ClinVar Miner

List of variants reported as not provided for B cell deficiency

Included ClinVar conditions (64):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 37
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HGVS dbSNP gnomAD frequency
NM_012452.3(TNFRSF13B):c.542C>A (p.Ala181Glu) rs72553883 0.00518
NM_012452.3(TNFRSF13B):c.310T>C (p.Cys104Arg) rs34557412 0.00403
NM_080911.3(UNG):c.262C>T (p.Arg88Cys) rs151095402 0.00090
NM_001364905.1(LRBA):c.8024C>T (p.Thr2675Ile) rs202244838 0.00067
NM_001364905.1(LRBA):c.4855G>T (p.Val1619Leu) rs143883830 0.00060
NM_012452.3(TNFRSF13B):c.260T>A (p.Ile87Asn) rs72553877 0.00034
NM_203447.4(DOCK8):c.5828C>T (p.Thr1943Ile) rs148368084 0.00025
NM_001322934.2(NFKB2):c.1972C>T (p.Arg658Trp) rs200373995 0.00024
NM_203447.4(DOCK8):c.4774T>C (p.Phe1592Leu) rs200152962 0.00012
NM_006846.4(SPINK5):c.3113C>A (p.Thr1038Lys) rs370311628 0.00011
NM_203447.4(DOCK8):c.2383G>C (p.Val795Leu) rs369449324 0.00007
NM_020070.4(IGLL1):c.221G>A (p.Arg74His) rs368706509 0.00005
NM_005026.5(PIK3CD):c.2347+6G>A rs368607726 0.00004
NM_203447.4(DOCK8):c.2971-5C>T rs373718659 0.00004
NM_001364905.1(LRBA):c.5293G>A (p.Gly1765Arg) rs368450966 0.00001
NM_139276.3(STAT3):c.1268G>A (p.Arg423Gln) rs113994137 0.00001
NM_181523.3(PIK3R1):c.536T>C (p.Val179Ala) rs771949848 0.00001
NM_203447.4(DOCK8):c.1441G>A (p.Asp481Asn) rs374938180 0.00001
NC_000014.9:g.105854468A>C rs267606871
NC_000014.9:g.105855107C>T rs281865422
NM_000074.3(CD40LG):c.31C>T (p.Arg11Ter) rs193922135
NM_000074.3(CD40LG):c.761C>T (p.Thr254Met) rs193922136
NM_000565.4(IL6R):c.992T>C (p.Met331Thr)
NM_001364905.1(LRBA):c.4876_4877delinsTT (p.Ala1626Leu) rs1560877215
NM_003153.5(STAT6):c.1144G>C (p.Glu382Gln)
NM_003153.5(STAT6):c.1255G>C (p.Asp419His)
NM_003153.5(STAT6):c.1255G>T (p.Asp419Tyr)
NM_003153.5(STAT6):c.1256A>G (p.Asp419Gly)
NM_003153.5(STAT6):c.1555G>C (p.Asp519His)
NM_006846.4(SPINK5):c.964G>A (p.Asp322Asn) rs1561686908
NM_020070.4(IGLL1):c.258del (p.Gln88fs) rs532338576
NM_139276.3(STAT3):c.1144C>T (p.Arg382Trp) rs113994135
NM_139276.3(STAT3):c.1145G>A (p.Arg382Gln) rs113994136
NM_139276.3(STAT3):c.1250G>T (p.Arg417Ile) rs2144767285
NM_139276.3(STAT3):c.1384GTG[1] (p.Val463del) rs113994138
NM_139276.3(STAT3):c.1909G>A (p.Val637Met) rs113994139
NM_139276.3(STAT3):c.875C>G (p.Ser292Cys) rs1598415625

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