ClinVar Miner

List of variants reported as uncertain significance for common variable immunodeficiency by Fulgent Genetics, Fulgent Genetics

Included ClinVar conditions (23):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 23
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HGVS dbSNP gnomAD frequency
NM_001364905.1(LRBA):c.2209G>A (p.Val737Ile) rs151213445 0.00078
NM_001006658.3(CR2):c.1210C>G (p.Pro404Ala) rs148388565 0.00036
NM_152866.3(MS4A1):c.352A>C (p.Ile118Leu) rs201245387 0.00036
NM_001006658.3(CR2):c.3047C>T (p.Ser1016Leu) rs138062179 0.00034
NM_001364905.1(LRBA):c.3751A>G (p.Thr1251Ala) rs143973442 0.00034
NM_012452.3(TNFRSF13B):c.641T>C (p.Met214Thr) rs144560464 0.00025
NM_001364905.1(LRBA):c.4947T>A (p.Asn1649Lys) rs200578734 0.00013
NM_001364905.1(LRBA):c.5941C>T (p.Arg1981Cys) rs148699393 0.00012
NM_003998.4(NFKB1):c.1126G>A (p.Gly376Ser) rs150233754 0.00011
NM_012452.3(TNFRSF13B):c.706G>T (p.Glu236Ter) rs201021960 0.00010
NM_001006658.3(CR2):c.249A>C (p.Glu83Asp) rs749360324 0.00007
NM_001364905.1(LRBA):c.4513A>G (p.Arg1505Gly) rs140925698 0.00007
NM_001770.6(CD19):c.1035G>C (p.Gln345His) rs533120247 0.00006
NM_001006658.3(CR2):c.3244_3245del (p.Val1082fs) rs775594743 0.00005
NM_001364905.1(LRBA):c.637A>G (p.Ser213Gly) rs538370042 0.00004
NM_012452.3(TNFRSF13B):c.214C>T (p.Arg72Cys) rs375514495 0.00004
NM_001006658.3(CR2):c.80C>T (p.Pro27Leu) rs150906379 0.00003
NM_012452.3(TNFRSF13B):c.693C>G (p.Ser231Arg) rs145711865 0.00003
NM_001364905.1(LRBA):c.5942G>A (p.Arg1981His) rs780262611 0.00002
NM_001364905.1(LRBA):c.7637A>G (p.Gln2546Arg) rs769697590 0.00002
NM_001364905.1(LRBA):c.3691A>G (p.Ser1231Gly) rs749012995 0.00001
NM_001364905.1(LRBA):c.5084T>C (p.Val1695Ala) rs200935054 0.00001
NM_012452.3(TNFRSF13B):c.53A>G (p.Glu18Gly) rs1597672265

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