List of variants in gene COL7A1 reported as pathogenic by CeGaT Center for Human Genetics Tuebingen

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.6501+1G>C	rs759644973	0.00003
NM_000094.4(COL7A1):c.3840del (p.Gly1281fs)	rs757688782
NM_000094.4(COL7A1):c.5656C>T (p.Gln1886Ter)	rs2044329211
NM_000094.4(COL7A1):c.6082G>A (p.Gly2028Arg)	rs762162799
NM_000094.4(COL7A1):c.6128G>A (p.Gly2043Glu)	rs2107674192
NM_000094.4(COL7A1):c.6718delinsGA (p.Pro2240fs)
NM_000094.4(COL7A1):c.846+2T>G

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