ClinVar Miner

List of variants in gene BTK reported as benign for agammaglobulinemia

Included ClinVar conditions (45):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_000061.3(BTK):c.1899C>T (p.Cys633=) rs1135363 0.37760
NM_000061.3(BTK):c.*116A>C rs700 0.35507
NM_000061.3(BTK):c.*192G>A rs1057403 0.32006
NM_000061.3(BTK):c.776+78G>A rs2855259 0.16810
NM_000061.3(BTK):c.*334T>G rs183674618 0.02721
NM_000061.3(BTK):c.954T>C (p.Ser318=) rs5991926 0.01964
NM_000061.3(BTK):c.*221G>T rs1122765 0.00340
NM_000061.3(BTK):c.1909-9T>C rs782702231 0.00029
NM_000061.3(BTK):c.1631+71C>T rs2071223
NM_000061.3(BTK):c.520+15C>T rs782697907

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