ClinVar Miner

List of variants in gene BTK reported as uncertain significance for B cell deficiency

Included ClinVar conditions (64):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 14
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HGVS dbSNP gnomAD frequency
NM_000061.3(BTK):c.141+11C>T rs138411530 0.00620
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.*342T>G rs781937023 0.00009
NM_000061.3(BTK):c.1977C>T (p.Ser659=) rs782047787 0.00007
NM_000061.3(BTK):c.720A>C (p.Glu240Asp) rs141590686 0.00006
NM_000061.3(BTK):c.100G>A (p.Val34Met) rs141488935 0.00001
NM_000061.3(BTK):c.1475G>A (p.Arg492His) rs782338603 0.00001
NM_000061.3(BTK):c.852A>G (p.Lys284=) rs1057515724 0.00001
NM_000061.3(BTK):c.-87C>T rs1927601892
NM_000061.3(BTK):c.1690T>C (p.Ser564Pro) rs2147424985
NM_000061.3(BTK):c.1787T>C (p.Met596Thr)
NM_000061.3(BTK):c.1900T>C (p.Trp634Arg)
NM_000061.3(BTK):c.777-3C>G rs193922130

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