List of variants in gene combination COL5A1, LOC101448202 reported as likely benign for COL5A1-related disorder

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: 16

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000093.5(COL5A1):c.4906G>A (p.Ala1636Thr)	rs113452150	0.00092
NM_000093.5(COL5A1):c.4814C>T (p.Ala1605Val)	rs145175057	0.00034
NM_000093.5(COL5A1):c.5349C>T (p.Arg1783=)	rs140031713	0.00022
NM_000093.5(COL5A1):c.4659G>A (p.Pro1553=)	rs368782334	0.00010
NM_000093.5(COL5A1):c.5136+55A>G	rs374114460	0.00009
NM_000093.5(COL5A1):c.5137-7C>T	rs376750863	0.00008
NM_000093.5(COL5A1):c.5250G>A (p.Val1750=)	rs200348547	0.00008
NM_000093.5(COL5A1):c.5271G>A (p.Thr1757=)	rs142886387	0.00007
NM_000093.5(COL5A1):c.*8C>T	rs375921390	0.00005
NM_000093.5(COL5A1):c.4836C>T (p.Phe1612=)	rs183904215	0.00003
NM_000093.5(COL5A1):c.5460C>T (p.Phe1820=)	rs768460206	0.00002
NM_000093.5(COL5A1):c.4614G>A (p.Pro1538=)	rs762698462	0.00001
NM_000093.5(COL5A1):c.*9G>A
NM_000093.5(COL5A1):c.4962C>T (p.Tyr1654=)	rs998985081
NM_000093.5(COL5A1):c.5136+120G>A
NM_000093.5(COL5A1):c.5136+77G>T

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.