ClinVar Miner

List of variants studied for agammaglobulinemia by Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital

Included ClinVar conditions (31):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 18
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NM_000061.2(BTK):c.1116G>C (p.Arg372Ser) rs1555978024
NM_000061.2(BTK):c.141+3_141+6del rs1555980866
NM_000061.2(BTK):c.1475G>A (p.Arg492His) rs782338603
NM_000061.2(BTK):c.1558C>T (p.Arg520Ter) rs128621201
NM_000061.2(BTK):c.1567-2A>T rs1555977598
NM_000061.2(BTK):c.1574G>A (p.Arg525Gln) rs128620183
NM_000061.2(BTK):c.1581_1584del (p.Cys527fs) rs1555977592
NM_000061.2(BTK):c.161del (p.Gly54fs) rs1555980799
NM_000061.2(BTK):c.1630_1631+3delinsGAAA rs1555977580
NM_000061.2(BTK):c.1684C>T (p.Arg562Trp) rs128621204
NM_000061.2(BTK):c.1706T>C (p.Leu569Pro) rs1555977461
NM_000061.2(BTK):c.1946del (p.Ser649fs) rs1555976766
NM_000061.2(BTK):c.371G>A (p.Trp124Ter) rs1555980049
NM_000061.2(BTK):c.435C>A (p.Cys145Ter) rs1555978891
NM_000061.2(BTK):c.763C>T (p.Arg255Ter) rs128621193
NM_000061.2(BTK):c.83G>A (p.Arg28His) rs128620185
NM_000061.2(BTK):c.863G>A (p.Arg288Gln) rs1555978277
NM_000061.2(BTK):c.953C>T (p.Ser318Phe) rs1555978197

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