ClinVar Miner

List of variants reported as likely benign 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: 31
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HGVS dbSNP gnomAD frequency
NM_031892.3(SH3KBP1):c.1266G>A (p.Pro422=) rs2290805 0.04501
NM_003998.4(NFKB1):c.1519A>G (p.Met507Val) rs4648072 0.01884
NM_019594.4(LRRC8A):c.1458C>T (p.Pro486=) rs11999276 0.01838
NM_006846.4(SPINK5):c.2762A>G (p.Asn921Ser) rs73271166 0.01566
NM_203447.4(DOCK8):c.3840+3A>G rs16938572 0.00865
NM_001282933.2(ZNF341):c.340-20C>G rs142373708 0.00712
NM_006846.4(SPINK5):c.802C>T (p.Arg268Cys) rs142558269 0.00581
NM_013314.4(BLNK):c.472G>T (p.Ala158Ser) rs148612299 0.00489
NM_003200.5(TCF3):c.1713G>A (p.Glu571=) rs143212973 0.00394
NM_020661.4(AICDA):c.74G>A (p.Arg25His) rs61730095 0.00289
NM_004356.4(CD81):c.414T>C (p.Asp138=) rs143644902 0.00208
NM_003200.5(TCF3):c.315G>A (p.Arg105=) rs144176765 0.00160
NM_000061.3(BTK):c.615G>T (p.Glu205Asp) rs35877704 0.00114
NM_005026.5(PIK3CD):c.2919C>T (p.Leu973=) rs143168081 0.00114
NM_019594.4(LRRC8A):c.1606G>A (p.Val536Ile) rs138622041 0.00102
NM_001364905.1(LRBA):c.4339+18G>A rs199713609 0.00087
NM_003998.4(NFKB1):c.1601G>A (p.Arg534His) rs150281816 0.00046
NM_003200.5(TCF3):c.1564A>C (p.Lys522Gln) rs201831565 0.00029
NM_001364905.1(LRBA):c.2275A>C (p.Met759Leu) rs191118242 0.00022
NM_004356.4(CD81):c.159C>T (p.Pro53=) rs200365372 0.00021
NM_001364905.1(LRBA):c.2067+11A>G rs185860143 0.00019
NM_003200.5(TCF3):c.823-13C>T rs148835727 0.00019
NM_003200.5(TCF3):c.1948C>A (p.Pro650Thr) rs7252811 0.00013
NM_019594.4(LRRC8A):c.33G>A (p.Ala11=) rs202218761 0.00011
NM_005026.5(PIK3CD):c.2997+10G>A rs377699493 0.00009
NM_000061.3(BTK):c.1103-11C>G rs782217532 0.00005
NM_001006658.3(CR2):c.2156-16A>C rs777216094 0.00003
NM_001006658.3(CR2):c.624C>G (p.Pro208=) rs61759494
NM_001322934.2(NFKB2):c.*76C>T
NM_004356.4(CD81):c.459+4C>T rs116421908
NM_020070.4(IGLL1):c.520_521delinsAT (p.Ala174Met) rs1555903974

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