ClinVar Miner

List of variants in gene LRBA reported as likely pathogenic for combined immunodeficiency due to LRBA deficiency

Included ClinVar conditions (1):
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Gene type:
ClinVar version:
Total variants: 37
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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.5906G>C (p.Gly1969Ala) rs745608560 0.00004
NM_001364905.1(LRBA):c.5645+2T>A rs1181595292 0.00001
NM_001364905.1(LRBA):c.5646-2A>T rs1297757024 0.00001
NC_000004.11:g.(?_151604683)_(151604889_?)dup
NM_001364905.1(LRBA):c.1319del (p.Pro440fs)
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
NM_001364905.1(LRBA):c.2166-1G>C rs2127009232
NM_001364905.1(LRBA):c.2197G>T (p.Glu733Ter)
NM_001364905.1(LRBA):c.2259-2A>G rs2127004616
NM_001364905.1(LRBA):c.2449+1G>A
NM_001364905.1(LRBA):c.2449C>T (p.Gln817Ter)
NM_001364905.1(LRBA):c.2767-2A>G rs1350061017
NM_001364905.1(LRBA):c.3076C>T (p.Gln1026Ter) rs1578999313
NM_001364905.1(LRBA):c.4158+1G>C
NM_001364905.1(LRBA):c.4159-1G>T rs1750245794
NM_001364905.1(LRBA):c.4239del (p.Val1414fs) rs2126905499
NM_001364905.1(LRBA):c.4466del (p.Pro1489fs)
NM_001364905.1(LRBA):c.476_549+580del
NM_001364905.1(LRBA):c.4801C>T (p.Arg1601Ter) rs1484948342
NM_001364905.1(LRBA):c.5011dup (p.Ser1671fs)
NM_001364905.1(LRBA):c.5518+2T>C rs532289025
NM_001364905.1(LRBA):c.5519-1G>A rs1302362911
NM_001364905.1(LRBA):c.5645+1G>C
NM_001364905.1(LRBA):c.5755-1G>C
NM_001364905.1(LRBA):c.5921+1G>A
NM_001364905.1(LRBA):c.6194-2A>G
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
NM_001364905.1(LRBA):c.7363-1G>T
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

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