ClinVar Miner

List of variants in gene KRT14 reported as pathogenic 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

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)
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Total variants: 8

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HGVS	dbSNP	gnomAD frequency
NM_000526.5(KRT14):c.1242_1259del (p.Tyr415_Glu420del)	rs2144582186
NM_000526.5(KRT14):c.1246del (p.Arg416fs)	rs58357841
NM_000526.5(KRT14):c.1256T>A (p.Leu419Gln)	rs57364972
NM_000526.5(KRT14):c.356T>C (p.Met119Thr)	rs28928893
NM_000526.5(KRT14):c.368A>G (p.Asn123Ser)	rs60171927
NM_000526.5(KRT14):c.373C>T (p.Arg125Cys)	rs60399023
NM_000526.5(KRT14):c.374G>A (p.Arg125His)	rs58330629
NM_000526.5(KRT14):c.915G>A (p.Trp305Ter)	rs60090257

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