List of variants reported as pathogenic for Immunodeficiency 47

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Total variants: 10

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HGVS	dbSNP	gnomAD frequency
NM_001183.6(ATP6AP1):c.1036G>A (p.Glu346Lys)	rs878853277
NM_001183.6(ATP6AP1):c.1284G>A (p.Met428Ile)	rs878853275
NM_001183.6(ATP6AP1):c.221T>C (p.Leu74Pro)	rs2068680774
NM_001183.6(ATP6AP1):c.289-233C>T	rs2523016325
NM_001183.6(ATP6AP1):c.289-289G>A	rs2523016265
NM_001183.6(ATP6AP1):c.431T>C (p.Leu144Pro)	rs878853276
NM_001183.6(ATP6AP1):c.542T>G (p.Leu181Arg)	rs1557196978
NM_001183.6(ATP6AP1):c.649T>A (p.Tyr217Asn)	rs2068705545
NM_001183.6(ATP6AP1):c.932T>A (p.Leu311Gln)	rs1603384499
NM_001183.6(ATP6AP1):c.938A>G (p.Tyr313Cys)	rs878853278

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