ClinVar Miner

List of variants in gene KRT5 studied for Epidermolysis bullosa simplex with mottled pigmentation

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Gene type:
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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_000424.4(KRT5):c.1649del (p.Gly550fs) rs61126080
NM_000424.4(KRT5):c.527A>G (p.Asn176Ser) rs59092197
NM_000424.4(KRT5):c.74C>T (p.Pro25Leu) rs57499817

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