List of variants in gene COL7A1 reported as likely 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: 4

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HGVS	dbSNP	gnomAD frequency
NM_000094.4(COL7A1):c.3831+1G>T	rs776841521	0.00001
NM_000094.4(COL7A1):c.7865G>A (p.Arg2622Gln)	rs368529673	0.00001
NM_000094.4(COL7A1):c.6530G>A (p.Gly2177Asp)	rs2530932127
NM_000094.4(COL7A1):c.7521+1G>A	rs1560200657

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