ClinVar Miner

List of variants reported as pathogenic for Recessive dystrophic epidermolysis bullosa by Natera, Inc.

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_000094.4(COL7A1):c.1732C>T (p.Arg578Ter)	rs144023803	0.00002
NM_000094.4(COL7A1):c.1573C>T (p.Arg525Ter)	rs368007918	0.00001
NM_000094.4(COL7A1):c.2005C>T (p.Arg669Ter)	rs780261665	0.00001

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