ClinVar Miner

List of variants in gene PIK3CD reported as pathogenic by Invitae

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Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_005026.5(PIK3CD):c.1002C>G (p.Asn334Lys) rs28730670
NM_005026.5(PIK3CD):c.1570T>A (p.Tyr524Asn) rs2100954909
NM_005026.5(PIK3CD):c.1571A>C (p.Tyr524Ser) rs2100954945
NM_005026.5(PIK3CD):c.1573G>A (p.Glu525Lys) rs587777389
NM_005026.5(PIK3CD):c.1574A>G (p.Glu525Gly) rs1557669079
NM_005026.5(PIK3CD):c.3061G>A (p.Glu1021Lys) rs397518423
NM_005026.5(PIK3CD):c.3074A>G (p.Glu1025Gly) rs1064795762

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