ClinVar Miner

List of variants reported as likely pathogenic for Common variable immunodeficiency 8, with autoimmunity

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Total variants: 12
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HGVS dbSNP
NM_001364905.1(LRBA):c.1923_1924+11del
NM_001364905.1(LRBA):c.1924+2T>A
NM_001364905.1(LRBA):c.2166-1G>C
NM_001364905.1(LRBA):c.3076C>T (p.Gln1026Ter) rs1578999313
NM_001364905.1(LRBA):c.5519-1G>A
NM_001364905.1(LRBA):c.5645+2T>A rs1181595292
NM_001364905.1(LRBA):c.5906G>C (p.Gly1969Ala) rs745608560
NM_001364905.1(LRBA):c.6447_6448del (p.Arg2149fs) rs1561254290
NM_001364905.1(LRBA):c.7836_7840del (p.Ser2613fs) rs1580974401
NM_001364905.1(LRBA):c.7850-1G>A
NM_001364905.1(LRBA):c.7879T>C (p.Trp2627Arg) rs200295901
NM_001364905.1(LRBA):c.8142_8145dup (p.Asn2716fs) rs1264504989

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