ClinVar Miner

List of variants in gene IKBKG reported as pathogenic for ectodermal dysplasia and immunodeficiency 1

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 11
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HGVS dbSNP gnomAD frequency
NM_001099857.5(IKBKG):c.185G>A (p.Arg62Gln) rs782604431 0.00011
NG_009896.1:g.19984_24446dup
NM_001099857.5(IKBKG):c.1049dup (p.Ala351fs) rs2148385141
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.458T>G (p.Leu153Arg) rs137853328
NM_001099857.5(IKBKG):c.768+5G>A rs1569556603
NM_001099857.5(IKBKG):c.863C>G (p.Ala288Gly) rs137853330

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