ClinVar Miner

List of variants studied 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: 68
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001770.6(CD19):c.520C>G (p.Leu174Val) rs2904880 0.76211
NM_004356.4(CD81):c.597C>T (p.Ser199=) rs14077 0.07917
NM_052945.4(TNFRSF13C):c.62C>G (p.Pro21Arg) rs77874543 0.05538
NM_001322934.2(NFKB2):c.2467-9T>A rs11574853 0.05268
NM_152866.3(MS4A1):c.216C>T (p.Ile72=) rs2070770 0.05151
NM_001770.6(CD19):c.1541G>A (p.Arg514His) rs34763945 0.04099
NM_006060.6(IKZF1):c.161-8328C>A rs76112582 0.03410
NM_182972.3(IRF2BP2):c.75C>T (p.Pro25=) rs76362154 0.02638
NM_001364905.1(LRBA):c.6781-3C>T rs58873298 0.02593
NM_001364905.1(LRBA):c.2634T>G (p.Pro878=) rs17027154 0.02479
NM_001364905.1(LRBA):c.7630+10G>C rs57901153 0.02351
NM_003998.4(NFKB1):c.1755G>A (p.Thr585=) rs4648093 0.02322
NM_012092.4(ICOS):c.150A>G (p.Gln50=) rs55972840 0.02252
NM_012092.4(ICOS):c.501+7G>A rs57149344 0.02252
NM_182972.3(IRF2BP2):c.352C>T (p.Pro118Ser) rs148187914 0.02203
NM_001364905.1(LRBA):c.5989C>T (p.Arg1997Cys) rs35879351 0.02129
NM_001364905.1(LRBA):c.4485C>T (p.Gly1495=) rs11735845 0.02120
NM_001364905.1(LRBA):c.2170A>G (p.Ile724Val) rs72719663 0.01896
NM_003998.4(NFKB1):c.1519A>G (p.Met507Val) rs4648072 0.01884
NM_003998.4(NFKB1):c.1050C>T (p.Tyr350=) rs4648039 0.01547
NM_001770.6(CD19):c.1486+18T>A rs150575329 0.01255
NM_052945.4(TNFRSF13C):c.229C>T (p.Leu77=) rs140820836 0.01159
NM_001322934.2(NFKB2):c.2239C>T (p.Leu747=) rs11191279 0.01026
NM_001364905.1(LRBA):c.3689G>A (p.Gly1230Asp) rs34708681 0.00859
NM_001364905.1(LRBA):c.5100G>T (p.Leu1700=) rs61741557 0.00815
NM_001364905.1(LRBA):c.5171+20G>A rs116225517 0.00791
NM_004356.4(CD81):c.648+10C>T rs34510250 0.00724
NM_052945.4(TNFRSF13C):c.191G>T (p.Gly64Val) rs547352394 0.00722
NM_052945.4(TNFRSF13C):c.475C>T (p.His159Tyr) rs61756766 0.00573
NM_001770.6(CD19):c.381G>A (p.Ser127=) rs142342927 0.00523
NM_001364905.1(LRBA):c.7564A>C (p.Thr2522Pro) rs62346982 0.00470
NM_001322934.2(NFKB2):c.40G>A (p.Glu14Lys) rs45581936 0.00433
NM_001364905.1(LRBA):c.2526T>C (p.Phe842=) rs139428189 0.00376
NM_012092.4(ICOS):c.58+9T>G rs140049646 0.00348
NM_001322934.2(NFKB2):c.21+13G>A rs199513883 0.00288
NM_001364905.1(LRBA):c.6448+17A>G rs183652080 0.00274
NM_052945.4(TNFRSF13C):c.60C>T (p.Val20=) rs373828157 0.00260
NM_012092.4(ICOS):c.451G>C (p.Val151Leu) rs76778263 0.00226
NM_001364905.1(LRBA):c.1399A>G (p.Met467Val) rs116355217 0.00225
NM_001322934.2(NFKB2):c.1962C>T (p.Val654=) rs201623844 0.00221
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_001770.6(CD19):c.395T>G (p.Leu132Arg) rs146795664 0.00093
NM_001322934.2(NFKB2):c.921G>A (p.Leu307=) rs146926941 0.00064
NM_001364905.1(LRBA):c.3751A>G (p.Thr1251Ala) rs143973442 0.00034
NM_001364905.1(LRBA):c.3423C>T (p.Ala1141=) rs141442145 0.00015
NM_001322934.2(NFKB2):c.243+20G>C rs371813362 0.00014
NM_001770.6(CD19):c.390T>A (p.Gly130=) rs573154781 0.00014
NM_152866.3(MS4A1):c.194C>T (p.Ala65Val) rs146626926 0.00013
NM_001364905.1(LRBA):c.4416G>A (p.Leu1472=) rs746401908 0.00006
NM_182972.3(IRF2BP2):c.1180A>C (p.Thr394Pro) rs138385624 0.00006
NM_001364905.1(LRBA):c.1219T>C (p.Leu407=) rs190586278 0.00005
NM_001322934.2(NFKB2):c.2564del (p.Lys855fs) rs397514331
NM_001770.6(CD19):c.1198+2T>G rs1596718225
NM_003998.4(NFKB1):c.1976C>T (p.Ala659Val) rs969568429
NM_003998.4(NFKB1):c.2227+18C>T rs375361337
NM_003998.4(NFKB1):c.2460G>C (p.Leu820=) rs4648109
NM_006060.6(IKZF1):c.825G>A (p.Lys275=) rs1064796324
NM_006060.6(IKZF1):c.863T>G (p.Leu288Arg)
NM_012092.4(ICOS):c.395-19A>G
NM_182972.3(IRF2BP2):c.-4G>C
NM_182972.3(IRF2BP2):c.281AGC[6] (p.Gln98dup) rs371994015
NM_182972.3(IRF2BP2):c.928C>T (p.Leu310=) rs1672238574

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.