ClinVar Miner

List of variants reported as likely benign for common variable immunodeficiency by ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

Included ClinVar conditions (23):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 21
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HGVS dbSNP gnomAD frequency
NM_052945.4(TNFRSF13C):c.62C>G (p.Pro21Arg) rs77874543 0.05538
NM_004356.4(CD81):c.648+10C>T rs34510250 0.00724
NM_052945.4(TNFRSF13C):c.191G>T (p.Gly64Val) rs547352394 0.00722
NM_001770.6(CD19):c.381G>A (p.Ser127=) rs142342927 0.00523
NM_001322934.2(NFKB2):c.21+13G>A rs199513883 0.00288
NM_012092.4(ICOS):c.451G>C (p.Val151Leu) rs76778263 0.00226
NM_003998.4(NFKB1):c.1845G>T (p.Leu615Phe) rs149211506 0.00208
NM_052945.4(TNFRSF13C):c.317G>A (p.Arg106Gln) rs150374940 0.00202
NM_052945.4(TNFRSF13C):c.102C>T (p.Ala34=) rs567541615 0.00147
NM_001364905.1(LRBA):c.4591T>G (p.Phe1531Val) rs114610541 0.00131
NM_001322934.2(NFKB2):c.2145G>A (p.Ser715=) rs200006038 0.00128
NM_001364905.1(LRBA):c.2340A>G (p.Thr780=) rs79392371 0.00127
NM_001322934.2(NFKB2):c.1288C>T (p.Pro430Ser) rs202001697 0.00125
NM_001364905.1(LRBA):c.3423C>T (p.Ala1141=) rs141442145 0.00015
NM_001770.6(CD19):c.390T>A (p.Gly130=) rs573154781 0.00014
NM_001364905.1(LRBA):c.4416G>A (p.Leu1472=) rs746401908 0.00006
NM_001364905.1(LRBA):c.1219T>C (p.Leu407=) rs190586278 0.00005
NM_003998.4(NFKB1):c.2227+18C>T rs375361337
NM_006060.6(IKZF1):c.825G>A (p.Lys275=) rs1064796324
NM_012092.4(ICOS):c.395-19A>G
NM_182972.3(IRF2BP2):c.928C>T (p.Leu310=) rs1672238574

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