ClinVar Miner

List of variants in gene COL5A1 reported as likely benign by Center for Human Genetics, Inc

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 24
Download table as spreadsheet
HGVS dbSNP
NM_000093.4(COL5A1):c.1283C>T (p.Ser428Leu) rs770793962
NM_000093.4(COL5A1):c.1588G>A (p.Gly530Ser) rs61735045
NM_000093.4(COL5A1):c.1719+10T>C rs202231659
NM_000093.4(COL5A1):c.1881+13C>T rs753635328
NM_000093.4(COL5A1):c.193C>T (p.Arg65Trp) rs139468527
NM_000093.4(COL5A1):c.2034+18G>C rs200055343
NM_000093.4(COL5A1):c.233C>T (p.Thr78Ile) rs555131723
NM_000093.4(COL5A1):c.2883A>G (p.Gly961=) rs1244102860
NM_000093.4(COL5A1):c.3258+7C>A rs750710374
NM_000093.4(COL5A1):c.3259-8C>T rs146461106
NM_000093.4(COL5A1):c.341C>A (p.Ala114Asp) rs147589613
NM_000093.4(COL5A1):c.3691-9T>C rs187584029
NM_000093.4(COL5A1):c.3744+19C>T rs200498760
NM_000093.4(COL5A1):c.3852+9C>T rs548696863
NM_000093.4(COL5A1):c.3906+20G>A rs148053413
NM_000093.4(COL5A1):c.4065C>T (p.Pro1355=) rs61737906
NM_000093.4(COL5A1):c.4230+5C>T rs142248898
NM_000093.4(COL5A1):c.4410C>T (p.Pro1470=) rs41310953
NM_000093.4(COL5A1):c.4446+14C>T
NM_000093.4(COL5A1):c.514G>T (p.Val172Phe) rs150147262
NM_000093.4(COL5A1):c.574G>A (p.Asp192Asn) rs138579182
NM_000093.4(COL5A1):c.61C>T (p.Pro21Ser) rs548525119
NM_000093.4(COL5A1):c.924+13C>T rs199836060
NM_000093.4(COL5A1):c.996C>T (p.Asp332=) rs144763302

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.