ClinVar Miner

List of variants in gene COL1A2 reported by Department of Medical Sciences, Uppsala University

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 24
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000089.4(COL1A2):c.1268G>A (p.Arg423His) rs764780528 0.00005
LRG_2t1:c.(?_-471)_(738+1_739-1)del
NM_000089.3(COL1A2):c.[2188-4A>C];[2717G>A]
NM_000089.4(COL1A2):c.1009G>A (p.Gly337Ser) rs67865220
NM_000089.4(COL1A2):c.1162G>C (p.Gly388Arg) rs1114167412
NM_000089.4(COL1A2):c.1171G>A (p.Gly391Ser) rs67707918
NM_000089.4(COL1A2):c.1197+5G>A rs68132885
NM_000089.4(COL1A2):c.1406G>C (p.Gly469Ala) rs72658119
NM_000089.4(COL1A2):c.1801G>A (p.Gly601Ser) rs72658143
NM_000089.4(COL1A2):c.1937G>T (p.Gly646Val) rs72658150
NM_000089.4(COL1A2):c.2835+1G>A rs72659310
NM_000089.4(COL1A2):c.2918G>T (p.Gly973Val) rs67609234
NM_000089.4(COL1A2):c.3008G>A (p.Gly1003Asp) rs1114167414
NM_000089.4(COL1A2):c.3034G>A (p.Gly1012Ser) rs72659319
NM_000089.4(COL1A2):c.3089G>C (p.Gly1030Ala) rs1114167415
NM_000089.4(COL1A2):c.3106G>C (p.Gly1036Arg) rs72659325
NM_000089.4(COL1A2):c.326G>A (p.Gly109Asp) rs1114167416
NM_000089.4(COL1A2):c.3304G>T (p.Gly1102Cys) rs67768540
NM_000089.4(COL1A2):c.577G>A (p.Gly193Ser) rs72656370
NM_000089.4(COL1A2):c.793G>C (p.Gly265Arg) rs1114167417
NM_000089.4(COL1A2):c.794G>A (p.Gly265Asp) rs72656386
NM_000089.4(COL1A2):c.856G>A (p.Gly286Ser) rs1114167418
NM_000089.4(COL1A2):c.874G>A (p.Gly292Ser) rs906553840
NM_000089.4(COL1A2):c.992G>A (p.Gly331Asp) rs67729041

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.