ClinVar Miner

List of variants reported as uncertain significance for common variable immunodeficiency by New York Genome Center

Included ClinVar conditions (23):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_001364905.1(LRBA):c.2674G>A (p.Ala892Thr) rs151098394 0.00465
NM_001006658.3(CR2):c.1140G>A (p.Met380Ile) rs147638245 0.00116
NM_012452.3(TNFRSF13B):c.604C>T (p.Arg202Cys) rs143562358 0.00036
NM_012452.3(TNFRSF13B):c.58C>T (p.Arg20Cys) rs200013015 0.00012
NM_006060.6(IKZF1):c.1076C>T (p.Pro359Leu) rs752909152 0.00007
NM_001006658.3(CR2):c.2975A>G (p.Tyr992Cys) rs1658485394
NM_001364905.1(LRBA):c.4111G>A (p.Ala1371Thr) rs761120687
NM_001364905.1(LRBA):c.6331-14021C>T rs2152122101
NM_006060.6(IKZF1):c.161-15019A>G rs1805227150
NM_012452.3(TNFRSF13B):c.788C>T (p.Thr263Ile) rs986325158

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