List of variants in gene COL7A1 reported as pathogenic by PreventionGenetics, part of Exact Sciences

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: 36

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HGVS	dbSNP	gnomAD frequency
NM_000094.4(COL7A1):c.5820G>A (p.Pro1940=)	rs200972872	0.00010
NM_000094.4(COL7A1):c.425A>G (p.Lys142Arg)	rs121912856	0.00008
NM_000094.4(COL7A1):c.7344G>A (p.Val2448=)	rs201728948	0.00006
NM_000094.4(COL7A1):c.7864C>T (p.Arg2622Trp)	rs139318843	0.00005
NM_000094.4(COL7A1):c.8440C>T (p.Arg2814Ter)	rs143457874	0.00003
NM_000094.4(COL7A1):c.1732C>T (p.Arg578Ter)	rs144023803	0.00002
NM_000094.4(COL7A1):c.497dup (p.Val168fs)	rs766902987	0.00002
NM_000094.4(COL7A1):c.7012C>T (p.Arg2338Ter)	rs745874032	0.00002
NM_000094.4(COL7A1):c.1837C>T (p.Arg613Ter)	rs759634066	0.00001
NM_000094.4(COL7A1):c.2005C>T (p.Arg669Ter)	rs780261665	0.00001
NM_000094.4(COL7A1):c.4182_4188dup (p.Ala1397fs)	rs745318365	0.00001
NM_000094.4(COL7A1):c.5047C>T (p.Arg1683Ter)	rs760063197	0.00001
NM_000094.4(COL7A1):c.5344G>A (p.Gly1782Arg)	rs374718902	0.00001
NM_000094.4(COL7A1):c.553C>T (p.Arg185Ter)	rs886041186	0.00001
NM_000094.4(COL7A1):c.6205C>T (p.Arg2069Cys)	rs121912855	0.00001
NM_000094.4(COL7A1):c.7234C>T (p.Arg2412Ter)	rs1342522878	0.00001
NM_000094.4(COL7A1):c.1637-1G>A	rs886058642
NM_000094.4(COL7A1):c.2471dup (p.Asn825fs)	rs746056280
NM_000094.4(COL7A1):c.356_357del (p.Thr119fs)	rs1261268687
NM_000094.4(COL7A1):c.5605G>C (p.Gly1869Arg)	rs1057517724
NM_000094.4(COL7A1):c.5969del (p.Pro1990fs)	rs2530977941
NM_000094.4(COL7A1):c.6007G>A (p.Gly2003Arg)	rs121912832
NM_000094.4(COL7A1):c.6017G>A (p.Gly2006Asp)	rs121912842
NM_000094.4(COL7A1):c.6100G>A (p.Gly2034Arg)	rs121912844
NM_000094.4(COL7A1):c.6100G>T (p.Gly2034Trp)	rs121912844
NM_000094.4(COL7A1):c.6127G>A (p.Gly2043Arg)	rs121912836
NM_000094.4(COL7A1):c.6235G>A (p.Gly2079Arg)	rs2107671960
NM_000094.4(COL7A1):c.6527dup (p.Gly2177fs)	rs768128088
NM_000094.4(COL7A1):c.6656dup (p.Thr2220fs)	rs757406252
NM_000094.4(COL7A1):c.6697G>A (p.Gly2233Ser)	rs2107661505
NM_000094.4(COL7A1):c.6899A>G (p.Gln2300Arg)
NM_000094.4(COL7A1):c.7096G>T (p.Gly2366Cys)	rs1560204600
NM_000094.4(COL7A1):c.7621C>T (p.Arg2541Ter)	rs2107641787
NM_000094.4(COL7A1):c.7787del (p.Gly2596fs)	rs759990189
NM_000094.4(COL7A1):c.8165G>T (p.Gly2722Val)	rs759949767
NM_000094.4(COL7A1):c.8246G>A (p.Gly2749Glu)	rs2107631988

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