List of variants in gene COL7A1 reported as pathogenic by Revvity Omics, Revvity

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: 9

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HGVS	dbSNP	gnomAD frequency
NM_000094.4(COL7A1):c.8440C>T (p.Arg2814Ter)	rs143457874	0.00003
NM_000094.4(COL7A1):c.1837C>T (p.Arg613Ter)	rs759634066	0.00001
NM_000094.4(COL7A1):c.4448G>A (p.Gly1483Asp)	rs756217590	0.00001
NM_000094.4(COL7A1):c.4894C>T (p.Arg1632Ter)	rs751535193	0.00001
NM_000094.4(COL7A1):c.5287C>T (p.Arg1763Ter)	rs1360704374	0.00001
NM_000094.4(COL7A1):c.3840del (p.Gly1281fs)	rs757688782
NM_000094.4(COL7A1):c.7787del (p.Gly2596fs)	rs759990189
NM_000094.4(COL7A1):c.8302C>T (p.Gln2768Ter)	rs2107631757
NM_000094.4(COL7A1):c.8329C>T (p.Arg2777Ter)	rs886039330

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