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

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Total variants: 8

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HGVS	dbSNP	gnomAD frequency
NM_000094.4(COL7A1):c.266+2T>C	rs561997536	0.00013
NM_000094.4(COL7A1):c.8393T>A (p.Met2798Lys)	rs121912828	0.00001
NM_000094.4(COL7A1):c.2308_2314+1del
NM_000094.4(COL7A1):c.2858-1G>A	rs2531234929
NM_000094.4(COL7A1):c.4039G>T (p.Gly1347Trp)	rs121912833
NM_000094.4(COL7A1):c.6574-2A>G
NM_000094.4(COL7A1):c.7097G>C (p.Gly2366Ala)	rs2043899331
NM_000094.4(COL7A1):c.7723G>T (p.Gly2575Trp)	rs760891216

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