List of variants reported as likely pathogenic for Immunodeficiency, common variable, 12

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Total variants: 17

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HGVS	dbSNP	gnomAD frequency
NM_003998.4(NFKB1):c.482C>T (p.Ala161Val)	rs1354534120	0.00001
GRCh37/hg19 4q24(chr4:102851823-104641864)
NM_003998.4(NFKB1):c.1075G>T (p.Glu359Ter)
NM_003998.4(NFKB1):c.1210+1G>A	rs2149203552
NM_003998.4(NFKB1):c.1752+1G>A	rs1560711146
NM_003998.4(NFKB1):c.1753-1G>T
NM_003998.4(NFKB1):c.2227+1G>A	rs2149222635
NM_003998.4(NFKB1):c.2240del (p.Leu747fs)
NM_003998.4(NFKB1):c.2353-1G>A
NM_003998.4(NFKB1):c.2671del (p.Ala891fs)	rs1728635624
NM_003998.4(NFKB1):c.317dup (p.Asn106fs)	rs1560679469
NM_003998.4(NFKB1):c.407+1G>A	rs1723945421
NM_003998.4(NFKB1):c.730+4A>G	rs869320688
NM_003998.4(NFKB1):c.904dup (p.Ser302fs)	rs773694113
NM_003998.4(NFKB1):c.927+2T>C
NM_003998.4(NFKB1):c.988G>A (p.Val330Met)	rs2149192634
NM_003998.4:c.(927+1_928-1)_(1066+1_1067-1)del

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