ClinVar Miner

List of variants in gene COL7A1 reported as uncertain significance by Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein

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: 2

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HGVS	dbSNP	gnomAD frequency
NM_000094.4(COL7A1):c.2016G>C (p.Glu672Asp)	rs754341326	0.00001
NM_000094.4(COL7A1):c.5077A>G (p.Lys1693Glu)	rs2107704760

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