ClinVar Miner

List of variants studied for IKBKG-related immunodeficiency with or without ectodermal dysplasia

Included ClinVar conditions (7):
Minimum submission review status: Collection method:
Minimum conflict level:
Total variants: 34
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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
NM_001099856.6(IKBKG):c.148C>T (p.Arg50Cys) rs189237568 0.00076
NM_001099857.5(IKBKG):c.185G>A (p.Arg62Gln) rs782604431 0.00011
NM_001321396.3(IKBKG):c.-16+3G>A rs782367664 0.00003
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.1056-6= rs5945206
NM_001099857.5(IKBKG):c.1056-6C>T
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.1217A>T (p.Asp406Val) rs137853327
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.151C>T (p.Leu51Phe)
NM_001099857.5(IKBKG):c.239T>C (p.Leu80Pro) rs2071059718
NM_001099857.5(IKBKG):c.262GAG[1] (p.Glu89del) rs386134238
NM_001099857.5(IKBKG):c.399+6C>T rs1557236080
NM_001099857.5(IKBKG):c.41_56dup (p.Pro20fs) rs2148368738
NM_001099857.5(IKBKG):c.458T>G (p.Leu153Arg) rs137853328
NM_001099857.5(IKBKG):c.470A>C (p.Gln157Pro) rs386134240
NM_001099857.5(IKBKG):c.517C>G (p.Arg173Gly) rs179363866
NM_001099857.5(IKBKG):c.760C>G (p.Arg254Gly) rs2148383298
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.931G>A (p.Asp311Asn) rs179363867
NM_001099857.5(IKBKG):c.944A>C (p.Glu315Ala) rs137853331
NM_001099857.5(IKBKG):c.956G>A (p.Arg319Gln) rs137853332
Single allele

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