ClinVar Miner

List of variants reported as uncertain significance for IKBKG-related immunodeficiency with or without ectodermal dysplasia

Included ClinVar conditions (7):

Ectodermal dysplasia and immunodeficiency 1
Immunodeficiency 33
Immunodeficiency 33; Anhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome; Ectodermal dysplasia and immunodeficiency 1; Incontinentia pigmenti syndrome
Immunodeficiency 33; Ectodermal dysplasia and immunodeficiency 1
Immunodeficiency 33; Ectodermal dysplasia and immunodeficiency 1; Incontinentia pigmenti syndrome
Immunodeficiency 33; Ectodermal dysplasia and immunodeficiency 1; Incontinentia pigmenti syndrome; Autoinflammatory disease, X-linked
Immunodeficiency 33; Ectodermal dysplasia and immunodeficiency 1; Incontinentia pigmenti syndrome; Immunodeficiency 47

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)

Total variants: 6

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HGVS	dbSNP	gnomAD frequency
NM_001099857.5(IKBKG):c.185G>A (p.Arg62Gln)	rs782604431	0.00011
NM_001321396.3(IKBKG):c.-16+3G>A	rs782367664	0.00003
NM_001099857.5(IKBKG):c.1056-6=	rs5945206
NM_001099857.5(IKBKG):c.1056-6C>T
NM_001099857.5(IKBKG):c.399+6C>T	rs1557236080
NM_001099857.5(IKBKG):c.760C>G (p.Arg254Gly)	rs2148383298

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