ClinVar Miner

List of variants in gene COL2A1 reported as pathogenic by GeneDx

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 113
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001844.5(COL2A1):c.2155C>T (p.Arg719Cys) rs121912865 0.00001
NM_001844.5(COL2A1):c.2659C>T (p.Arg887Ter) rs1399676515 0.00001
NM_001844.5(COL2A1):c.1023+1G>A rs886043794
NM_001844.5(COL2A1):c.1030C>T (p.Arg344Ter) rs1565686896
NM_001844.5(COL2A1):c.1105G>C (p.Gly369Arg) rs1085307657
NM_001844.5(COL2A1):c.1132G>A (p.Gly378Ser) rs2136579628
NM_001844.5(COL2A1):c.115C>T (p.Gln39Ter) rs1940161368
NM_001844.5(COL2A1):c.1221+1G>A rs1399741348
NM_001844.5(COL2A1):c.1268G>A (p.Gly423Asp) rs1555167449
NM_001844.5(COL2A1):c.1299_1302del (p.Phe433fs) rs1555167439
NM_001844.5(COL2A1):c.1330G>A (p.Gly444Ser) rs1064796332
NM_001844.5(COL2A1):c.1331_1340del (p.Gly444fs) rs2136575705
NM_001844.5(COL2A1):c.1358G>A (p.Gly453Asp) rs794727339
NM_001844.5(COL2A1):c.1369G>T (p.Glu457Ter) rs1555167368
NM_001844.5(COL2A1):c.1399C>T (p.Gln467Ter) rs1565683713
NM_001844.5(COL2A1):c.1510G>A (p.Gly504Ser) rs121912880
NM_001844.5(COL2A1):c.1518del (p.Gly507fs) rs2136570799
NM_001844.5(COL2A1):c.1525_1527delinsTGTGACC (p.Arg509fs) rs1592218614
NM_001844.5(COL2A1):c.1527+135G>A rs1592218346
NM_001844.5(COL2A1):c.1546G>A (p.Gly516Ser) rs886041895
NM_001844.5(COL2A1):c.1556del (p.Gly519fs) rs1555167140
NM_001844.5(COL2A1):c.156C>A (p.Cys52Ter) rs1246771678
NM_001844.5(COL2A1):c.1597C>T (p.Arg533Ter) rs1085307608
NM_001844.5(COL2A1):c.1636G>A (p.Gly546Ser) rs886044555
NM_001844.5(COL2A1):c.1680+1G>C rs1057524696
NM_001844.5(COL2A1):c.1681-1dup rs1555167067
NM_001844.5(COL2A1):c.1693C>T (p.Arg565Cys) rs121912884
NM_001844.5(COL2A1):c.1742del (p.Pro581fs) rs2136564400
NM_001844.5(COL2A1):c.1744G>A (p.Gly582Ser)
NM_001844.5(COL2A1):c.1816G>C (p.Gly606Arg) rs886041945
NM_001844.5(COL2A1):c.1833+1G>A rs1939312423
NM_001844.5(COL2A1):c.1925G>T (p.Gly642Val) rs1057524602
NM_001844.5(COL2A1):c.192C>A (p.Cys64Ter) rs121912897
NM_001844.5(COL2A1):c.1934G>A (p.Gly645Asp) rs1592214400
NM_001844.5(COL2A1):c.1957C>T (p.Arg653Ter) rs121912893
NM_001844.5(COL2A1):c.1969G>T (p.Gly657Cys) rs1269619781
NM_001844.5(COL2A1):c.1996-1G>A rs886041935
NM_001844.5(COL2A1):c.1996G>A (p.Gly666Arg) rs2136555177
NM_001844.5(COL2A1):c.1A>G (p.Met1Val) rs2136652928
NM_001844.5(COL2A1):c.2014G>T (p.Gly672Cys) rs2136555019
NM_001844.5(COL2A1):c.2059G>A (p.Gly687Ser) rs1939189846
NM_001844.5(COL2A1):c.2101C>T (p.Arg701Ter) rs1555166555
NM_001844.5(COL2A1):c.2131G>C (p.Gly711Arg)
NM_001844.5(COL2A1):c.2132G>A (p.Gly711Asp) rs2136551433
NM_001844.5(COL2A1):c.2195G>A (p.Gly732Asp) rs1555166457
NM_001844.5(COL2A1):c.2213G>T (p.Gly738Val) rs1367822001
NM_001844.5(COL2A1):c.2288_2290delinsTCT (p.Pro763_Lys764delinsLeuTer) rs2136548888
NM_001844.5(COL2A1):c.2347G>A (p.Gly783Ser) rs2136546628
NM_001844.5(COL2A1):c.2353C>T (p.Arg785Ter) rs886043410
NM_001844.5(COL2A1):c.2381del (p.Pro794fs) rs1555166218
NM_001844.5(COL2A1):c.2490dup (p.Gly831fs) rs1273496827
NM_001844.5(COL2A1):c.2491G>A (p.Gly831Arg) rs1064796660
NM_001844.5(COL2A1):c.2536G>A (p.Gly846Arg) rs886042043
NM_001844.5(COL2A1):c.2566C>T (p.Gln856Ter) rs1565674604
