ClinVar Miner

List of variants in gene PIK3CD reported as pathogenic for Immunodeficiency 14b, autosomal recessive

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Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_005026.5(PIK3CD):c.1654del (p.Val552fs)	rs2100956273
NM_005026.5(PIK3CD):c.2558_2559del (p.Asp853fs)	rs2100990445

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