List of variants in gene COL7A1 reported as likely pathogenic by Natera, 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: 12

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HGVS	dbSNP	gnomAD frequency
NM_000094.4(COL7A1):c.6005G>A (p.Arg2002His)	rs768326843	0.00005
NM_000094.4(COL7A1):c.5440C>T (p.Arg1814Cys)	rs778035441	0.00002
NM_000094.4(COL7A1):c.7104+1G>A	rs772756089	0.00002
NM_000094.4(COL7A1):c.3831+1G>T	rs776841521	0.00001
NM_000094.4(COL7A1):c.7957G>A (p.Gly2653Arg)	rs121912851	0.00001
NM_000094.4(COL7A1):c.8245G>A (p.Gly2749Arg)	rs121912853	0.00001
NM_000094.4(COL7A1):c.8440+1G>A	rs1001774733	0.00001
NM_000094.4(COL7A1):c.2993-2A>G	rs1553612928
NM_000094.4(COL7A1):c.3551-3T>G	rs773263825
NM_000094.4(COL7A1):c.4120-1G>A	rs1299648939
NM_000094.4(COL7A1):c.7557+1G>T	rs786204774
NM_000094.4(COL7A1):c.846+2T>C	rs2045798629

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