List of variants reported as pathogenic for Epidermolytic hyperkeratosis 1

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Total variants: 7

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HGVS	dbSNP	gnomAD frequency
NM_000421.5(KRT10):c.1315A>G (p.Lys439Glu)	rs61434181
NM_000421.5(KRT10):c.467G>A (p.Arg156His)	rs58075662
NM_006121.4(KRT1):c.1432G>C (p.Glu478Gln)	rs59089201
NM_006121.4(KRT1):c.1433A>G (p.Glu478Gly)	rs2121000699
NM_006121.4(KRT1):c.559C>T (p.Leu187Phe)	rs59151464
NM_006121.4(KRT1):c.560T>C (p.Leu187Pro)	rs2498637710
NM_006121.4(KRT1):c.591+1G>C	rs267607422

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