List of variants in gene COL7A1 reported as not provided by GeneReviews

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: 7

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HGVS	dbSNP	gnomAD frequency
NM_000094.4(COL7A1):c.1732C>T (p.Arg578Ter)	rs144023803	0.00002
NM_000094.4(COL7A1):c.497dup (p.Val168fs)	rs766902987	0.00002
NM_000094.4(COL7A1):c.2471dup (p.Asn825fs)	rs746056280
NM_000094.4(COL7A1):c.3840del (p.Gly1281fs)	rs757688782
NM_000094.4(COL7A1):c.4919del (p.Gly1640fs)	rs1057517722
NM_000094.4(COL7A1):c.6100G>A (p.Gly2034Arg)	rs121912844
NM_000094.4(COL7A1):c.6127G>A (p.Gly2043Arg)	rs121912836

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