List of variants in gene IKBKG reported as pathogenic for ectodermal dysplasia syndrome

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 26

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HGVS	dbSNP	gnomAD frequency
NM_001099857.5(IKBKG):c.185G>A (p.Arg62Gln)	rs782604431	0.00011
IKBKG, 2-BP DEL, 1182TT
NG_009896.1:g.19984_24446dup
NM_001099857.5(IKBKG):c.1049dup (p.Ala351fs)	rs2148385141
NM_001099857.5(IKBKG):c.1110dup (p.Ala371fs)	rs1569556615
NM_001099857.5(IKBKG):c.1117+1G>A	rs2071161458
NM_001099857.5(IKBKG):c.1117+5G>C	rs1557236796
NM_001099857.5(IKBKG):c.1166_1178dup (p.Asp394fs)	rs2071167272
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.120_129dup (p.Glu44fs)	rs2070949441
NM_001099857.5(IKBKG):c.1217A>T (p.Asp406Val)	rs137853327
NM_001099857.5(IKBKG):c.1219A>G (p.Met407Val)	rs137853322
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.1259A>G (p.Ter420Trp)	rs137853321
NM_001099857.5(IKBKG):c.184C>T (p.Arg62Ter)	rs137853323
NM_001099857.5(IKBKG):c.358C>T (p.Gln120Ter)	rs2071063100
NM_001099857.5(IKBKG):c.373del (p.Val125fs)
NM_001099857.5(IKBKG):c.458T>G (p.Leu153Arg)	rs137853328
NM_001099857.5(IKBKG):c.518+866C>T	rs2071101767
NM_001099857.5(IKBKG):c.519-3_519dup	rs1557236445
NM_001099857.5(IKBKG):c.706C>T (p.Gln236Ter)	rs2071133474
NM_001099857.5(IKBKG):c.768+5G>A	rs1569556603
NM_001099857.5(IKBKG):c.863C>G (p.Ala288Gly)	rs137853330

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