ClinVar Miner

List of variants in gene COL2A1 reported as uncertain significance for bone disorder

Included ClinVar conditions (1346):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 112
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001844.5(COL2A1):c.*305G>A rs532700241 0.00516
NM_001844.5(COL2A1):c.85+10C>G rs769941617 0.00128
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.195C>T (p.Asp65=) rs202210896 0.00056
NM_001844.5(COL2A1):c.1366-13C>A rs200984998 0.00055
NM_001844.5(COL2A1):c.1300C>T (p.Pro434Ser) rs140985224 0.00053
NM_001844.5(COL2A1):c.3736G>A (p.Gly1246Ser) rs147569641 0.00046
NM_001844.5(COL2A1):c.4074+12G>T rs201312340 0.00046
NM_001844.5(COL2A1):c.4350C>T (p.Ile1450=) rs137948104 0.00046
NM_001844.5(COL2A1):c.2819G>A (p.Arg940Gln) rs533540496 0.00038
NM_001844.5(COL2A1):c.4116C>T (p.Asn1372=) rs150237416 0.00035
NM_001844.5(COL2A1):c.1634A>G (p.Asn545Ser) rs145042175 0.00024
NM_001844.5(COL2A1):c.803C>T (p.Pro268Leu) rs142770543 0.00019
NM_001844.5(COL2A1):c.4064G>A (p.Gly1355Asp) rs201646745 0.00016
NM_001844.5(COL2A1):c.*158C>A rs867067070 0.00015
NM_001844.5(COL2A1):c.246C>T (p.Phe82=) rs142161948 0.00014
NM_001844.5(COL2A1):c.550G>A (p.Ala184Thr) rs201817670 0.00012
NM_001844.5(COL2A1):c.3007G>A (p.Glu1003Lys) rs376772481 0.00009
NM_001844.5(COL2A1):c.3047G>A (p.Arg1016Lys) rs146046296 0.00009
NM_001844.5(COL2A1):c.2949C>T (p.Val983=) rs201719788 0.00007
NM_001844.5(COL2A1):c.*373G>C rs990523451 0.00006
NM_001844.5(COL2A1):c.3713A>C (p.Tyr1238Ser) rs199726428 0.00006
NM_001844.5(COL2A1):c.1680+8G>T rs754310324 0.00005
NM_001844.5(COL2A1):c.1680+9C>A rs371857655 0.00005
NM_001844.5(COL2A1):c.4316C>T (p.Thr1439Met) rs121912886 0.00005
NM_001844.5(COL2A1):c.4375C>T (p.Arg1459Cys) rs148838496 0.00005
NM_001844.5(COL2A1):c.4448C>T (p.Pro1483Leu) rs376442872 0.00005
NM_001844.5(COL2A1):c.3120C>T (p.Pro1040=) rs367982631 0.00004
NM_001844.5(COL2A1):c.1498G>A (p.Val500Ile) rs768110640 0.00003
NM_001844.5(COL2A1):c.3385C>T (p.Leu1129=) rs745633496 0.00003
NM_001844.5(COL2A1):c.3505G>A (p.Val1169Ile) rs760390497 0.00003
NM_001844.5(COL2A1):c.3663C>T (p.Ser1221=) rs2276459 0.00003
NM_001844.5(COL2A1):c.4117G>A (p.Val1373Ile) rs778382364 0.00003
NM_001844.5(COL2A1):c.4432G>A (p.Gly1478Ser) rs1400762548 0.00003
NM_001844.5(COL2A1):c.708+14C>T rs769173275 0.00003
NM_001844.5(COL2A1):c.798G>A (p.Arg266=) rs376753701 0.00003
NM_001844.5(COL2A1):c.*331G>A rs1227723645 0.00002
NM_001844.5(COL2A1):c.1659A>G (p.Glu553=) rs756360655 0.00002
NM_001844.5(COL2A1):c.4250A>G (p.Asn1417Ser) rs537186508 0.00002
NM_001844.5(COL2A1):c.446G>A (p.Arg149His) rs763538232 0.00002
NM_001844.5(COL2A1):c.-15G>T rs886049450 0.00001
NM_001844.5(COL2A1):c.1057G>A (p.Ala353Thr) rs781554389 0.00001
NM_001844.5(COL2A1):c.1757G>A (p.Arg586His) rs371440147 0.00001
NM_001844.5(COL2A1):c.1855G>A (p.Glu619Lys) rs1431778644 0.00001
NM_001844.5(COL2A1):c.1938T>C (p.Pro646=) rs368641858 0.00001
NM_001844.5(COL2A1):c.1941+18C>T rs753819738 0.00001
NM_001844.5(COL2A1):c.2281G>A (p.Ala761Thr) rs751436440 0.00001
NM_001844.5(COL2A1):c.2286G>A (p.Gly762=) rs371835359 0.00001
NM_001844.5(COL2A1):c.2304T>C (p.Gly768=) rs925297712 0.00001
NM_001844.5(COL2A1):c.2410-11C>T rs886049447 0.00001
NM_001844.5(COL2A1):c.2522C>T (p.Ala841Val) rs762619684 0.00001
