ClinVar Miner

List of variants studied for agammaglobulinemia by Illumina Clinical Services Laboratory,Illumina

Included ClinVar conditions (31):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 14
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HGVS dbSNP
NM_000061.2(BTK):c.*116A>C rs700
NM_000061.2(BTK):c.*192G>A rs1057403
NM_000061.2(BTK):c.*334T>G rs183674618
NM_000061.2(BTK):c.*342T>G rs781937023
NM_000061.2(BTK):c.-105G>T rs1034801451
NM_000061.2(BTK):c.141+11C>T rs138411530
NM_000061.2(BTK):c.1899C>T (p.Cys633=) rs1135363
NM_000061.2(BTK):c.520+15C>T rs782697907
NM_000061.2(BTK):c.615G>T (p.Glu205Asp) rs35877704
NM_000061.2(BTK):c.852A>G (p.Lys284=) rs1057515724
NM_000061.2(BTK):c.895-10G>A rs370812397
NM_000061.2(BTK):c.954T>C (p.Ser318=) rs5991926
NM_001178098.2(CD19):c.1638del (p.Gly547fs) rs774006181
NM_001287344.1(BTK):c.*334_*335TG[4] rs200445244

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