ClinVar Miner

List of variants in gene COL7A1 reported as likely pathogenic by Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_000094.4(COL7A1):c.2993-2A>G	rs1553612928
NM_000094.4(COL7A1):c.3139+1G>A	rs1284183246
NM_000094.4(COL7A1):c.7557+1G>T	rs786204774

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