ClinVar Miner

List of variants reported as likely pathogenic for Recessive dystrophic epidermolysis bullosa

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Total variants: 11
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NM_000094.3(COL7A1):c.3265C>T (p.Gln1089Ter) rs1553612617
NM_000094.3(COL7A1):c.3504del (p.Pro1168_Leu1169insTer) rs730880286
NM_000094.3(COL7A1):c.4980+1G>C rs730880285
NM_000094.3(COL7A1):c.5605G>C (p.Gly1869Arg) rs1057517724
NM_000094.3(COL7A1):c.5783G>A (p.Gly1928Glu) rs1560219171
NM_000094.3(COL7A1):c.682+1G>A rs775288140
NM_000094.3(COL7A1):c.8371C>T (p.Arg2791Trp) rs142566193
NM_000094.4(COL7A1):c.6501G>A rs767539005
NM_000094.4(COL7A1):c.7768G>C (p.Gly2590Arg)
NM_000094.4(COL7A1):c.8541del (p.Glu2848fs)

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