List of variants in gene COL7A1 reported as likely pathogenic for Epidermolysis bullosa dystrophica

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: 20

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HGVS	dbSNP	gnomAD frequency
NM_000094.4(COL7A1):c.5440C>T (p.Arg1814Cys)	rs778035441	0.00002
NM_000094.4(COL7A1):c.3831+1G>T	rs776841521	0.00001
NM_000094.4(COL7A1):c.5314C>T (p.Arg1772Trp)	rs1032335328	0.00001
NM_000094.4(COL7A1):c.6341G>T (p.Gly2114Val)	rs2044175577	0.00001
NM_000094.4(COL7A1):c.7580G>A (p.Gly2527Glu)	rs906208330	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.1637-1G>A	rs886058642
NM_000094.4(COL7A1):c.2993-2A>G	rs1553612928
NM_000094.4(COL7A1):c.3139+1G>A	rs1284183246
NM_000094.4(COL7A1):c.3831+1G>A	rs776841521
NM_000094.4(COL7A1):c.3942dup (p.Asn1315fs)	rs747912732
NM_000094.4(COL7A1):c.4120-1G>A	rs1299648939
NM_000094.4(COL7A1):c.4900-1G>A	rs2107710536
NM_000094.4(COL7A1):c.5444G>A (p.Gly1815Glu)	rs2531038212
NM_000094.4(COL7A1):c.6341G>A (p.Gly2114Asp)	rs2044175577
NM_000094.4(COL7A1):c.7557+1G>T	rs786204774
NM_000094.4(COL7A1):c.8324G>A (p.Gly2775Asp)	rs773146110
NM_000094.4(COL7A1):c.846+2T>C	rs2045798629

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