ClinVar Miner

List of variants in gene COL11A2 reported as likely pathogenic

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 70
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_080680.3(COL11A2):c.1861C>A (p.Pro621Thr) rs121912952 0.00004
NM_080680.3(COL11A2):c.3058C>T (p.Arg1020Ter) rs911722283 0.00002
NM_080680.3(COL11A2):c.1119+1G>A rs367706373 0.00001
NM_080680.3(COL11A2):c.2554C>T (p.Arg852Ter) rs1387164225 0.00001
NM_080680.3(COL11A2):c.3850C>T (p.Arg1284Trp) rs886061315 0.00001
NM_080680.3(COL11A2):c.3958C>T (p.Arg1320Ter) rs1206475365 0.00001
NM_080680.3(COL11A2):c.939+1G>A rs750173113 0.00001
NM_080680.3(COL11A2):c.1019dup (p.Pro340_Glu341insTer)
NM_080680.3(COL11A2):c.1119+1G>C rs367706373
NM_080680.3(COL11A2):c.1119+1G>T
NM_080680.3(COL11A2):c.1135C>T (p.Arg379Ter) rs1417182811
NM_080680.3(COL11A2):c.1179+1G>A
NM_080680.3(COL11A2):c.1408C>T (p.Gln470Ter)
NM_080680.3(COL11A2):c.1557+1G>A
NM_080680.3(COL11A2):c.1606C>T (p.Arg536Ter)
NM_080680.3(COL11A2):c.1719+3dup rs1554220864
NM_080680.3(COL11A2):c.1798C>T (p.Arg600Ter)
NM_080680.3(COL11A2):c.1872+2T>C
NM_080680.3(COL11A2):c.1879C>T (p.Arg627Ter) rs374156844
NM_080680.3(COL11A2):c.2081_2085delinsA (p.Gly694fs) rs886044584
NM_080680.3(COL11A2):c.2087_2090del (p.Glu696fs) rs1583335192
NM_080680.3(COL11A2):c.2169+1G>T rs2150568816
NM_080680.3(COL11A2):c.2179G>T (p.Gly727Ter) rs768569721
NM_080680.3(COL11A2):c.2268+1G>A
NM_080680.3(COL11A2):c.2268+1G>C
NM_080680.3(COL11A2):c.2268+1G>T rs797044915
NM_080680.3(COL11A2):c.233-1G>T rs2150623900
NM_080680.3(COL11A2):c.233-2A>G
NM_080680.3(COL11A2):c.2376+1G>A rs2150565478
NM_080680.3(COL11A2):c.2583+1G>A rs1554218503
NM_080680.3(COL11A2):c.2682+2T>G
NM_080680.3(COL11A2):c.2690del (p.Pro897fs) rs2150555528
NM_080680.3(COL11A2):c.2754del (p.Gly919fs) rs1562336726
NM_080680.3(COL11A2):c.2791-2A>G
NM_080680.3(COL11A2):c.2843dup (p.Pro950fs)
NM_080680.3(COL11A2):c.2898+1G>A
NM_080680.3(COL11A2):c.2899-2A>G
NM_080680.3(COL11A2):c.3043-2A>T
NM_080680.3(COL11A2):c.3075del (p.Gly1027fs) rs1770116834
NM_080680.3(COL11A2):c.3080G>A (p.Gly1027Glu) rs2150548120
NM_080680.3(COL11A2):c.3100C>T (p.Arg1034Cys) rs121912947
NM_080680.3(COL11A2):c.3116G>T (p.Gly1039Val) rs1554216943
NM_080680.3(COL11A2):c.3151-2A>G rs2150546942
NM_080680.3(COL11A2):c.3366+1G>A rs2150544713
NM_080680.3(COL11A2):c.3385G>A (p.Gly1129Arg) rs550153707
NM_080680.3(COL11A2):c.3422G>C (p.Gly1141Ala)
NM_080680.3(COL11A2):c.3582+4A>G
NM_080680.3(COL11A2):c.3666del (p.Ile1223fs)
NM_080680.3(COL11A2):c.3852+1G>T
NM_080680.3(COL11A2):c.3900_3906+12del
NM_080680.3(COL11A2):c.4127A>G (p.Gln1376Arg)
NM_080680.3(COL11A2):c.4135C>T (p.Arg1379Ter) rs121912950
NM_080680.3(COL11A2):c.4220del (p.Lys1407fs) rs1562312539
NM_080680.3(COL11A2):c.4249G>A (p.Gly1417Arg) rs2150522747
NM_080680.3(COL11A2):c.4294G>T (p.Gly1432Ter) rs1404134749
NM_080680.3(COL11A2):c.4428+1G>A
NM_080680.3(COL11A2):c.4430G>T (p.Gly1477Val) rs745434198
NM_080680.3(COL11A2):c.4438G>A (p.Gly1480Arg) rs1172866556
NM_080680.3(COL11A2):c.444-2A>T rs2150621077
NM_080680.3(COL11A2):c.4482+5G>C
NM_080680.3(COL11A2):c.4864-1G>C
NM_080680.3(COL11A2):c.4943A>T (p.His1648Leu) rs1487325262
NM_080680.3(COL11A2):c.508C>T (p.Arg170Ter)
NM_080680.3(COL11A2):c.5152C>G (p.Leu1718Val) rs1413052565
NM_080680.3(COL11A2):c.529C>T (p.Arg177Ter) rs764450149
NM_080680.3(COL11A2):c.654T>A (p.Tyr218Ter) rs786205578
NM_080680.3(COL11A2):c.876+1G>A rs144041807
NM_080680.3(COL11A2):c.966dup (p.Thr323fs) rs748440351
NM_080680.3(COL11A2):c.968dup (p.Ala324fs) rs1583366400
NM_080680.3(COL11A2):c.982C>T (p.Gln328Ter) rs1554223504

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.