List of variants in gene COL5A1 reported as likely benign for Connective tissue 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: 23

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000093.5(COL5A1):c.1588G>A (p.Gly530Ser)	rs61735045	0.03116
NM_000093.5(COL5A1):c.4410C>T (p.Pro1470=)	rs41310953	0.00253
NM_000093.5(COL5A1):c.4230+5C>T	rs142248898	0.00182
NM_000093.5(COL5A1):c.4065C>T (p.Pro1355=)	rs61737906	0.00164
NM_000093.5(COL5A1):c.3259-8C>T	rs146461106	0.00159
NM_000093.5(COL5A1):c.193C>T (p.Arg65Trp)	rs139468527	0.00124
NM_000093.5(COL5A1):c.924+13C>T	rs199836060	0.00106
NM_000093.5(COL5A1):c.61C>T (p.Pro21Ser)	rs548525119	0.00094
NM_000093.5(COL5A1):c.341C>A (p.Ala114Asp)	rs147589613	0.00058
NM_000093.5(COL5A1):c.996C>T (p.Asp332=)	rs144763302	0.00058
NM_000093.5(COL5A1):c.3906+20G>A	rs148053413	0.00047
NM_000093.5(COL5A1):c.1283C>T (p.Ser428Leu)	rs770793962	0.00009
NM_000093.5(COL5A1):c.3691-9T>C	rs187584029	0.00009
NM_000093.5(COL5A1):c.3744+19C>T	rs200498760	0.00009
NM_000093.5(COL5A1):c.3852+9C>T	rs548696863	0.00008
NM_000093.5(COL5A1):c.2034+18G>C	rs200055343	0.00005
NM_000093.5(COL5A1):c.3258+7C>A	rs750710374	0.00002
NM_000093.5(COL5A1):c.1719+10T>C	rs202231659	0.00001
NM_000093.5(COL5A1):c.1881+13C>T	rs753635328	0.00001
NM_000093.5(COL5A1):c.233C>T (p.Thr78Ile)	rs555131723	0.00001
NM_000093.5(COL5A1):c.2883A>G (p.Gly961=)	rs1244102860	0.00001
NM_000093.5(COL5A1):c.4446+14C>T	rs1564481400
NM_000093.5(COL5A1):c.514G>T (p.Val172Phe)	rs150147262

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.