ClinVar Miner

List of variants studied for autosomal dominant epidermolytic ichthyosis by Baylor Genetics

Included ClinVar conditions (9):

Annular epidermolytic ichthyosis
Epidermolytic hyperkeratosis 2A, autosomal dominant
Epidermolytic ichthyosis
Epidermolytic ichthyosis; Congenital reticular ichthyosiform erythroderma; Annular epidermolytic ichthyosis
Epidermolytic ichthyosis; Congenital reticular ichthyosiform erythroderma; Ichthyosis hystrix gravior; Ichthyosis, annular epidermolytic 1
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
		ClinVar version:

Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_000421.5(KRT10):c.98C>T (p.Ser33Phe)	rs151149062	0.00019
NM_006121.4(KRT1):c.564C>A (p.Asn188Lys)	rs59429455

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