ClinVar Miner

List of variants in gene COL5A2 reported by ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 30
Download table as spreadsheet
HGVS dbSNP
NM_000393.3(COL5A2):c.1081A>C (p.Met361Leu) rs76148000
NM_000393.3(COL5A2):c.1292A>G (p.Lys431Arg) rs144602736
NM_000393.3(COL5A2):c.1301C>T (p.Thr434Met) rs145850743
NM_000393.3(COL5A2):c.1378C>T (p.Pro460Ser) rs35830636
NM_000393.3(COL5A2):c.1400C>T (p.Pro467Leu) rs115570272
NM_000393.3(COL5A2):c.198T>C (p.Asn66=) rs76511879
NM_000393.3(COL5A2):c.2423C>T (p.Pro808Leu) rs575864379
NM_000393.3(COL5A2):c.2562C>T (p.Asp854=) rs148430780
NM_000393.3(COL5A2):c.261G>A (p.Thr87=) rs142044596
NM_000393.3(COL5A2):c.3038C>T (p.Ala1013Val) rs372220538
NM_000393.3(COL5A2):c.3689C>G (p.Thr1230Arg) rs62184175
NM_000393.3(COL5A2):c.3690A>C (p.Thr1230=) rs10197596
NM_000393.3(COL5A2):c.3720T>C (p.Tyr1240=) rs10208525
NM_000393.3(COL5A2):c.388C>T (p.Arg130Cys) rs754170105
NM_000393.3(COL5A2):c.75A>G (p.Lys25=) rs549894501
NM_000393.4(COL5A2):c.1302+9T>C rs1199559237
NM_000393.4(COL5A2):c.1535T>C (p.Val512Ala) rs35852101
NM_000393.4(COL5A2):c.2498C>T (p.Pro833Leu) rs116298748
NM_000393.4(COL5A2):c.283G>C (p.Val95Leu) rs1200990468
NM_000393.4(COL5A2):c.2963C>T (p.Thr988Met) rs369072636
NM_000393.4(COL5A2):c.3071C>T (p.Ala1024Val) rs763462242
NM_000393.4(COL5A2):c.315C>A (p.Thr105=) rs4128539
NM_000393.4(COL5A2):c.322+157C>T rs4128538
NM_000393.4(COL5A2):c.3309+6G>T rs775681859
NM_000393.4(COL5A2):c.3309+7A>G rs1553513652
NM_000393.4(COL5A2):c.3352C>T (p.Arg1118Cys) rs1386081744
NM_000393.4(COL5A2):c.906+10A>T rs776578452
NM_000393.5(COL5A2):c.1264A>G (p.Ile422Val)
NM_000393.5(COL5A2):c.3348G>A (p.Gly1116=) rs1553513577
NM_000393.5(COL5A2):c.399G>A (p.Pro133=) rs369867930

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.