ClinVar Miner

List of variants reported as benign for 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 by Fulgent Genetics, Fulgent Genetics

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Total variants: 5
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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_000526.5(KRT14):c.1237G>A (p.Ala413Thr) rs59780231 0.01556

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