ClinVar Miner

List of variants in gene COL2A1 reported by OMIM

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 55
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001844.5(COL2A1):c.4148C>T (p.Thr1383Met) rs138498898 0.00005
NM_001844.5(COL2A1):c.4316C>T (p.Thr1439Met) rs121912886 0.00005
NM_001844.5(COL2A1):c.2155C>T (p.Arg719Cys) rs121912865 0.00001
NM_001844.5(COL2A1):c.3508G>A (p.Gly1170Ser) rs121912891 0.00001
NM_001844.5(COL2A1):c.1060G>A (p.Gly354Arg) rs121912871
NM_001844.5(COL2A1):c.1222-2A>G rs2136577259
NM_001844.5(COL2A1):c.1266+1del rs587776847
NM_001844.5(COL2A1):c.141G>A (p.Trp47Ter) rs121912896
NM_001844.5(COL2A1):c.1420-2A>G rs794727377
NM_001844.5(COL2A1):c.1475G>T (p.Gly492Val) rs121912881
NM_001844.5(COL2A1):c.1510G>T (p.Gly504Cys) rs121912880
NM_001844.5(COL2A1):c.1547G>A (p.Gly516Asp) rs121912888
NM_001844.5(COL2A1):c.1581+5G>A rs1408154129
NM_001844.5(COL2A1):c.1637G>T (p.Gly546Val) rs121912899
NM_001844.5(COL2A1):c.1680+1G>A rs1057524696
NM_001844.5(COL2A1):c.1693C>T (p.Arg565Cys) rs121912884
NM_001844.5(COL2A1):c.170G>A (p.Cys57Tyr) rs121912898
NM_001844.5(COL2A1):c.171_172del (p.Cys57_Asp58delinsTer) rs2136637244
NM_001844.5(COL2A1):c.192C>A (p.Cys64Ter) rs121912897
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.2149G>A (p.Gly717Ser) rs387906558
NM_001844.5(COL2A1):c.2320G>A (p.Gly774Ser) rs121912867
NM_001844.5(COL2A1):c.2671G>C (p.Gly891Arg) rs121912879
NM_001844.5(COL2A1):c.2710C>T (p.Arg904Cys) rs121912882
NM_001844.5(COL2A1):c.2725G>T (p.Gly909Cys) rs121912875
NM_001844.5(COL2A1):c.2751del (p.Gly918fs) rs2136528572
NM_001844.5(COL2A1):c.2794C>T (p.Arg932Ter) rs121912866
NM_001844.5(COL2A1):c.2905G>A (p.Gly969Ser) rs121912878
NM_001844.5(COL2A1):c.2965C>T (p.Arg989Cys) rs121912874
NM_001844.5(COL2A1):c.2974A>G (p.Arg992Gly) rs121912895
NM_001844.5(COL2A1):c.3138del (p.Gly1047fs) rs121912873
NM_001844.5(COL2A1):c.3158G>A (p.Gly1053Glu) rs121912868
NM_001844.5(COL2A1):c.3220G>A (p.Gly1074Ser) rs121912864
NM_001844.5(COL2A1):c.3489+163_3597+2del rs1555164872
NM_001844.5(COL2A1):c.3510_3554dup (p.Pro1186_Pro1187insSerGlyLysAspGlyAlaAsnGlyIleProGlyProIleGlyPro) rs2136514302
NM_001844.5(COL2A1):c.3517G>C (p.Gly1173Arg) rs121912883
NM_001844.5(COL2A1):c.3589G>A (p.Gly1197Ser) rs121912870
NM_001844.5(COL2A1):c.3655G>C (p.Asp1219His) rs760093841
NM_001844.5(COL2A1):c.3886+2T>C rs1592196064
NM_001844.5(COL2A1):c.3914G>A (p.Gly1305Asp) rs121912887
NM_001844.5(COL2A1):c.3978del (p.Asn1327fs) rs2136508504
NM_001844.5(COL2A1):c.4172A>G (p.Tyr1391Cys) rs121912889
NM_001844.5(COL2A1):c.4287_4291dup (p.Tyr1431fs) rs2136504869
NM_001844.5(COL2A1):c.4314C>A (p.Cys1438Ter) rs121912890
NM_001844.5(COL2A1):c.4337del (p.Gly1446fs) rs1565664375
NM_001844.5(COL2A1):c.4413_4416del (p.Gly1472fs) rs1592192920
NM_001844.5(COL2A1):c.619G>A (p.Gly207Arg) rs869312907
NM_001844.5(COL2A1):c.625C>T (p.Arg209Ter) rs121912869
NM_001844.5(COL2A1):c.709-2A>G rs1592232116
NM_001844.5(COL2A1):c.800G>A (p.Gly267Asp) rs121912872
NM_001844.5(COL2A1):c.823C>T (p.Arg275Cys) rs121912876
NM_001844.5(COL2A1):c.906_924+9del rs2136609285
NM_001844.5(COL2A1):c.908G>A (p.Gly303Asp) rs121912877
NM_001844.5(COL2A1):c.952G>A (p.Gly318Arg) rs121912894

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.