ClinVar Miner

List of variants in gene combination IRF8, LOC130059663 reported as likely benign for Immunodeficiency 32B; Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency

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Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_002163.4(IRF8):c.312C>T (p.Ser104=) rs541779534 0.00012
NM_002163.4(IRF8):c.358+18G>A rs200617822 0.00005
NM_002163.4(IRF8):c.315G>A (p.Glu105=)
NM_002163.4(IRF8):c.358+16G>C
NM_002163.4(IRF8):c.358+7A>T
NM_002163.4(IRF8):c.358+9C>T

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