ClinVar Miner

List of variants studied for B cell deficiency by Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota

Included ClinVar conditions (66):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_000074.3(CD40LG):c.107T>G (p.Met36Arg) rs104894774
NM_003998.4(NFKB1):c.1752+1G>A rs1560711146
NM_003998.4(NFKB1):c.317dup (p.Asn106fs) rs1560679469
NM_139276.3(STAT3):c.1144C>T (p.Arg382Trp) rs113994135

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