ClinVar Miner

List of variants reported as pathogenic for agammaglobulinemia by Integrated Genetics/Laboratory Corporation of America

Included ClinVar conditions (31):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 7
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NM_000061.2(BTK):c.1455C>A (p.Tyr485Ter) rs193922124
NM_000061.2(BTK):c.1574G>A (p.Arg525Gln) rs128620183
NM_000061.2(BTK):c.215dup (p.Asn72fs) rs886041148
NM_000061.2(BTK):c.37C>T (p.Arg13Ter) rs128620187
NM_000061.2(BTK):c.755G>A (p.Trp252Ter) rs128621192
NM_000061.3(BTK):c.655del (p.Val219fs) rs1569292810
NM_001287344.1(BTK):c.278_280AGA[1] (p.Lys94del)

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