NM_001844.5(COL2A1):c.2795G>A (p.Arg932Gln) rs570320774 0.00001
NM_001844.5(COL2A1):c.2805C>T (p.Ser935=) rs948633441 0.00001
NM_001844.5(COL2A1):c.2909C>T (p.Pro970Leu) rs371268468 0.00001
NM_001844.5(COL2A1):c.3111+5G>A rs1429492734 0.00001
NM_001844.5(COL2A1):c.3160G>A (p.Val1054Ile) rs371635111 0.00001
NM_001844.5(COL2A1):c.3244A>G (p.Thr1082Ala) rs886049446 0.00001
NM_001844.5(COL2A1):c.3397C>T (p.Arg1133Cys) rs1938732355 0.00001
NM_001844.5(COL2A1):c.3494C>T (p.Pro1165Leu) rs374156023 0.00001
NM_001844.5(COL2A1):c.3575G>A (p.Arg1192Gln) rs779252535 0.00001
NM_001844.5(COL2A1):c.3702C>A (p.Asp1234Glu) rs891008017 0.00001
NM_001844.5(COL2A1):c.4093A>T (p.Asn1365Tyr) rs202105427 0.00001
NM_001844.5(COL2A1):c.4264C>T (p.Arg1422Trp) rs754466377 0.00001
NM_001844.5(COL2A1):c.4343C>G (p.Thr1448Ser) rs1481212897 0.00001
NM_001844.5(COL2A1):c.512G>T (p.Gly171Val) rs928430270 0.00001
NM_001844.5(COL2A1):c.711T>A (p.Gly237=) rs764487245 0.00001
NM_001844.5(COL2A1):c.778C>T (p.Pro260Ser) rs1470645150 0.00001
NM_001844.5(COL2A1):c.968T>A (p.Met323Lys) rs1380248932 0.00001
NM_001844.5(COL2A1):c.*120C>G rs886049443
NM_001844.5(COL2A1):c.*131C>T rs886049442
NM_001844.5(COL2A1):c.*406A>G rs886049441
NM_001844.5(COL2A1):c.1049C>T (p.Pro350Leu) rs886049448
NM_001844.5(COL2A1):c.1068+4del rs2136590056
NM_001844.5(COL2A1):c.1077C>G (p.Val359=) rs202002349
NM_001844.5(COL2A1):c.12C>T (p.Leu4=) rs886049449
NM_001844.5(COL2A1):c.1339G>A (p.Gly447Ser)
NM_001844.5(COL2A1):c.1453G>A (p.Ala485Thr) rs556023617
NM_001844.5(COL2A1):c.1513C>T (p.Pro505Ser) rs865903887
NM_001844.5(COL2A1):c.1581+4_1581+7del rs1565682292
NM_001844.5(COL2A1):c.1649G>T (p.Arg550Leu) rs186233557
NM_001844.5(COL2A1):c.1734+4del rs2136566434
NM_001844.5(COL2A1):c.1995+5G>A rs1449516565
NM_001844.5(COL2A1):c.2050G>T (p.Gly684Cys) rs1231988113
NM_001844.5(COL2A1):c.2111dup (p.Gly705fs) rs1939177362
NM_001844.5(COL2A1):c.2410-13T>G rs574507277
NM_001844.5(COL2A1):c.2618G>T (p.Gly873Val) rs886042009
NM_001844.5(COL2A1):c.2633C>T (p.Thr878Ile) rs1938961773
NM_001844.5(COL2A1):c.2660G>A (p.Arg887Gln) rs2136534972
NM_001844.5(COL2A1):c.2719C>T (p.Pro907Ser) rs1398589070
NM_001844.5(COL2A1):c.2806G>A (p.Gly936Ser) rs777615798
NM_001844.5(COL2A1):c.3180_3188del (p.Glu1060_Ala1063delinsAsp)
NM_001844.5(COL2A1):c.3308C>G (p.Ala1103Gly) rs1180226091
NM_001844.5(COL2A1):c.3435+4_3435+7del
NM_001844.5(COL2A1):c.3626G>A (p.Gly1209Asp)
NM_001844.5(COL2A1):c.3635G>C (p.Gly1212Ala) rs1555164786
NM_001844.5(COL2A1):c.3659T>C (p.Met1220Thr) rs886049445
NM_001844.5(COL2A1):c.3690G>C (p.Glu1230Asp) rs1347381176
NM_001844.5(COL2A1):c.3808C>T (p.Arg1270Cys) rs886049444
NM_001844.5(COL2A1):c.3950T>G (p.Met1317Arg) rs1555164561
NM_001844.5(COL2A1):c.4135C>T (p.Arg1379Cys) rs141951587
NM_001844.5(COL2A1):c.4317+9G>C rs1938570357
NM_001844.5(COL2A1):c.4337del (p.Gly1446fs) rs1565664375
NM_001844.5(COL2A1):c.4464A>T (p.Ter1488Tyr)
NM_001844.5(COL2A1):c.511G>C (p.Gly171Arg) rs958614345
NM_001844.5(COL2A1):c.532-3C>A rs755887776
NM_001844.5(COL2A1):c.626G>A (p.Arg209Gln)
NM_001844.5(COL2A1):c.661C>T (p.Gln221Ter)
NM_001844.5(COL2A1):c.754G>A (p.Gly252Ser) rs2136616123
NM_001844.5(COL2A1):c.924+14A>C rs1475810942
NM_001844.5(COL2A1):c.944G>A (p.Gly315Asp)
NM_001844.5(COL2A1):c.970-6T>C

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.