ClinVar Miner

List of variants reported as likely benign for epidermolytic ichthyosis

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

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)
		ClinVar version:

Total variants: 4

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000421.5(KRT10):c.376G>A (p.Gly126Ser)	rs77919366	0.17714
NM_000421.5(KRT10):c.1749-10A>G	rs373397541	0.00017
NM_006121.4(KRT1):c.1475+14G>A	rs369324638	0.00006
NM_000421.5(KRT10):c.49GGA[9] (p.Gly24dup)	rs148510452

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.