ClinVar Miner

List of variants in gene COL1A2 reported by Illumina Laboratory Services, Illumina

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 124
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000089.4(COL1A2):c.936+14C>T rs42518 0.81710
NM_000089.4(COL1A2):c.937-3C>T rs42519 0.81243
NM_000089.4(COL1A2):c.1645C>G (p.Pro549Ala) rs42524 0.80779
NM_000089.4(COL1A2):c.1446A>C (p.Pro482=) rs412777 0.35874
NM_000089.4(COL1A2):c.1665+15A>G rs421587 0.28734
NM_000089.4(COL1A2):c.246T>C (p.Asp82=) rs1800222 0.25224
NM_000089.4(COL1A2):c.*194C>T rs1060399 0.20320
NM_000089.4(COL1A2):c.87T>C (p.Thr29=) rs1801182 0.12315
NM_000089.4(COL1A2):c.*804G>T rs1062394 0.09387
NM_000089.4(COL1A2):c.3712-13C>T rs74335369 0.03051
NM_000089.4(COL1A2):c.1878G>T (p.Val626=) rs1800238 0.02599
NM_000089.4(COL1A2):c.82-12A>G rs143689469 0.01736
NM_000089.4(COL1A2):c.*205A>G rs6955879 0.01322
NM_000089.3(COL1A2):c.-287C>T rs190926256 0.00907
NM_000089.4(COL1A2):c.3018C>T (p.Gly1006=) rs62001059 0.00679
NM_000089.4(COL1A2):c.1036-12A>G rs41316929 0.00613
NM_000089.4(COL1A2):c.948C>T (p.Gly316=) rs34511999 0.00566
NM_000089.4(COL1A2):c.*283T>C rs114837909 0.00448
NM_000089.4(COL1A2):c.3336C>T (p.Tyr1112=) rs34691365 0.00404
NM_000089.4(COL1A2):c.*415T>G rs148913603 0.00367
NM_000089.4(COL1A2):c.3849T>C (p.Thr1283=) rs34038163 0.00352
NM_000089.4(COL1A2):c.1036-14G>A rs114322680 0.00338
NM_000089.4(COL1A2):c.122G>A (p.Arg41His) rs139528613 0.00310
NM_000089.4(COL1A2):c.594+5A>T rs200744314 0.00220
NM_000089.4(COL1A2):c.*605A>G rs537557756 0.00181
NM_000089.4(COL1A2):c.808G>A (p.Val270Ile) rs368468 0.00177
NM_000089.4(COL1A2):c.3614G>A (p.Arg1205Gln) rs73428220 0.00167
NM_000089.4(COL1A2):c.2078G>A (p.Arg693Gln) rs34147460 0.00159
NM_000089.4(COL1A2):c.1350+11A>T rs193922160 0.00140
NM_000089.4(COL1A2):c.1383C>T (p.Pro461=) rs139726213 0.00120
NM_000089.4(COL1A2):c.2123G>A (p.Arg708Gln) rs72658163 0.00077
NM_000089.4(COL1A2):c.3313G>A (p.Gly1105Ser) rs139851311 0.00066
NM_000089.4(COL1A2):c.304C>T (p.Pro102Ser) rs189557655 0.00060
NM_000089.4(COL1A2):c.3853A>C (p.Asn1285His) rs144797861 0.00057
NM_000089.4(COL1A2):c.2425C>T (p.Pro809Ser) rs145355907 0.00032
NM_000089.4(COL1A2):c.2526C>T (p.Phe842=) rs41317725 0.00028
NM_000089.4(COL1A2):c.2163C>T (p.Gly721=) rs150670521 0.00025
NM_000089.4(COL1A2):c.3283C>T (p.Pro1095Ser) rs370608825 0.00024
NM_000089.4(COL1A2):c.892-13C>G rs200532328 0.00024
NM_000089.4(COL1A2):c.1866T>C (p.Gly622=) rs765470622 0.00019
NM_000089.3(COL1A2):c.-428G>A rs753974789 0.00016
NM_000089.4(COL1A2):c.*195C>T rs190115417 0.00016
NM_000089.4(COL1A2):c.2168A>G (p.Asn723Ser) rs189374343 0.00016
NM_000089.4(COL1A2):c.3144T>C (p.Gly1048=) rs369434464 0.00014
NM_000089.4(COL1A2):c.2904C>T (p.Pro968=) rs142352627 0.00013
NM_000089.4(COL1A2):c.*545A>G rs761806166 0.00012
NM_000089.4(COL1A2):c.2566-6A>G rs141088934 0.00012
NM_000089.4(COL1A2):c.2687C>T (p.Pro896Leu) rs202068380 0.00011
NM_000089.4(COL1A2):c.2853T>C (p.Pro951=) rs148362963 0.00010
NM_000089.4(COL1A2):c.2456G>A (p.Arg819His) rs773985005 0.00008
NM_000089.4(COL1A2):c.*131G>T rs777448399 0.00007
NM_000089.4(COL1A2):c.1564C>T (p.Pro522Ser) rs199732595 0.00007
NM_000089.4(COL1A2):c.2025+9A>G rs368837694 0.00007
NM_000089.4(COL1A2):c.3047C>A (p.Pro1016His) rs377278762 0.00006
NM_000089.4(COL1A2):c.3632T>C (p.Ile1211Thr) rs201746779 0.00006
NM_000089.4(COL1A2):c.671G>A (p.Arg224His) rs771139732 0.00006
NM_000089.4(COL1A2):c.1555C>T (p.Arg519Trp) rs151256720 0.00005
NM_000089.4(COL1A2):c.3870C>T (p.Val1290=) rs926855674 0.00005
