ClinVar Miner

List of variants studied for ichthyosis, annular epidermolytic 1 by Neuberg Centre For Genomic Medicine, NCGM

Included ClinVar conditions (5):

Annular 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; Ichthyosis hystrix of Curth-Macklin; Diffuse nonepidermolytic palmoplantar keratoderma; Annular epidermolytic ichthyosis; Keratosis palmoplantaris striata 3; Palmoplantar keratoderma, epidermolytic
Ichthyosis, annular epidermolytic 1

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_006121.4(KRT1):c.1436T>C (p.Ile479Thr)	rs57837128
NM_006121.4(KRT1):c.1847G>A (p.Arg616Gln)

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