ClinVar Miner

List of variants in gene KRT10 reported as likely benign for autosomal dominant epidermolytic ichthyosis

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
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_000421.5(KRT10):c.376G>A (p.Gly126Ser)	rs77919366	0.17640
NM_000421.5(KRT10):c.1749-10A>G
NM_000421.5(KRT10):c.49GGA[9] (p.Gly24dup)	rs148510452

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