ClinVar Miner

List of variants in gene COL2A1 studied for Connective tissue disorder

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 72
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001844.5(COL2A1):c.426A>T (p.Glu142Asp) rs34392760 0.03719
NM_001844.5(COL2A1):c.2625+9C>T rs41272027 0.02608
NM_001844.5(COL2A1):c.3000G>A (p.Pro1000=) rs1793947 0.02436
NM_001844.5(COL2A1):c.*4C>T rs41272773 0.02262
NM_001844.5(COL2A1):c.610-7G>A rs7967258 0.01915
NM_001844.5(COL2A1):c.1266+7G>A rs41317915 0.01359
NM_001844.5(COL2A1):c.2484G>C (p.Gly828=) rs1793940 0.01213
NM_001844.5(COL2A1):c.1545C>A (p.Arg515=) rs41317925 0.01027
NM_001844.5(COL2A1):c.213C>T (p.Asp71=) rs112469769 0.00730
NM_001844.5(COL2A1):c.2160C>A (p.Gly720=) rs145704340 0.00654
NM_001844.5(COL2A1):c.4104C>T (p.Pro1368=) rs12721379 0.00478
NM_001844.5(COL2A1):c.3102T>C (p.Pro1034=) rs1793948 0.00473
NM_001844.5(COL2A1):c.4327G>A (p.Gly1443Ser) rs78690642 0.00459
NM_001844.5(COL2A1):c.1221C>T (p.Ser407=) rs150865922 0.00456
NM_001844.5(COL2A1):c.4449G>A (p.Pro1483=) rs41272771 0.00357
NM_001844.5(COL2A1):c.1433C>T (p.Pro478Leu) rs201823490 0.00294
NM_001844.5(COL2A1):c.2334C>T (p.Ala778=) rs35504014 0.00278
NM_001844.5(COL2A1):c.2574C>T (p.Gly858=) rs141423593 0.00278
NM_001844.5(COL2A1):c.85+10C>G rs769941617 0.00128
NM_001844.5(COL2A1):c.2095-4G>A rs111570218 0.00089
NM_001844.5(COL2A1):c.969+6T>C rs139163410 0.00081
NM_001844.5(COL2A1):c.1913C>T (p.Thr638Ile) rs41263847 0.00073
NM_001844.5(COL2A1):c.3723C>T (p.Ala1241=) rs200993187 0.00062
NM_001844.5(COL2A1):c.3786C>G (p.Leu1262=) rs139114389 0.00060
NM_001844.5(COL2A1):c.1287T>C (p.Gly429=) rs35012272 0.00058
NM_001844.5(COL2A1):c.195C>T (p.Asp65=) rs202210896 0.00056
NM_001844.5(COL2A1):c.1366-13C>A rs200984998 0.00055
NM_001844.5(COL2A1):c.3736G>A (p.Gly1246Ser) rs147569641 0.00046
NM_001844.5(COL2A1):c.4116C>T (p.Asn1372=) rs150237416 0.00035
NM_001844.5(COL2A1):c.762+20C>A rs199807767 0.00026
NM_001844.5(COL2A1):c.4344T>C (p.Thr1448=) rs200214562 0.00014
NM_001844.5(COL2A1):c.17C>A (p.Ala6Asp) rs369359592 0.00013
NM_001844.5(COL2A1):c.550G>A (p.Ala184Thr) rs201817670 0.00012
NM_001844.5(COL2A1):c.4095T>C (p.Asn1365=) rs367625071 0.00007
NM_001844.5(COL2A1):c.3713A>C (p.Tyr1238Ser) rs199726428 0.00006
NM_001844.5(COL2A1):c.3150C>T (p.Gly1050=) rs376722458 0.00004
NM_001844.5(COL2A1):c.969+13A>G rs752733598 0.00004
NM_001844.5(COL2A1):c.2194-10C>T rs779541449 0.00003
NM_001844.5(COL2A1):c.580G>A (p.Ala194Thr) rs371445823 0.00003
NM_001844.5(COL2A1):c.2091C>G (p.Pro697=) rs762603514 0.00001
NM_001844.5(COL2A1):c.2156G>A (p.Arg719His) rs535980544 0.00001
NM_001844.5(COL2A1):c.2304T>C (p.Gly768=) rs925297712 0.00001
NM_001844.5(COL2A1):c.2909C>T (p.Pro970Leu) rs371268468 0.00001
NM_001844.5(COL2A1):c.3598-5T>C rs1441411760 0.00001
NM_001844.5(COL2A1):c.1267-2A>G rs2136576254
NM_001844.5(COL2A1):c.1420G>A (p.Gly474Ser) rs2136571594
NM_001844.5(COL2A1):c.1556G>A (p.Gly519Asp) rs1555167139
NM_001844.5(COL2A1):c.1597C>T (p.Arg533Ter) rs1085307608
NM_001844.5(COL2A1):c.1673G>A (p.Gly558Glu) rs2136567637
NM_001844.5(COL2A1):c.1862G>A (p.Gly621Glu) rs1939281881
NM_001844.5(COL2A1):c.2005G>A (p.Gly669Ser) rs1939205327
NM_001844.5(COL2A1):c.2050G>A (p.Gly684Ser) rs1231988113
NM_001844.5(COL2A1):c.2236C>T (p.Pro746Ser) rs1179925303
NM_001844.5(COL2A1):c.2248G>A (p.Gly750Arg) rs2136549103
NM_001844.5(COL2A1):c.2321G>A (p.Gly774Asp) rs2136546742
NM_001844.5(COL2A1):c.2546G>C (p.Gly849Ala) rs1939004215
NM_001844.5(COL2A1):c.255C>T (p.Cys85=) rs1555169484
NM_001844.5(COL2A1):c.2673C>G (p.Gly891=) rs41272029
NM_001844.5(COL2A1):c.2680-1G>A rs2136532474
NM_001844.5(COL2A1):c.2819G>C (p.Arg940Pro) rs533540496
NM_001844.5(COL2A1):c.2892C>T (p.Pro964=) rs769500366
NM_001844.5(COL2A1):c.2950G>C (p.Gly984Arg) rs2136526413
NM_001844.5(COL2A1):c.3022G>T (p.Gly1008Cys) rs2136525233
NM_001844.5(COL2A1):c.3050G>A (p.Gly1017Asp) rs2136525107
NM_001844.5(COL2A1):c.3490-19C>A rs200223738
NM_001844.5(COL2A1):c.3589G>A (p.Gly1197Ser) rs121912870
NM_001844.5(COL2A1):c.3756C>T (p.Asp1252=) rs377079894
NM_001844.5(COL2A1):c.3914G>C (p.Gly1305Ala) rs121912887
NM_001844.5(COL2A1):c.4149G>T (p.Thr1383=) rs750227063
NM_001844.5(COL2A1):c.4317+1G>A rs2136504667
NM_001844.5(COL2A1):c.4387_4389del (p.Ile1463del) rs527236145
NM_001844.5(COL2A1):c.604_609+2del rs2136621947

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.