ClinVar Miner

List of variants in gene COL7A1 reported as likely benign by Preventiongenetics, part of Exact Sciences

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 7
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000094.4(COL7A1):c.6696C>A (p.Pro2232=) rs61729223 0.01181
NM_000094.4(COL7A1):c.5388+20C>T rs200931039 0.00101
NM_000094.4(COL7A1):c.2242G>A (p.Glu748Lys) rs148411473 0.00095
NM_000094.4(COL7A1):c.933C>T (p.Tyr311=) rs121912830 0.00056
NM_000094.4(COL7A1):c.4818+18T>A rs368227259 0.00001
NM_000094.4(COL7A1):c.2469A>C (p.Pro823=) rs886038238
NM_000094.4(COL7A1):c.8620+18_8620+19insCGC rs138595277

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.