ClinVar Miner

List of variants in gene LRBA reported as likely pathogenic for agammaglobulinemia

Included ClinVar conditions (46):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 56
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HGVS dbSNP gnomAD frequency
NM_001364905.1(LRBA):c.7879T>C (p.Trp2627Arg) rs200295901 0.00009
NM_001364905.1(LRBA):c.5518+2T>C rs532289025 0.00004
NM_001364905.1(LRBA):c.5906G>C (p.Gly1969Ala) rs745608560 0.00003
NM_001364905.1(LRBA):c.1933C>T (p.Arg645Ter) rs368167203 0.00001
NM_001364905.1(LRBA):c.2449C>T (p.Gln817Ter) rs1345661967 0.00001
NM_001364905.1(LRBA):c.5645+2T>A rs1181595292 0.00001
NM_001364905.1(LRBA):c.7766G>A (p.Cys2589Tyr) rs544856639 0.00001
NC_000004.11:g.(?_151223757)_(151271331_?)dup
NC_000004.11:g.(?_151509219)_(151514947_?)del
NC_000004.11:g.(?_151604683)_(151604889_?)dup
NC_000004.11:g.(?_151738256)_(151738429_?)dup
NM_001364905.1(LRBA):c.1319del (p.Pro440fs) rs2546646309
NM_001364905.1(LRBA):c.1602+2T>C
NM_001364905.1(LRBA):c.1923_1924+11del rs755373718
NM_001364905.1(LRBA):c.1924+2T>A rs1730552437
NM_001364905.1(LRBA):c.216+1G>C rs2546907359
NM_001364905.1(LRBA):c.2166-1G>C rs2127009232
NM_001364905.1(LRBA):c.217-1G>A
NM_001364905.1(LRBA):c.2197G>T (p.Glu733Ter) rs2546559508
NM_001364905.1(LRBA):c.2259-2A>G rs2127004616
NM_001364905.1(LRBA):c.2449+1G>A rs2546552538
NM_001364905.1(LRBA):c.2767-2A>G rs1350061017
NM_001364905.1(LRBA):c.3076C>T (p.Gln1026Ter) rs1578999313
NM_001364905.1(LRBA):c.3661_3662dup (p.Thr1222fs)
NM_001364905.1(LRBA):c.3985_3986del (p.Asp1329fs)
NM_001364905.1(LRBA):c.4086_4087del (p.Gln1363fs)
NM_001364905.1(LRBA):c.4139C>G (p.Ser1380Ter) rs1353022856
NM_001364905.1(LRBA):c.4158+1G>C rs2546490347
NM_001364905.1(LRBA):c.4159-1G>T rs1750245794
NM_001364905.1(LRBA):c.4239del (p.Val1414fs) rs2126905499
NM_001364905.1(LRBA):c.4300_4301del (p.Met1434fs)
NM_001364905.1(LRBA):c.4466del (p.Pro1489fs) rs1439160668
NM_001364905.1(LRBA):c.4759_4762del (p.Thr1587fs) rs747652653
NM_001364905.1(LRBA):c.476_549+580del rs2546693049
NM_001364905.1(LRBA):c.4801C>T (p.Arg1601Ter) rs1484948342
NM_001364905.1(LRBA):c.4947dup (p.Lys1650Ter)
NM_001364905.1(LRBA):c.5011dup (p.Ser1671fs) rs2546422057
NM_001364905.1(LRBA):c.5519-1G>A rs1302362911
NM_001364905.1(LRBA):c.5629del (p.Val1878fs)
NM_001364905.1(LRBA):c.5645+1G>C rs2547368576
NM_001364905.1(LRBA):c.5755-1G>C rs2547165271
NM_001364905.1(LRBA):c.5921+1G>A rs2547164192
NM_001364905.1(LRBA):c.6046+1890A>T
NM_001364905.1(LRBA):c.6194-2A>G rs1404249010
NM_001364905.1(LRBA):c.6331-2A>G rs2152104087
NM_001364905.1(LRBA):c.6447_6448del (p.Arg2149fs) rs1561254290
NM_001364905.1(LRBA):c.6551+1G>T rs2546534919
NM_001364905.1(LRBA):c.6624_6625del (p.Glu2208fs) rs727503779
NM_001364905.1(LRBA):c.7194+1G>T
NM_001364905.1(LRBA):c.7363-1G>T rs2545893731
NM_001364905.1(LRBA):c.7490_7491del (p.Val2497fs)
NM_001364905.1(LRBA):c.7836_7840del (p.Ser2613fs) rs1580974401
NM_001364905.1(LRBA):c.7850-1G>A rs1729842757
NM_001364905.1(LRBA):c.8142_8145dup (p.Asn2716fs) rs1264504989
NM_001364905.1(LRBA):c.863del (p.His288fs) rs2149489382
NM_001364905.1(LRBA):c.928C>T (p.Arg310Ter) rs1170974293

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