ClinVar Miner

List of variants reported as benign for epidermolysis bullosa simplex 1A, generalized severe

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: 6

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HGVS	dbSNP	gnomAD frequency
NM_000526.5(KRT14):c.188G>A (p.Cys63Tyr)	rs6503640	0.99456
NM_000526.5(KRT14):c.193C>T (p.Leu65=)	rs3826551	0.58145
NM_000526.5(KRT14):c.189C>T (p.Cys63=)	rs11551758	0.56357
NM_000526.5(KRT14):c.369T>C (p.Asn123=)	rs3826549	0.56333
NM_000424.4(KRT5):c.594C>A (p.Thr198=)	rs641621	0.22738
NM_000526.5(KRT14):c.1237G>A (p.Ala413Thr)	rs59780231	0.01556

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