ClinVar Miner

List of variants in gene LRBA reported as pathogenic for B cell deficiency

Included ClinVar conditions (64):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 77
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001364905.1(LRBA):c.1897C>T (p.Arg633Ter) rs770266168 0.00003
NM_001364905.1(LRBA):c.5980C>T (p.Arg1994Ter) rs760342862 0.00001
NM_001364905.1(LRBA):c.6607C>T (p.Arg2203Ter) rs1206185362 0.00001
NM_001364905.1(LRBA):c.7009C>T (p.Arg2337Ter) rs1268711491 0.00001
NM_001364905.1(LRBA):c.7381C>T (p.Arg2461Ter) rs1004337827 0.00001
GRCh37/hg19 4q31.3(chr4:151622552-151657380)
NC_000004.11:g.(?_151604683)_(151604889_?)del
NC_000004.11:g.(?_151814184)_(151814321_?)del
NC_000004.12:g.(?_150683531)_(150761867_?)del
NC_000004.12:g.(?_150735238)_(150735386_?)del
NC_000004.12:g.(?_150761763)_(150761867_?)del
NC_000004.12:g.(?_150893032)_(150897838_?)del
NM_001364905.1(LRBA):c.1661_1662insGATA (p.Tyr554Ter)
NM_001364905.1(LRBA):c.1697del (p.Lys566fs) rs2127154885
NM_001364905.1(LRBA):c.1736G>A (p.Trp579Ter) rs2127154743
NM_001364905.1(LRBA):c.175G>T (p.Glu59Ter) rs199469664
NM_001364905.1(LRBA):c.1931dup (p.Arg645fs) rs745453685
NM_001364905.1(LRBA):c.1933C>T (p.Arg645Ter)
NM_001364905.1(LRBA):c.1963C>T (p.Arg655Ter) rs199750191
NM_001364905.1(LRBA):c.2032C>T (p.Gln678Ter) rs727503780
NM_001364905.1(LRBA):c.205_206del (p.Val69fs) rs1745202896
NM_001364905.1(LRBA):c.2204_2205dup (p.Arg736fs)
NM_001364905.1(LRBA):c.2240T>A (p.Leu747Ter)
NM_001364905.1(LRBA):c.2449C>T (p.Gln817Ter)
NM_001364905.1(LRBA):c.2559_2560del (p.Ser853fs)
NM_001364905.1(LRBA):c.2563_2564delinsTG (p.Glu855Ter) rs1560938296
NM_001364905.1(LRBA):c.2614del (p.Ser872fs) rs2126988253
NM_001364905.1(LRBA):c.2625T>A (p.Tyr875Ter)
NM_001364905.1(LRBA):c.2717G>A (p.Trp906Ter)
NM_001364905.1(LRBA):c.2722_2738del (p.Gly908fs)
NM_001364905.1(LRBA):c.2736G>A (p.Trp912Ter)
NM_001364905.1(LRBA):c.2836_2839del (p.Glu945_Glu946insTer) rs777413769
NM_001364905.1(LRBA):c.2963del (p.Asn988fs) rs1750760771
NM_001364905.1(LRBA):c.3048T>G (p.Tyr1016Ter)
NM_001364905.1(LRBA):c.3076C>T (p.Gln1026Ter) rs1578999313
NM_001364905.1(LRBA):c.3156del (p.Asp1053fs)
NM_001364905.1(LRBA):c.3286_3287del (p.Phe1096fs) rs1750723817
NM_001364905.1(LRBA):c.345dup (p.Ala116fs)
NM_001364905.1(LRBA):c.3461_3464del (p.Leu1154fs)
NM_001364905.1(LRBA):c.3487_3488del (p.Val1162_Thr1163insTer) rs1750701604
NM_001364905.1(LRBA):c.3811C>T (p.Arg1271Ter) rs1560914625
NM_001364905.1(LRBA):c.3830C>G (p.Ser1277Ter) rs1319094744
NM_001364905.1(LRBA):c.3989_3990dup (p.Gln1331fs)
NM_001364905.1(LRBA):c.4261A>G (p.Ser1421Gly) rs2126905382
NM_001364905.1(LRBA):c.448+1G>T rs1032290659
NM_001364905.1(LRBA):c.4750dup (p.Ser1584fs)
NM_001364905.1(LRBA):c.4801C>T (p.Arg1601Ter) rs1484948342
NM_001364905.1(LRBA):c.488del (p.Asn163fs) rs2149508349
NM_001364905.1(LRBA):c.4_16dup (p.Asn6delinsSerTer) rs1554020278
NM_001364905.1(LRBA):c.5024del (p.Asn1675fs)
NM_001364905.1(LRBA):c.5047C>T (p.Arg1683Ter) rs199469662
NM_001364905.1(LRBA):c.5060_5067del (p.Asn1687fs) rs2126810852
NM_001364905.1(LRBA):c.5125_5152dup (p.Gln1718delinsArgTer) rs2126810458
NM_001364905.1(LRBA):c.5231dup (p.Pro1745fs)
NM_001364905.1(LRBA):c.5254del (p.Val1752fs)
NM_001364905.1(LRBA):c.534del (p.Asp179fs) rs2149508258
NM_001364905.1(LRBA):c.5586G>A (p.Trp1862Ter)
NM_001364905.1(LRBA):c.5903G>A (p.Trp1968Ter)
NM_001364905.1(LRBA):c.6234_6238delinsTTTT (p.Ser2079fs) rs1772348297
NM_001364905.1(LRBA):c.6235del (p.Ser2079fs) rs1051619342
NM_001364905.1(LRBA):c.6269_6270delinsAA (p.Ser2090Ter) rs2126438478
NM_001364905.1(LRBA):c.6319del (p.Ile2107fs) rs34237929
NM_001364905.1(LRBA):c.6551+1del rs1320366310
NM_001364905.1(LRBA):c.6624_6625del (p.Glu2208fs) rs727503779
NM_001364905.1(LRBA):c.6709del (p.Trp2237fs) rs1581401865
NM_001364905.1(LRBA):c.6909G>A (p.Trp2303Ter) rs2151995373
NM_001364905.1(LRBA):c.6979C>T (p.Arg2327Ter)
NM_001364905.1(LRBA):c.7007G>A (p.Trp2336Ter) rs1581303476
NM_001364905.1(LRBA):c.7282C>T (p.Arg2428Ter)
NM_001364905.1(LRBA):c.7405C>T (p.Gln2469Ter)
NM_001364905.1(LRBA):c.7928del (p.Asn2643fs) rs2126848251
NM_001364905.1(LRBA):c.7937T>G (p.Ile2646Ser) rs199469663
NM_001364905.1(LRBA):c.8107_8110del (p.Ser2703fs)
NM_001364905.1(LRBA):c.8205dup (p.Gln2736fs)
NM_001364905.1(LRBA):c.8332C>T (p.Arg2778Ter) rs1580875488
NM_001364905.1(LRBA):c.893del (p.Lys298fs) rs2149489346
NM_001364905.1(LRBA):c.928C>T (p.Arg310Ter)

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.