List of variants in gene COL7A1 reported as pathogenic by Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen

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: 11

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HGVS	dbSNP	gnomAD frequency
NM_000094.4(COL7A1):c.425A>G (p.Lys142Arg)	rs121912856	0.00009
NM_000094.4(COL7A1):c.8440C>T (p.Arg2814Ter)	rs143457874	0.00003
NM_000094.4(COL7A1):c.8065G>A (p.Gly2689Arg)	rs748940147	0.00002
NM_000094.4(COL7A1):c.7957G>A (p.Gly2653Arg)	rs121912851	0.00001
NM_000094.4(COL7A1):c.8138G>A (p.Gly2713Asp)	rs369591910	0.00001
NM_000094.4(COL7A1):c.2044C>T (p.Arg682Ter)	rs1262422383
NM_000094.4(COL7A1):c.4039G>C (p.Gly1347Arg)	rs121912833
NM_000094.4(COL7A1):c.6100G>A (p.Gly2034Arg)	rs121912844
NM_000094.4(COL7A1):c.6127G>A (p.Gly2043Arg)	rs121912836
NM_000094.4(COL7A1):c.6859G>A (p.Gly2287Arg)	rs121912839
NM_000094.4(COL7A1):c.7875+1G>C	rs2107637140

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