List of variants in gene COL7A1 reported as pathogenic by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

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: 13

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HGVS	dbSNP	gnomAD frequency
NM_000094.4(COL7A1):c.5820G>A (p.Pro1940=)	rs200972872	0.00010
NM_000094.4(COL7A1):c.6501G>A (p.Pro2167=)	rs767539005	0.00006
NM_000094.4(COL7A1):c.7864C>T (p.Arg2622Trp)	rs139318843	0.00005
NM_000094.4(COL7A1):c.5047C>T (p.Arg1683Ter)	rs760063197	0.00001
NM_000094.4(COL7A1):c.7723G>A (p.Gly2575Arg)	rs760891216	0.00001
NM_000094.4(COL7A1):c.8053C>T (p.Arg2685Ter)	rs2043645754	0.00001
NM_000094.4(COL7A1):c.4588C>T (p.Gln1530Ter)	rs2107718927
NM_000094.4(COL7A1):c.4965C>T (p.Gly1655=)	rs1560232515
NM_000094.4(COL7A1):c.5772+1del	rs1295547257
NM_000094.4(COL7A1):c.5797C>T (p.Arg1933Ter)	rs757415879
NM_000094.4(COL7A1):c.6127G>A (p.Gly2043Arg)	rs121912836
NM_000094.4(COL7A1):c.6527dup (p.Gly2177fs)	rs768128088
NM_000094.4(COL7A1):c.7474C>T (p.Arg2492Ter)	rs765529435

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