List of variants reported as pathogenic for Severe combined immunodeficiency due to IKK2 deficiency

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Total variants: 18

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HGVS	dbSNP	gnomAD frequency
NC_000008.10:g.(?_42146132)_(42146266_?)del
NM_001556.3(IKBKB):c.1292dup (p.Gln432fs)	rs886041036
NM_001556.3(IKBKB):c.1392C>A (p.Cys464Ter)	rs745492616
NM_001556.3(IKBKB):c.1429C>T (p.Gln477Ter)	rs2487692827
NM_001556.3(IKBKB):c.1609del (p.Arg536_Met537insTer)	rs2487713743
NM_001556.3(IKBKB):c.163C>T (p.Arg55Ter)	rs1190950389
NM_001556.3(IKBKB):c.1696C>T (p.Gln566Ter)	rs2487731363
NM_001556.3(IKBKB):c.1705G>T (p.Glu569Ter)	rs2130681529
NM_001556.3(IKBKB):c.1731dup (p.Pro578fs)	rs2130681744
NM_001556.3(IKBKB):c.1735C>T (p.Arg579Ter)	rs1819856886
NM_001556.3(IKBKB):c.1762C>T (p.Gln588Ter)	rs2487734648
NM_001556.3(IKBKB):c.1847_1848del (p.Val616fs)	rs2487739397
NM_001556.3(IKBKB):c.1927_1928del (p.Val643fs)	rs1205793780
NM_001556.3(IKBKB):c.2116del (p.Glu706fs)	rs2487810076
NM_001556.3(IKBKB):c.25del (p.Thr9fs)	rs2129978037
NM_001556.3(IKBKB):c.607G>A (p.Val203Ile)	rs1563340753
NM_001556.3(IKBKB):c.814C>T (p.Arg272Ter)	rs200296680
NM_001556.3(IKBKB):c.856C>T (p.Arg286Ter)	rs1818665697

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