ClinVar Miner

List of variants reported as likely benign for epidermolysis bullosa simplex 1A, generalized severe by Fulgent Genetics, Fulgent Genetics

Included ClinVar conditions (5):

Epidermolysis bullosa simplex 1A, generalized severe
Epidermolysis bullosa simplex 1A, generalized severe; Dermatopathia pigmentosa reticularis; Epidermolysis bullosa simplex 1D, generalized, intermediate or severe, autosomal recessive; Epidermolysis bullosa simplex, Koebner type; Epidermolysis bullosa simplex 1C, localized; Naegeli-Franceschetti-Jadassohn syndrome
Epidermolysis bullosa simplex 1A, generalized severe; Epidermolysis bullosa simplex, Koebner type
Epidermolysis bullosa simplex with migratory circinate erythema; Epidermolysis bullosa simplex with mottled pigmentation; Epidermolysis bullosa simplex 1A, generalized severe; Dowling-Degos disease 1; Epidermolysis bullosa simplex 2A, generalized severe; Epidermolysis bullosa simplex 2B, generalized intermediate; Epidermolysis bullosa simplex 2C, localized; Epidermolysis bullosa simplex 2d, generalized, intermediate or severe, autosomal recessive
Epidermolysis bullosa simplex with migratory circinate erythema; Epidermolysis bullosa simplex with mottled pigmentation; Epidermolysis bullosa simplex 1A, generalized severe; Epidermolysis bullosa simplex 1D, generalized, intermediate or severe, autosomal recessive; Epidermolysis bullosa simplex, Koebner type; Epidermolysis bullosa simplex 1C, localized; Dowling-Degos disease 1

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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_000526.5(KRT14):c.166C>T (p.Arg56Cys)	rs117484558	0.00519
NM_000424.4(KRT5):c.110G>A (p.Arg37Gln)	rs61747181	0.00018

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