ClinVar Miner

List of variants in gene KRT10 reported as likely pathogenic 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
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_000421.5(KRT10):c.1304T>G (p.Leu435Arg)
NM_000421.5(KRT10):c.1307T>C (p.Leu436Pro)
NM_000421.5(KRT10):c.1374-1G>A	rs2143131560
NM_000421.5(KRT10):c.470T>G (p.Leu157Arg)	rs2143150768
NM_000421.5(KRT10):c.546T>A (p.Tyr182Ter)	rs1597822243

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