ClinVar Miner

List of variants in gene LRBA reported as uncertain significance by Eurofins NTD LLC (GA)

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Total variants: 26
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HGVS dbSNP gnomAD frequency
NM_001364905.1(LRBA):c.2637G>A (p.Lys879=) rs138956153 0.00170
NM_001364905.1(LRBA):c.2340A>G (p.Thr780=) rs79392371 0.00127
NM_001364905.1(LRBA):c.6887C>A (p.Thr2296Asn) rs151286835 0.00113
NM_001364905.1(LRBA):c.1713C>T (p.His571=) rs145812385 0.00101
NM_001364905.1(LRBA):c.2209G>A (p.Val737Ile) rs151213445 0.00078
NM_001364905.1(LRBA):c.787C>G (p.Leu263Val) rs143625481 0.00076
NM_001364905.1(LRBA):c.8024C>T (p.Thr2675Ile) rs202244838 0.00067
NM_001364905.1(LRBA):c.3407C>T (p.Pro1136Leu) rs113022115 0.00033
NM_001364905.1(LRBA):c.4930C>G (p.Leu1644Val) rs149324157 0.00031
NM_001364905.1(LRBA):c.2050C>T (p.Leu684=) rs149148368 0.00010
NM_001364905.1(LRBA):c.1372G>A (p.Val458Ile) rs765483951 0.00008
NM_001364905.1(LRBA):c.4338A>G (p.Leu1446=) rs201059532 0.00008
NM_001364905.1(LRBA):c.5004G>A (p.Pro1668=) rs775567440 0.00004
NM_001364905.1(LRBA):c.3207C>A (p.Gly1069=) rs762031957 0.00003
NM_001364905.1(LRBA):c.1008T>C (p.Thr336=) rs747214029 0.00002
NM_001364905.1(LRBA):c.1433C>T (p.Pro478Leu) rs896257229 0.00001
NM_001364905.1(LRBA):c.6074G>A (p.Gly2025Glu) rs778545671 0.00001
NM_001364905.1(LRBA):c.7623C>T (p.Asn2541=) rs758608400 0.00001
NM_001364905.1(LRBA):c.1015-9C>A rs765923836
NM_001364905.1(LRBA):c.1802C>T (p.Thr601Ile) rs369623654
NM_001364905.1(LRBA):c.3307G>C (p.Glu1103Gln) rs794727384
NM_001364905.1(LRBA):c.3789C>T (p.Asn1263=) rs150689413
NM_001364905.1(LRBA):c.549+6A>C rs199594598
NM_001364905.1(LRBA):c.6046+1900T>G rs886042789
NM_001364905.1(LRBA):c.6322G>A (p.Asp2108Asn) rs142598024
NM_001364905.1(LRBA):c.7316A>G (p.Glu2439Gly) rs752621759

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