ClinVar Miner

List of variants in gene LRBA reported as pathogenic for hematologic disorder

Included ClinVar conditions (819):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 83
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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.(?_151388805)_(151392911_?)del
NC_000004.11:g.(?_151604683)_(151604889_?)del
NC_000004.11:g.(?_151682915)_(151719314_?)del
NC_000004.11:g.(?_151719213)_(151749793_?)del
NC_000004.11:g.(?_151769950)_(151793927_?)del
NC_000004.11:g.(?_151792477)_(151793927_?)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.5580+1G>A
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)

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