List of variants reported as likely pathogenic for X-linked agammaglobulinemia by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

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Total variants: 19

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HGVS	dbSNP	gnomAD frequency
NM_000061.3(BTK):c.1511A>T (p.Asp504Val)	rs193922125
NM_000061.3(BTK):c.164C>A (p.Ser55Ter)	rs1555980796
NM_000061.3(BTK):c.1673_1680del (p.Lys558fs)	rs193922126
NM_000061.3(BTK):c.1713T>G (p.Tyr571Ter)	rs1926380106
NM_000061.3(BTK):c.1716dup (p.Lys573fs)	rs2147424879
NM_000061.3(BTK):c.1773C>A (p.Tyr591Ter)	rs128621207
NM_000061.3(BTK):c.1889T>C (p.Met630Thr)	rs128621210
NM_000061.3(BTK):c.1922G>C (p.Arg641Pro)
NM_000061.3(BTK):c.233del (p.Gln78fs)	rs2147447513
NM_000061.3(BTK):c.240G>A (p.Pro80=)	rs1569296295
NM_000061.3(BTK):c.371G>A (p.Trp124Ter)	rs1555980049
NM_000061.3(BTK):c.588+1G>T	rs1569293252
NM_000061.3(BTK):c.588+2T>A	rs1555978777
NM_000061.3(BTK):c.777-2A>G	rs193922129
NM_000061.3(BTK):c.799_806del (p.Asn267fs)	rs1555978412
NM_000061.3(BTK):c.806del (p.Val269fs)	rs1926614700
NM_000061.3(BTK):c.840-1G>A	rs193922131
NM_000061.3(BTK):c.895-2A>G	rs193922132
NM_000061.3(BTK):c.998A>G (p.His333Arg)	rs193922133

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