ClinVar Miner

List of variants in gene LRBA reported as likely pathogenic by CeGaT Center for Human Genetics Tuebingen

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Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_001364905.1(LRBA):c.6607C>T (p.Arg2203Ter) rs1206185362 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.6079C>T (p.Gln2027Ter) rs2126458818
NM_001364905.1(LRBA):c.7849+2T>C rs1553996145

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