ClinVar Miner

List of variants in gene COL7A1 reported as pathogenic for Transient bullous dermolysis of the newborn

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Total variants: 5
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NM_000094.3(COL7A1):c.3840del (p.Gly1281fs) rs757688782
NM_000094.3(COL7A1):c.4120-1G>C rs1299648939
NM_000094.3(COL7A1):c.4556G>A (p.Gly1519Asp) rs121912835
NM_000094.3(COL7A1):c.4565G>A (p.Gly1522Glu) rs387906605
NM_000094.3(COL7A1):c.6752G>A (p.Gly2251Glu) rs121912834

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