ClinVar Miner

List of variants studied for immunodeficiency, common variable, 1 by Pediatric Infectious Diseases and Immunodeficiencies Unit (UPIIP)- HUVH-VHIR, Vall d'Hebron University Hospital

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_001099857.5(IKBKG):c.169G>A (p.Glu57Lys) rs148695964 0.00158
NM_000061.3(BTK):c.1252T>C (p.Tyr418His) rs144079566 0.00029
NM_012452.3(TNFRSF13B):c.61+2T>A rs760885614 0.00001
NM_000061.3(BTK):c.1787T>C (p.Met596Thr)
NM_000074.3(CD40LG):c.288+1G>A rs1569376229

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