ClinVar Miner

List of variants studied for common variable immunodeficiency by GenomeConnect, ClinGen

Included ClinVar conditions (23):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_012452.3(TNFRSF13B):c.542C>A (p.Ala181Glu) rs72553883 0.00518
NM_001364905.1(LRBA):c.4855G>T (p.Val1619Leu) rs143883830 0.00060
NM_012452.3(TNFRSF13B):c.260T>A (p.Ile87Asn) rs72553877 0.00034
NM_001322934.2(NFKB2):c.1972C>T (p.Arg658Trp) rs200373995 0.00024

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