ClinVar Miner

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

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Total variants: 5
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NM_000094.3(COL7A1):c.1637-1G>A rs886058642
NM_000094.3(COL7A1):c.3942dup (p.Asn1315fs) rs747912732
NM_000094.3(COL7A1):c.5314C>T (p.Arg1772Trp) rs1032335328
NM_000094.4(COL7A1):c.2993-2A>G rs1553612928
NM_000094.4(COL7A1):c.7557+1G>T rs786204774

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