ClinVar Miner

List of variants studied for IKBKG-related immunodeficiency with or without ectodermal dysplasia by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

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

Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_001099857.5(IKBKG):c.1056-6=	rs5945206
NM_001099857.5(IKBKG):c.262GAG[1] (p.Glu89del)	rs386134238
NM_001099857.5(IKBKG):c.470A>C (p.Gln157Pro)	rs386134240
NM_001099857.5(IKBKG):c.931G>A (p.Asp311Asn)	rs179363867

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