ClinVar Miner

List of variants in gene COL7A1 reported as likely pathogenic by Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota

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Total variants: 4
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HGVS dbSNP
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.6017G>A (p.Gly2006Asp) rs121912842
NM_000094.4(COL7A1):c.6501G>A rs767539005

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