ClinVar Miner

List of variants studied for Epidermolysis bullosa by Clinical Genetics Laboratory, Skane University Hospital Lund

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_000094.4(COL7A1):c.6017G>C (p.Gly2006Ala)
NM_000424.4(KRT5):c.992G>A (p.Arg331His) rs56729325
NM_000526.5(KRT14):c.346_348del (p.Lys116del)

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