ClinVar Miner

List of variants in gene LRBA reported as likely pathogenic for not provided

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Total variants: 16
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HGVS dbSNP gnomAD frequency
NM_001364905.1(LRBA):c.6607C>T (p.Arg2203Ter) rs1206185362 0.00001
NM_001364905.1(LRBA):c.7381C>T (p.Arg2461Ter) rs1004337827 0.00001
GRCh37/hg19 4q31.3(chr4:151186874-151186964)x1
GRCh37/hg19 4q31.3(chr4:151199005-151199156)x1
GRCh37/hg19 4q31.3(chr4:151203602-151203798)x1
GRCh37/hg19 4q31.3(chr4:151207085-151207186)x1
NM_001364905.1(LRBA):c.1691del (p.Leu564fs) rs2127154945
NM_001364905.1(LRBA):c.2258+2T>G rs1579059727
NM_001364905.1(LRBA):c.459del (p.Asp154fs) rs2149508421
NM_001364905.1(LRBA):c.4801C>T (p.Arg1601Ter) rs1484948342
NM_001364905.1(LRBA):c.5424_5434del (p.Ala1808_Pro1809insTer) rs1553965868
NM_001364905.1(LRBA):c.5519-1G>A rs1302362911
NM_001364905.1(LRBA):c.5617_5620del (p.Ala1873fs) rs1553956151
NM_001364905.1(LRBA):c.6079C>T (p.Gln2027Ter) rs2126458818
NM_001364905.1(LRBA):c.7389dup (p.Gly2464fs)
NM_001364905.1(LRBA):c.7849+2T>C rs1553996145

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