NM_000089.4(COL1A2):c.526T>C (p.Phe176Leu) rs370234887 0.00005
NM_000089.4(COL1A2):c.1051G>A (p.Ala351Thr) rs755610740 0.00004
NM_000089.4(COL1A2):c.48C>T (p.Thr16=) rs780687409 0.00004
NM_000089.4(COL1A2):c.783T>C (p.Pro261=) rs200436925 0.00004
NM_000089.4(COL1A2):c.*584A>T rs1469558350 0.00003
NM_000089.4(COL1A2):c.*601A>G rs1031022615 0.00003
NM_000089.4(COL1A2):c.1870C>G (p.Pro624Ala) rs886062517 0.00003
NM_000089.4(COL1A2):c.3014G>A (p.Arg1005His) rs200357942 0.00003
NM_000089.4(COL1A2):c.3754A>G (p.Thr1252Ala) rs761465504 0.00003
NM_000089.4(COL1A2):c.3493G>A (p.Asp1165Asn) rs754149044 0.00002
NM_000089.3(COL1A2):c.-188C>T rs886062512 0.00001
NM_000089.4(COL1A2):c.*193C>T rs1025438678 0.00001
NM_000089.4(COL1A2):c.*465G>T rs937283468 0.00001
NM_000089.4(COL1A2):c.*814A>G rs1584334060 0.00001
NM_000089.4(COL1A2):c.1089C>T (p.Pro363=) rs748961276 0.00001
NM_000089.4(COL1A2):c.1611+9T>A rs200333208 0.00001
NM_000089.4(COL1A2):c.1686T>A (p.Gly562=) rs1394933873 0.00001
NM_000089.4(COL1A2):c.1971+5G>A rs375027186 0.00001
NM_000089.4(COL1A2):c.279+12T>C rs751199493 0.00001
NM_000089.4(COL1A2):c.2861T>C (p.Ile954Thr) rs538844573 0.00001
NM_000089.4(COL1A2):c.298G>A (p.Gly100Ser) rs1410254723 0.00001
NM_000089.4(COL1A2):c.3741C>T (p.Ser1247=) rs1792349319 0.00001
NM_000089.4(COL1A2):c.384T>A (p.Pro128=) rs767043956 0.00001
NM_000089.4(COL1A2):c.3883T>C (p.Ser1295Pro) rs757449082 0.00001
NM_000089.4(COL1A2):c.3954T>C (p.Ser1318=) rs781599112 0.00001
NM_000089.4(COL1A2):c.3987T>G (p.Ile1329Met) rs923309099 0.00001
NM_000089.4(COL1A2):c.693+12C>A rs767990110 0.00001
NM_000089.4(COL1A2):c.81+8A>C rs765118884 0.00001
NM_000089.3(COL1A2):c.-150G>C rs1584310114
NM_000089.3(COL1A2):c.-152G>A rs769123288
NM_000089.3(COL1A2):c.-194C>T rs1180929889
NM_000089.3(COL1A2):c.-204T>G rs908653050
NM_000089.3(COL1A2):c.-264C>A rs182924222
NM_000089.3(COL1A2):c.-365A>G rs886062511
NM_000089.3(COL1A2):c.-397A>T rs1791544304
NM_000089.3(COL1A2):c.-418G>A rs939882798
NM_000089.4(COL1A2):c.*329A>G rs1235561698
NM_000089.4(COL1A2):c.*469A>G rs1792387263
NM_000089.4(COL1A2):c.*561T>C rs1792389230
NM_000089.4(COL1A2):c.*618T>C rs557107553
NM_000089.4(COL1A2):c.*638C>T rs1792391514
NM_000089.4(COL1A2):c.*654_*655insGTTGTCC rs3917
NM_000089.4(COL1A2):c.-87C>T rs886062513
NM_000089.4(COL1A2):c.1036-14G>T rs114322680
NM_000089.4(COL1A2):c.114A>G (p.Arg38=) rs1462108134
NM_000089.4(COL1A2):c.1186C>T (p.Pro396Ser) rs886062515
NM_000089.4(COL1A2):c.1252-6del rs886062516
NM_000089.4(COL1A2):c.1446A>T (p.Pro482=) rs412777
NM_000089.4(COL1A2):c.2082C>A (p.Gly694=) rs193229878
NM_000089.4(COL1A2):c.2187+14A>G rs1792135004
NM_000089.4(COL1A2):c.2563G>A (p.Ala855Thr) rs541473356
NM_000089.4(COL1A2):c.2569C>A (p.Pro857Thr) rs150179964
NM_000089.4(COL1A2):c.2569C>T (p.Pro857Ser) rs150179964
NM_000089.4(COL1A2):c.2894C>G (p.Pro965Arg) rs1437648908
NM_000089.4(COL1A2):c.3106-11T>C rs1792292305
NM_000089.4(COL1A2):c.3135C>T (p.Gly1045=) rs1800248
NM_000089.4(COL1A2):c.3211C>A (p.Pro1071Thr) rs886062518
NM_000089.4(COL1A2):c.3226C>T (p.Pro1076Ser) rs763974489
NM_000089.4(COL1A2):c.3270C>G (p.Gly1090=) rs548761767
NM_000089.4(COL1A2):c.3699T>C (p.Asn1233=) rs1792333529
NM_000089.4(COL1A2):c.3809A>G (p.Tyr1270Cys) rs886062519
NM_000089.4(COL1A2):c.3898C>T (p.Leu1300Phe) rs1725653924
NM_000089.4(COL1A2):c.475G>A (p.Val159Ile) rs886062514
NM_000089.4(COL1A2):c.654_655insA (p.Pro219fs) rs1562900240
NM_000089.4(COL1A2):c.71C>G (p.Ser24Cys) rs763546006
NM_000089.4(COL1A2):c.776G>C (p.Gly259Ala) rs1584318648

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.