ClinVar Miner

List of variants reported as likely benign for ectodermal dysplasia and immunodeficiency 1 by Victorian Clinical Genetics Services, Murdoch Childrens Research Institute

Included ClinVar conditions (6):

Ectodermal dysplasia and immunodeficiency 1
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

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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_001099857.5(IKBKG):c.337G>A (p.Asp113Asn)	rs179363896	0.00715
NM_001099856.6(IKBKG):c.148C>T (p.Arg50Cys)	rs189237568	0.00052

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