ClinVar Miner

List of variants in gene combination COL5A1, LOC101448202 reported as likely benign for Ehlers-Danlos syndrome

Included ClinVar conditions (35):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 25
Download table as spreadsheet
HGVS dbSNP
NM_000093.4(COL5A1):c.4467G>T (p.Gly1489=) rs878853653
NM_000093.4(COL5A1):c.4536C>T (p.Ser1512=) rs367711669
NM_000093.4(COL5A1):c.4614G>A (p.Pro1538=) rs762698462
NM_000093.4(COL5A1):c.4658C>T (p.Pro1553Leu) rs530570306
NM_000093.4(COL5A1):c.4698+9C>T rs753030199
NM_000093.4(COL5A1):c.4719C>T (p.Ile1573=) rs966533667
NM_000093.4(COL5A1):c.4791T>C (p.Asn1597=) rs886063677
NM_000093.4(COL5A1):c.4836C>T (p.Phe1612=) rs183904215
NM_000093.4(COL5A1):c.4905C>T (p.Pro1635=) rs760426595
NM_000093.4(COL5A1):c.4906G>A (p.Ala1636Thr) rs113452150
NM_000093.4(COL5A1):c.4910G>A (p.Arg1637His) rs199998065
NM_000093.4(COL5A1):c.4941C>T (p.Pro1647=) rs747549921
NM_000093.4(COL5A1):c.4968C>T (p.Val1656=) rs201871481
NM_000093.4(COL5A1):c.5034G>A (p.Ser1678=) rs148006741
NM_000093.4(COL5A1):c.5067+7A>G rs374122742
NM_000093.4(COL5A1):c.5223C>T (p.Asn1741=) rs144081161
NM_000093.4(COL5A1):c.5250G>A (p.Val1750=) rs200348547
NM_000093.4(COL5A1):c.5271G>A (p.Thr1757=) rs142886387
NM_000093.4(COL5A1):c.5280C>T (p.Tyr1760=) rs767284056
NM_000093.4(COL5A1):c.5298C>T (p.Phe1766=) rs1231716528
NM_000093.4(COL5A1):c.5335A>G (p.Asn1779Asp) rs780400029
NM_000093.4(COL5A1):c.5349C>T (p.Arg1783=) rs140031713
NM_000093.4(COL5A1):c.5350G>A (p.Ala1784Thr) rs143859495
NM_000093.4(COL5A1):c.5371-8T>C rs1352923765
NM_000093.4(COL5A1):c.5514C>T (p.Gly1838=) rs1060504530

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.