List of variants in gene COL7A1 reported as uncertain significance by Breakthrough Genomics, Breakthrough Genomics

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: 9

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HGVS	dbSNP	gnomAD frequency
NM_000094.4(COL7A1):c.4987C>A (p.Pro1663Thr)	rs149342284	0.00019
NM_000094.4(COL7A1):c.5086C>T (p.Arg1696Cys)	rs2229820	0.00016
NM_000094.4(COL7A1):c.5986A>G (p.Ile1996Val)	rs771271966	0.00011
NM_000094.4(COL7A1):c.1324C>T (p.Arg442Cys)	rs142108058	0.00005
NM_000094.4(COL7A1):c.1370C>T (p.Pro457Leu)	rs200396882	0.00003
NM_000094.4(COL7A1):c.2169C>T (p.His723=)	rs147643230	0.00002
NM_000094.4(COL7A1):c.7192G>A (p.Gly2398Ser)	rs755361003	0.00001
NM_000094.4(COL7A1):c.580TTC[5] (p.Phe197dup)	rs543646523
NM_000094.4(COL7A1):c.6270T>A (p.Pro2090=)	rs2044195363

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