ClinVar Miner

List of variants in gene LRBA reported as likely pathogenic by Invitae

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Gene type:
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Total variants: 18
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HGVS dbSNP gnomAD frequency
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.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.2259-2A>G rs2127004616
NM_001364905.1(LRBA):c.2449+1G>A
NM_001364905.1(LRBA):c.2767-2A>G rs1350061017
NM_001364905.1(LRBA):c.4159-1G>T rs1750245794
NM_001364905.1(LRBA):c.476_549+580del
NM_001364905.1(LRBA):c.5518+2T>C rs532289025
NM_001364905.1(LRBA):c.5519-1G>A rs1302362911
NM_001364905.1(LRBA):c.5755-1G>C
NM_001364905.1(LRBA):c.6194-2A>G
NM_001364905.1(LRBA):c.6551+1G>T
NM_001364905.1(LRBA):c.7363-1G>T

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