List of variants reported as pathogenic for IKBKG-related immunodeficiency with or without ectodermal dysplasia by OMIM

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Total variants: 20

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HGVS	dbSNP	gnomAD frequency
NM_001099857.5(IKBKG):c.337G>A (p.Asp113Asn)	rs179363896	0.00715
NM_001099857.5(IKBKG):c.169G>A (p.Glu57Lys)	rs148695964	0.00158
NG_009896.1:g.19984_24446dup
NM_001099857.5(IKBKG):c.-16+344G>C	rs2070806148
NM_001099857.5(IKBKG):c.1049dup (p.Ala351fs)	rs2148385141
NM_001099857.5(IKBKG):c.1056-1G>A	rs2148385355
NM_001099857.5(IKBKG):c.111dup (p.Met38fs)	rs1569556522
NM_001099857.5(IKBKG):c.1167dup (p.Glu390fs)	rs782178147
NM_001099857.5(IKBKG):c.1171G>T (p.Glu391Ter)	rs137853324
NM_001099857.5(IKBKG):c.1207C>T (p.Gln403Ter)	rs137853329
NM_001099857.5(IKBKG):c.1249T>C (p.Cys417Arg)	rs137853325
NM_001099857.5(IKBKG):c.1250G>T (p.Cys417Phe)	rs137853326
NM_001099857.5(IKBKG):c.239T>C (p.Leu80Pro)	rs2071059718
NM_001099857.5(IKBKG):c.458T>G (p.Leu153Arg)	rs137853328
NM_001099857.5(IKBKG):c.517C>G (p.Arg173Gly)	rs179363866
NM_001099857.5(IKBKG):c.768+5G>A	rs1569556603
NM_001099857.5(IKBKG):c.811_828del (p.Glu271_Ala276del)	rs2071141016
NM_001099857.5(IKBKG):c.863C>G (p.Ala288Gly)	rs137853330
NM_001099857.5(IKBKG):c.944A>C (p.Glu315Ala)	rs137853331
NM_001099857.5(IKBKG):c.956G>A (p.Arg319Gln)	rs137853332

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