List of variants studied for agammaglobulinemia 2, autosomal recessive by ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

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Total variants: 12

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HGVS	dbSNP	gnomAD frequency
NM_020070.4(IGLL1):c.549C>T (p.Pro183=)	rs75088277	0.02804
NM_020070.4(IGLL1):c.276C>T (p.Asn92=)	rs116275804	0.02588
NM_020070.4(IGLL1):c.464C>T (p.Pro155Leu)	rs145176864	0.02290
NM_020070.4(IGLL1):c.507C>T (p.Ser169=)	rs74519217	0.02030
NM_020070.4(IGLL1):c.512A>G (p.Asn171Ser)	rs1064421	0.00740
NM_020070.4(IGLL1):c.309G>A (p.Gln103=)	rs114285337	0.00642
NM_020070.4(IGLL1):c.616A>T (p.Thr206Ser)	rs139491925	0.00106
NM_020070.4(IGLL1):c.437C>T (p.Thr146Met)	rs112775194	0.00100
NM_020070.4(IGLL1):c.284C>A (p.Thr95Lys)	rs116041505
NM_020070.4(IGLL1):c.300C>T (p.Ser100=)	rs115303391
NM_020070.4(IGLL1):c.485T>A (p.Met162Lys)	rs111903752
NM_020070.4(IGLL1):c.97G>A (p.Val33Met)	rs116760479

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