ClinVar Miner

List of variants studied for Bruton-type agammaglobulinemia by Illumina Laboratory Services, Illumina

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 21
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HGVS dbSNP gnomAD frequency
NM_000061.3(BTK):c.1899C>T (p.Cys633=) rs1135363 0.37760
NM_000061.3(BTK):c.*116A>C rs700 0.35507
NM_000061.3(BTK):c.*192G>A rs1057403 0.32006
NM_000061.3(BTK):c.*334T>G rs183674618 0.02721
NM_000061.3(BTK):c.954T>C (p.Ser318=) rs5991926 0.01964
NM_000061.3(BTK):c.141+11C>T rs138411530 0.00620
NM_000061.3(BTK):c.*221G>T rs1122765 0.00340
NM_000061.3(BTK):c.615G>T (p.Glu205Asp) rs35877704 0.00114
NM_000061.3(BTK):c.1909-9T>C rs782702231 0.00029
NM_000061.3(BTK):c.-105G>T rs1034801451 0.00028
NM_000061.3(BTK):c.*390G>A rs782012349 0.00011
NM_000061.3(BTK):c.895-10G>A rs370812397 0.00010
NM_000061.3(BTK):c.*342T>G rs781937023 0.00009
NM_000061.3(BTK):c.1977C>T (p.Ser659=) rs782047787 0.00007
NM_000061.3(BTK):c.100G>A (p.Val34Met) rs141488935 0.00001
NM_000061.3(BTK):c.852A>G (p.Lys284=) rs1057515724 0.00001
NM_000061.3(BTK):c.*334TG[4] rs200445244
NM_000061.3(BTK):c.-87C>T rs1927601892
NM_000061.3(BTK):c.1355T>C (p.Leu452Pro) rs2147427580
NM_000061.3(BTK):c.520+15C>T rs782697907
NM_000061.3(BTK):c.777-1G>A rs1603007942

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