ClinVar Miner

List of variants studied for B cell deficiency by Mayo Clinic Laboratories, Mayo Clinic

Included ClinVar conditions (66):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_000061.3(BTK):c.141+11C>T rs138411530 0.00620
NM_001364905.1(LRBA):c.7564A>C (p.Thr2522Pro) rs62346982 0.00470
NM_001364905.1(LRBA):c.1399A>G (p.Met467Val) rs116355217 0.00225
NM_020070.4(IGLL1):c.437C>T (p.Thr146Met) rs112775194 0.00100
NM_001364905.1(LRBA):c.7687C>T (p.Leu2563Phe) rs202014892

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