ClinVar Miner

List of variants in gene LRBA reported as not provided for Combined immunodeficiency due to LRBA deficiency

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Gene type:
ClinVar version:
Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_001364905.1(LRBA):c.8024C>T (p.Thr2675Ile) rs202244838 0.00067
NM_001364905.1(LRBA):c.4855G>T (p.Val1619Leu) rs143883830 0.00060
NM_001364905.1(LRBA):c.5293G>A (p.Gly1765Arg) rs368450966 0.00001
NM_001364905.1(LRBA):c.4876_4877delinsTT (p.Ala1626Leu) rs1560877215

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