arg108Leu) rs765031777 0.00003
NM_005026.5(PIK3CD):c.971G>A (p.Arg324His) rs773473376 0.00003

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