ClinVar Miner

List of variants studied for immunodeficiency 14 by Baylor Genetics

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_005026.5(PIK3CD):c.1955+15C>T rs186998116 0.00003
NM_005026.5(PIK3CD):c.971G>A (p.Arg324His) rs773473376 0.00003
NM_005026.5(PIK3CD):c.1435G>A (p.Ala479Thr) rs1648293206
NM_005026.5(PIK3CD):c.3061G>A (p.Glu1021Lys) rs397518423

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