ClinVar Miner

List of variants reported as uncertain significance for B cell deficiency by Fulgent Genetics, Fulgent Genetics

Included ClinVar conditions (64):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 51
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HGVS dbSNP gnomAD frequency
NM_001364905.1(LRBA):c.2209G>A (p.Val737Ile) rs151213445 0.00078
NM_203447.4(DOCK8):c.3312G>C (p.Glu1104Asp) rs138810908 0.00054
NM_001250.6(CD40):c.*178G>A rs565941222 0.00051
NM_001282933.2(ZNF341):c.2560G>A (p.Glu854Lys) rs145996048 0.00044
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_005026.5(PIK3CD):c.598G>A (p.Glu200Lys) rs141200414 0.00028
NM_012452.3(TNFRSF13B):c.641T>C (p.Met214Thr) rs144560464 0.00025
NM_001783.4(CD79A):c.134G>C (p.Ser45Thr) rs199603062 0.00024
NM_000626.4(CD79B):c.250G>A (p.Glu84Lys) rs373082402 0.00015
NM_203447.4(DOCK8):c.1623C>G (p.His541Gln) rs200201944 0.00015
NM_001364905.1(LRBA):c.4947T>A (p.Asn1649Lys) rs200578734 0.00013
NM_203447.4(DOCK8):c.3031C>T (p.Arg1011Cys) rs535305490 0.00013
NM_001364905.1(LRBA):c.5941C>T (p.Arg1981Cys) rs148699393 0.00012
NM_003200.5(TCF3):c.1430G>A (p.Arg477Gln) rs199957863 0.00012
NM_005026.5(PIK3CD):c.1513G>A (p.Glu505Lys) rs545136223 0.00012
NM_003998.4(NFKB1):c.1126G>A (p.Gly376Ser) rs150233754 0.00011
NM_181523.3(PIK3R1):c.716C>T (p.Thr239Met) rs141981005 0.00011
NM_012452.3(TNFRSF13B):c.706G>T (p.Glu236Ter) rs201021960 0.00010
NM_203447.4(DOCK8):c.476C>T (p.Pro159Leu) rs537605467 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_003200.5(TCF3):c.1541C>T (p.Ser514Leu) rs372168347 0.00006
NM_006846.4(SPINK5):c.2167C>T (p.Arg723Trp) rs369782107 0.00006
NM_001006658.3(CR2):c.3244_3245del (p.Val1082fs) rs775594743 0.00005
NM_020070.4(IGLL1):c.118C>T (p.Arg40Cys) rs199529532 0.00005
NM_001364905.1(LRBA):c.637A>G (p.Ser213Gly) rs538370042 0.00004
NM_006846.4(SPINK5):c.1540C>A (p.His514Asn) rs189170702 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_005026.5(PIK3CD):c.1242G>A (p.Ala414=) rs758253493 0.00003
NM_012452.3(TNFRSF13B):c.693C>G (p.Ser231Arg) rs145711865 0.00003
NM_013314.4(BLNK):c.275C>A (p.Ala92Asp) rs201576692 0.00003
NM_181523.3(PIK3R1):c.961G>A (p.Gly321Ser) rs142439210 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_001783.4(CD79A):c.535G>A (p.Gly179Arg) rs782714583 0.00002
NM_000061.3(BTK):c.1475G>A (p.Arg492His) rs782338603 0.00001
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_003200.5(TCF3):c.1327-3C>A rs369551101 0.00001
NM_005026.5(PIK3CD):c.1955+5C>T rs201785210 0.00001
NM_080911.3(UNG):c.371A>G (p.His124Arg) rs1035623046 0.00001
NM_005026.5(PIK3CD):c.1339+4G>A rs751591906
NM_012452.3(TNFRSF13B):c.53A>G (p.Glu18Gly) rs1597672265
NM_020070.4(IGLL1):c.421del (p.Tyr141fs) rs765603007
NM_080911.3(UNG):c.544A>G (p.Ile182Val) rs545691651
NM_203447.4(DOCK8):c.2T>C (p.Met1Thr) rs760902978

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