ClinVar Miner

List of variants studied for Immunodeficiency 14b, autosomal recessive

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Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_005026.5(PIK3CD):c.2348-30C>T rs11589267 0.33011
NM_005026.5(PIK3CD):c.2808C>T (p.Tyr936=) rs11121484 0.22663
NM_005026.5(PIK3CD):c.1654del (p.Val552fs) rs2100956273
NM_005026.5(PIK3CD):c.2558_2559del (p.Asp853fs) rs2100990445
NM_005026.5(PIK3CD):c.266_273del (p.Leu89fs)
NM_005026.5(PIK3CD):c.2997G>A (p.Lys999=) rs1463951620
NM_005026.5(PIK3CD):c.317dup (p.Asp107fs)

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