ClinVar Miner

List of variants studied 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: 28
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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.1455C>A (p.Tyr485Ter) rs193922124
NM_000061.2(BTK):c.1511A>T (p.Asp504Val) rs193922125
NM_000061.2(BTK):c.1574G>A (p.Arg525Gln) rs128620183
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.176_178AGA[1] (p.Lys60del)
NM_000061.2(BTK):c.1773C>A (p.Tyr591Ter) rs128621207
NM_000061.2(BTK):c.215dup (p.Asn72fs) rs886041148
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.37C>T (p.Arg13Ter) rs128620187
NM_000061.2(BTK):c.391+143dupA rs193922127
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.655del (p.Val219fs) rs1569292810
NM_000061.2(BTK):c.755G>A (p.Trp252Ter) rs128621192
NM_000061.2(BTK):c.777-2A>G rs193922129
NM_000061.2(BTK):c.777-3C>G rs193922130
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
NM_012452.2(TNFRSF13B):c.*86_*88delTGA rs150068036
NM_012452.2(TNFRSF13B):c.659T>C (p.Val220Ala) rs56063729
NM_012452.2(TNFRSF13B):c.81G>A (p.Thr27=) rs8072293

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