ClinVar Miner

List of variants reported as pathogenic for epidermolysis bullosa simplex 2F, with mottled pigmentation

Included ClinVar conditions (4):

Epidermolysis bullosa simplex with migratory circinate erythema; Epidermolysis bullosa simplex with mottled pigmentation; 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; 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
Epidermolysis bullosa simplex with mottled pigmentation

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Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_000424.4(KRT5):c.1429G>A (p.Glu477Lys)	rs59190510
NM_000424.4(KRT5):c.1649del (p.Gly550fs)	rs61126080
NM_000424.4(KRT5):c.74C>T (p.Pro25Leu)	rs57499817
NM_000424.4(KRT5):c.980T>C (p.Met327Thr)	rs58072617

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