ClinVar Miner

List of variants in gene BTK reported by NIHR Bioresource Rare Diseases, University of Cambridge

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_000061.3(BTK):c.1580G>A (p.Cys527Tyr) rs1057520578
NM_000061.3(BTK):c.240G>A (p.Pro80=) rs1569296295
NM_000061.3(BTK):c.43C>T (p.Gln15Ter) rs128620188
NM_000061.3(BTK):c.764G>A (p.Arg255Gln) rs1603008329
NM_000061.3(BTK):c.837T>A (p.Tyr279Ter) rs1603007888

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