ClinVar Miner

List of variants reported as likely pathogenic for Epidermolysis bullosa dystrophica by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_000094.4(COL7A1):c.3831+1G>A
NM_000094.4(COL7A1):c.4900-1G>A	rs2107710536
NM_000094.4(COL7A1):c.7580G>A (p.Gly2527Glu)

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