NM_001844.5(COL2A1):c.258C>A (p.Cys86Ter) rs794727261
NM_001844.5(COL2A1):c.25_26delinsTA (p.Thr9Ter) rs1131691546
NM_001844.5(COL2A1):c.2609G>T (p.Gly870Val) rs886041429
NM_001844.5(COL2A1):c.2617G>T (p.Gly873Trp) rs886041713
NM_001844.5(COL2A1):c.2618G>A (p.Gly873Glu) rs886042009
NM_001844.5(COL2A1):c.261dup (p.Ile88fs) rs1592238899
NM_001844.5(COL2A1):c.2678del (p.Pro893fs) rs1938958532
NM_001844.5(COL2A1):c.2710C>T (p.Arg904Cys) rs121912882
NM_001844.5(COL2A1):c.2759dup (p.Gly921fs)
NM_001844.5(COL2A1):c.2794C>T (p.Arg932Ter) rs121912866
NM_001844.5(COL2A1):c.2813del (p.Pro938fs) rs886039543
NM_001844.5(COL2A1):c.2814del (p.Gly939fs) rs1555165494
NM_001844.5(COL2A1):c.2818C>T (p.Arg940Ter) rs1057524114
NM_001844.5(COL2A1):c.2825G>A (p.Gly942Asp) rs886041914
NM_001844.5(COL2A1):c.2833G>A (p.Gly945Ser) rs886039542
NM_001844.5(COL2A1):c.2862C>T (p.Gly954=) rs367806541
NM_001844.5(COL2A1):c.2887G>A (p.Gly963Ser) rs1215825701
NM_001844.5(COL2A1):c.2962C>T (p.Gln988Ter)
NM_001844.5(COL2A1):c.2965C>T (p.Arg989Cys) rs121912874
NM_001844.5(COL2A1):c.3004-1G>A rs2136525334
NM_001844.5(COL2A1):c.3047_3056dup (p.Gly1020fs) rs2136525064
NM_001844.5(COL2A1):c.3106C>T (p.Arg1036Ter) rs748459670
NM_001844.5(COL2A1):c.3121G>A (p.Gly1041Ser) rs2136522964
NM_001844.5(COL2A1):c.3138del (p.Gly1047fs) rs121912873
NM_001844.5(COL2A1):c.3156dup (p.Gly1053fs) rs1057518157
NM_001844.5(COL2A1):c.3203G>A (p.Gly1068Glu) rs1555165195
NM_001844.5(COL2A1):c.3280C>T (p.Gln1094Ter) rs2136520087
NM_001844.5(COL2A1):c.3334C>T (p.Gln1112Ter) rs2136518839
NM_001844.5(COL2A1):c.3356del (p.Gly1119fs) rs1555165110
NM_001844.5(COL2A1):c.3381_3382del (p.Gly1128fs) rs1592199296
NM_001844.5(COL2A1):c.3401G>A (p.Gly1134Asp)
NM_001844.5(COL2A1):c.3427G>A (p.Gly1143Ser) rs2136518157
NM_001844.5(COL2A1):c.3574C>T (p.Arg1192Ter) rs886042651
NM_001844.5(COL2A1):c.3589G>A (p.Gly1197Ser) rs121912870
NM_001844.5(COL2A1):c.3597+1G>A rs1555164874
NM_001844.5(COL2A1):c.3624del (p.Gly1209fs) rs1555164789
NM_001844.5(COL2A1):c.3627_3644del (p.1205PGP[2]) rs2136512373
NM_001844.5(COL2A1):c.3896G>A (p.Trp1299Ter) rs2136508909
NM_001844.5(COL2A1):c.4008G>A (p.Trp1336Ter) rs1565666048
NM_001844.5(COL2A1):c.4011G>A (p.Trp1337Ter)
NM_001844.5(COL2A1):c.402dup (p.Gly135fs) rs2136627628
NM_001844.5(COL2A1):c.4068dup (p.Phe1357fs) rs2136508009
NM_001844.5(COL2A1):c.406del (p.Asp136fs)
NM_001844.5(COL2A1):c.4074+1G>A rs2136507956
NM_001844.5(COL2A1):c.4074+2T>G
NM_001844.5(COL2A1):c.485del (p.Gly162fs) rs2136626297
NM_001844.5(COL2A1):c.504_505delinsA (p.Pro170fs) rs1592235212
NM_001844.5(COL2A1):c.519del (p.Gly174fs) rs1592235124
NM_001844.5(COL2A1):c.531+1G>A
NM_001844.5(COL2A1):c.544C>T (p.Gln182Ter) rs886041843
NM_001844.5(COL2A1):c.625C>T (p.Arg209Ter) rs121912869
NM_001844.5(COL2A1):c.654+1G>A rs2136618972
NM_001844.5(COL2A1):c.655G>A (p.Gly219Arg) rs1131691822
NM_001844.5(COL2A1):c.709-1G>A rs2136616554
NM_001844.5(COL2A1):c.719G>A (p.Gly240Asp) rs1592232040
NM_001844.5(COL2A1):c.823C>T (p.Arg275Cys) rs121912876
NM_001844.5(COL2A1):c.85+1G>T rs727503882
NM_001844.5(COL2A1):c.870+1G>A rs2136610457
NM_001844.5(COL2A1):c.905C>T (p.Ala302Val) rs1555168505

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.