ClinVar Miner

List of variants reported as likely pathogenic for epidermolytic ichthyosis by Neuberg Centre For Genomic Medicine, NCGM

Included ClinVar conditions (13):

Annular epidermolytic ichthyosis
Autosomal dominant epidermolytic ichthyosis
Congenital reticular ichthyosiform erythroderma; Ichthyosis hystrix gravior; Ichthyosis, annular epidermolytic 1; Epidermolytic hyperkeratosis 1
Congenital reticular ichthyosiform erythroderma; Ichthyosis hystrix gravior; Ichthyosis, annular epidermolytic 1; Epidermolytic hyperkeratosis 2A, autosomal dominant; Epidermolytic hyperkeratosis 2B, autosomal recessive
Epidermolytic hyperkeratosis 1
Epidermolytic hyperkeratosis 2A, autosomal dominant
Epidermolytic hyperkeratosis 2B, autosomal recessive
Epidermolytic ichthyosis
Epidermolytic ichthyosis; Congenital reticular ichthyosiform erythroderma; Annular epidermolytic ichthyosis
Epidermolytic ichthyosis; Epidermal nevus; Ichthyosis; Abnormality of the thyroid gland
Epidermolytic ichthyosis; Ichthyosis hystrix of Curth-Macklin; Diffuse nonepidermolytic palmoplantar keratoderma; Annular epidermolytic ichthyosis; Keratosis palmoplantaris striata 3; Palmoplantar keratoderma, epidermolytic
Ichthyosis, annular epidermolytic 1
Ichthyosis, annular epidermolytic, 2

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Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_006121.4(KRT1):c.1436T>C (p.Ile479Thr)	rs57837128
NM_006121.4(KRT1):c.563A>G (p.Asn188Ser)	rs58928370

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