ClinVar Miner

List of variants reported as likely pathogenic for Mycobacterial and viral infections, susceptibility to, autosomal recessive; Immunodeficiency 31C; Immunodeficiency 31a

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Total variants: 5
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HGVS dbSNP
NM_007315.3(STAT1):c.1162A>C (p.Lys388Gln) rs1559011859
NM_007315.3(STAT1):c.820C>G (p.Arg274Gly) rs387906758
NM_007315.3(STAT1):c.866A>G (p.Tyr289Cys) rs1553496850
NM_007315.3(STAT1):c.876C>A (p.Asp292Glu) rs1085307649
NM_007315.3(STAT1):c.970T>C (p.Cys324Arg)

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