ClinVar Miner

List of variants in gene COL9A1 reported as pathogenic by Invitae

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 41
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001851.6(COL9A1):c.1120G>T (p.Glu374Ter) rs374843706 0.00005
NM_001851.6(COL9A1):c.1852C>T (p.Arg618Ter) rs764469753 0.00002
NM_001851.6(COL9A1):c.1330C>T (p.Gln444Ter) rs1772042015 0.00001
NM_001851.6(COL9A1):c.1411C>T (p.Arg471Ter) rs745532481 0.00001
NM_001851.6(COL9A1):c.1519C>T (p.Arg507Ter) rs189754995 0.00001
NC_000006.11:g.(?_71011684)_(71012627_?)del
NC_000006.12:g.70255204dup rs2127576931
NM_001851.6(COL9A1):c.14G>A (p.Trp5Ter) rs770789859
NM_001851.6(COL9A1):c.1623dup (p.Val542fs)
NM_001851.6(COL9A1):c.1668_1671dup (p.Pro558Ter) rs2127576361
NM_001851.6(COL9A1):c.1668del (p.Glu557fs)
NM_001851.6(COL9A1):c.1817del (p.Pro606fs) rs769918278
NM_001851.6(COL9A1):c.1877del (p.Ser626fs) rs2127566670
NM_001851.6(COL9A1):c.1889T>G (p.Leu630Ter)
NM_001851.6(COL9A1):c.188del (p.Phe63fs) rs1057519130
NM_001851.6(COL9A1):c.190C>T (p.Gln64Ter)
NM_001851.6(COL9A1):c.1933del (p.Leu645fs) rs2127565932
NM_001851.6(COL9A1):c.2248C>T (p.Gln750Ter) rs887513791
NM_001851.6(COL9A1):c.2361_2362del (p.Ala788fs)
NM_001851.6(COL9A1):c.2364dup (p.Thr789fs) rs2127557714
NM_001851.6(COL9A1):c.2403dup (p.Gly802fs)
NM_001851.6(COL9A1):c.309T>A (p.Tyr103Ter) rs372763803
NM_001851.6(COL9A1):c.352C>T (p.Arg118Ter) rs147237457
NM_001851.6(COL9A1):c.353_357dup (p.Thr120delinsGluTer)
NM_001851.6(COL9A1):c.403del (p.Asp135fs) rs2127605169
NM_001851.6(COL9A1):c.415A>T (p.Lys139Ter)
NM_001851.6(COL9A1):c.59G>A (p.Trp20Ter) rs2127609482
NM_001851.6(COL9A1):c.604G>T (p.Glu202Ter)
NM_001851.6(COL9A1):c.611T>G (p.Leu204Ter)
NM_001851.6(COL9A1):c.706C>T (p.Gln236Ter)
NM_001851.6(COL9A1):c.710G>A (p.Trp237Ter)
NM_001851.6(COL9A1):c.733del (p.Leu245fs)
NM_001851.6(COL9A1):c.771dup (p.Arg258fs)
NM_001851.6(COL9A1):c.783del (p.Ser262fs)
NM_001851.6(COL9A1):c.802A>T (p.Arg268Ter)
NM_001851.6(COL9A1):c.847_848del (p.Pro283fs)
NM_001851.6(COL9A1):c.848dup (p.Gly284fs) rs941174282
NM_001851.6(COL9A1):c.865dup (p.Asp289fs)
NM_001851.6(COL9A1):c.902dup (p.Pro306fs) rs771382737
NM_001851.6(COL9A1):c.924del (p.Glu309fs)
NM_001851.6(COL9A1):c.9dup (p.Cys4fs) rs1404756199

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.