ClinVar Miner

List of variants reported as likely pathogenic for X-linked agammaglobulinemia

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Total variants: 16
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HGVS dbSNP
NM_000061.2(BTK):c.1138C>T (p.Gln380Ter) rs1569292021
NM_000061.2(BTK):c.1442G>C (p.Cys481Ser) rs1057519825
NM_000061.2(BTK):c.1511A>T (p.Asp504Val) rs193922125
NM_000061.2(BTK):c.164C>A (p.Ser55Ter) rs1555980796
NM_000061.2(BTK):c.1673_1680del (p.Lys558fs) rs193922126
NM_000061.2(BTK):c.1773C>A (p.Tyr591Ter) rs128621207
NM_000061.2(BTK):c.240G>A (p.Pro80=) rs1569296295
NM_000061.2(BTK):c.371G>A (p.Trp124Ter) rs1555980049
NM_000061.2(BTK):c.472_475del (p.Thr158fs) rs193922128
NM_000061.2(BTK):c.588+1G>T rs1569293252
NM_000061.2(BTK):c.588+2T>A rs1555978777
NM_000061.2(BTK):c.777-2A>G rs193922129
NM_000061.2(BTK):c.799_806del (p.Asn267fs) rs1555978412
NM_000061.2(BTK):c.840-1G>A rs193922131
NM_000061.2(BTK):c.895-2A>G rs193922132
NM_000061.2(BTK):c.998A>G (p.His333Arg) rs193922133

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