ClinVar Miner

List of variants studied for X-linked agammaglobulinemia by Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre

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Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_000061.3(BTK):c.1566_1566+9del rs2520551116
NM_000061.3(BTK):c.1635T>A (p.Tyr545Ter) rs2147425059
NM_000061.3(BTK):c.1771dup (p.Tyr591fs)
NM_000061.3(BTK):c.763C>T (p.Arg255Ter) rs128621193
NM_000061.3(BTK):c.82C>T (p.Arg28Cys) rs1927168815

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