List of variants in gene COL7A1 reported as pathogenic by Juno Genomics, Hangzhou Juno Genomics, Inc

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: 3

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HGVS	dbSNP	gnomAD frequency
NM_000094.4(COL7A1):c.8038G>A (p.Gly2680Ser)	rs370744140	0.00002
NM_000094.4(COL7A1):c.3432C>G (p.Tyr1144Ter)
NM_000094.4(COL7A1):c.3625_3635del (p.Ser1209fs)	rs1166683325

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