ClinVar Miner

List of variants in gene COL5A1 reported as pathogenic by GeneDx

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 20
Download table as spreadsheet
HGVS dbSNP
NM_000093.4(COL5A1):c.1183G>T (p.Glu395Ter) rs1554788339
NM_000093.4(COL5A1):c.1332+1G>T rs1064796684
NM_000093.4(COL5A1):c.1502del (p.Pro501fs) rs1085307855
NM_000093.4(COL5A1):c.1503del (p.Gly502fs) rs1554792011
NM_000093.4(COL5A1):c.2159dup (p.Gly721fs) rs863223469
NM_000093.4(COL5A1):c.2162dup (p.Gln722fs) rs863223470
NM_000093.4(COL5A1):c.2347_2348insT (p.Gln783fs) rs863223471
NM_000093.4(COL5A1):c.2734C>T (p.Arg912Ter) rs863223478
NM_000093.4(COL5A1):c.2784del (p.Lys929fs) rs863223472
NM_000093.4(COL5A1):c.292G>T (p.Glu98Ter) rs369126350
NM_000093.4(COL5A1):c.3184C>T (p.Arg1062Ter) rs387906606
NM_000093.4(COL5A1):c.3397C>T (p.Arg1133Ter) rs886042045
NM_000093.4(COL5A1):c.3726_3732del (p.Gly1243fs) rs1554805076
NM_000093.4(COL5A1):c.3752dup (p.Pro1253fs) rs786205100
NM_000093.4(COL5A1):c.3906+3G>T rs786200922
NM_000093.4(COL5A1):c.4126dup (p.Ser1376fs) rs1131691820
NM_000093.4(COL5A1):c.4282C>T (p.Gln1428Ter) rs863223454
NM_000093.4(COL5A1):c.4283del (p.Gln1428fs) rs863223474
NM_000093.4(COL5A1):c.730_731TG[1] (p.Cys244_Asp245delinsTer) rs1554787557
NM_000093.4(COL5A1):c.904G>T (p.Glu302Ter) rs1554787811

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.