ClinVar Miner

List of variants reported as likely pathogenic for Hypohidrotic ectodermal dysplasia with immune deficiency

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Total variants: 4
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NM_003639.4(IKBKG):c.185G>A (p.Arg62Gln) rs782604431
NM_003639.4(IKBKG):c.262_264GAG[1] (p.Glu89del) rs386134238
NM_003639.4(IKBKG):c.470A>C (p.Gln157Pro) rs386134240
NM_003639.4(IKBKG):c.931G>A (p.Asp311Asn) rs179363867

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