ClinVar Miner

List of variants reported as likely pathogenic for Recessive dystrophic epidermolysis bullosa by Knight Diagnostic Laboratories, Oregon Health and Sciences University

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Total variants: 1
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HGVS dbSNP gnomAD frequency
NM_000094.4(COL7A1):c.8371C>T (p.Arg2791Trp) rs142566193 0.00109

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