List of variants in gene COL7A1 reported as pathogenic by 3billion

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 14

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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.3831+1G>T	rs776841521	0.00001
NM_000094.4(COL7A1):c.4448G>A (p.Gly1483Asp)	rs756217590	0.00001
NM_000094.4(COL7A1):c.5047C>T (p.Arg1683Ter)	rs760063197	0.00001
NM_000094.4(COL7A1):c.5314C>T (p.Arg1772Trp)	rs1032335328	0.00001
NM_000094.4(COL7A1):c.553C>T (p.Arg185Ter)	rs886041186	0.00001
NM_000094.4(COL7A1):c.751C>T (p.Gln251Ter)	rs1211890738	0.00001
NM_000094.4(COL7A1):c.7828C>T (p.Arg2610Ter)	rs1064793916	0.00001
NM_000094.4(COL7A1):c.1606C>T (p.Gln536Ter)	rs1262051629
NM_000094.4(COL7A1):c.2858_2859del (p.Glu953fs)	rs2107757949
NM_000094.4(COL7A1):c.5324del (p.Pro1775fs)	rs2531054735
NM_000094.4(COL7A1):c.6697G>A (p.Gly2233Ser)	rs2107661505
NM_000094.4(COL7A1):c.6759_6760del (p.Gly2254fs)	rs2530913503
NM_000094.4(COL7A1):c.8117del (p.Pro2706fs)	rs34040119

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