List of variants in gene COL7A1 reported as likely pathogenic for Recessive dystrophic epidermolysis bullosa

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 11

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HGVS	dbSNP
NC_000003.12:g.48584060del
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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