ClinVar Miner

List of variants in gene COL2A1 reported as pathogenic for Stickler syndrome type 1

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 30
Download table as spreadsheet
HGVS dbSNP
COL2A1, 1-BP DEL, EX40
COL2A1, 1-BP DEL, EX50
COL2A1, IVS17, A-G, -2
NM_001844.5(COL2A1):c.1177G>A (p.Gly393Ser) rs1025202963
NM_001844.5(COL2A1):c.1680+1G>A rs1057524696
NM_001844.5(COL2A1):c.1693C>T (p.Arg565Cys) rs121912884
NM_001844.5(COL2A1):c.1957C>T (p.Arg653Ter) rs121912893
NM_001844.5(COL2A1):c.1999C>T (p.Leu667Phe) rs121912885
NM_001844.5(COL2A1):c.2035A>T (p.Lys679Ter) rs1565679039
NM_001844.5(COL2A1):c.2101C>T (p.Arg701Ter) rs1555166555
NM_001844.5(COL2A1):c.2381del (p.Pro794fs) rs1555166218
NM_001844.5(COL2A1):c.2678dup (p.Ala895fs)
NM_001844.5(COL2A1):c.2679+1G>A rs1592205758
NM_001844.5(COL2A1):c.2794C>T (p.Arg932Ter) rs121912866
NM_001844.5(COL2A1):c.2818C>T (p.Arg940Ter) rs1057524114
NM_001844.5(COL2A1):c.2908_2909dup (p.Pro971fs) rs1592202517
NM_001844.5(COL2A1):c.3106C>T (p.Arg1036Ter) rs748459670
NM_001844.5(COL2A1):c.3138del (p.Gly1047fs) rs121912873
NM_001844.5(COL2A1):c.3166-1G>A rs1555165204
NM_001844.5(COL2A1):c.3270_3273delinsCAGCAAGGAGACAAGGAGACAGAG (p.Glu1090fs)
NM_001844.5(COL2A1):c.3598-1G>A rs1592196867
NM_001844.5(COL2A1):c.3642del (p.Gly1215fs) rs1592196744
NM_001844.5(COL2A1):c.3731del (p.Ala1244fs) rs1555164735
NM_001844.5(COL2A1):c.3896G>A (p.Trp1299Ter)
NM_001844.5(COL2A1):c.491del (p.Pro164fs) rs1592235241
NM_001844.5(COL2A1):c.580_581del (p.Ala194fs) rs1592233968
NM_001844.5(COL2A1):c.625C>T (p.Arg209Ter) rs121912869
NM_001844.5(COL2A1):c.655G>A (p.Gly219Arg) rs1131691822
NM_001844.5(COL2A1):c.709-2A>G rs1592232116
NM_001844.5(COL2A1):c.823C>T (p.Arg275Cys) rs121912876

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.