List of variants in gene COL7A1 reported as pathogenic by Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics

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)
		ClinVar version:

Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_000094.4(COL7A1):c.5188C>T (p.Arg1730Ter)	rs746053763	0.00001
NM_000094.4(COL7A1):c.7828C>T (p.Arg2610Ter)	rs1064793916	0.00001
NM_000094.4(COL7A1):c.1319del (p.Glu440fs)	rs1559435706

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