ClinVar Miner

List of variants in gene COL2A1 reported as pathogenic for bone disorder

Included ClinVar conditions (1350):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 161
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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.2659C>T (p.Arg887Ter) rs1399676515 0.00001
NM_001844.5(COL2A1):c.3508G>A (p.Gly1170Ser) rs121912891 0.00001
NM_001844.5(COL2A1):c.1023+1G>C rs886043794
NM_001844.5(COL2A1):c.1023+2T>A rs2136604599
NM_001844.5(COL2A1):c.1060G>A (p.Gly354Arg) rs121912871
NM_001844.5(COL2A1):c.1068+1G>C rs2136590070
NM_001844.5(COL2A1):c.1069G>A (p.Gly357Ser) rs1423486005
NM_001844.5(COL2A1):c.1105G>C (p.Gly369Arg) rs1085307657
NM_001844.5(COL2A1):c.1114G>A (p.Gly372Arg) rs1555167783
NM_001844.5(COL2A1):c.1129G>A (p.Ala377Thr) rs1045330263
NM_001844.5(COL2A1):c.1177G>A (p.Gly393Ser) rs1025202963
NM_001844.5(COL2A1):c.1191_1199dup (p.Ser400_Gly402dup) rs672601355
NM_001844.5(COL2A1):c.1195G>A (p.Gly399Arg) rs2136579152
NM_001844.5(COL2A1):c.1222-2A>G rs2136577259
NM_001844.5(COL2A1):c.1250G>T (p.Gly417Val) rs2136577094
NM_001844.5(COL2A1):c.1258G>T (p.Gly420Ter)
NM_001844.5(COL2A1):c.1266+1G>T
NM_001844.5(COL2A1):c.1266+1del rs587776847
NM_001844.5(COL2A1):c.1267-2_1269del rs2136576211
NM_001844.5(COL2A1):c.1348G>C (p.Gly450Arg) rs2136575653
NM_001844.5(COL2A1):c.1396G>T (p.Glu466Ter)
NM_001844.5(COL2A1):c.141G>A (p.Trp47Ter) rs121912896
NM_001844.5(COL2A1):c.1420-1G>A
NM_001844.5(COL2A1):c.1420-2A>G rs794727377
NM_001844.5(COL2A1):c.1420-7_1430del rs1565683138
NM_001844.5(COL2A1):c.1421_1426del (p.Gly474_Pro475del) rs2136571551
NM_001844.5(COL2A1):c.1475G>T (p.Gly492Val) rs121912881
NM_001844.5(COL2A1):c.1492G>C (p.Gly498Arg) rs2136571005
NM_001844.5(COL2A1):c.1510G>A (p.Gly504Ser) rs121912880
NM_001844.5(COL2A1):c.1510G>T (p.Gly504Cys) rs121912880
NM_001844.5(COL2A1):c.1528-2del
NM_001844.5(COL2A1):c.1547G>A (p.Gly516Asp) rs121912888
NM_001844.5(COL2A1):c.1581+5G>A rs1408154129
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.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.1780G>A (p.Gly594Arg) rs2136564199
NM_001844.5(COL2A1):c.1802_1833+55del
NM_001844.5(COL2A1):c.1833+1G>A rs1939312423
NM_001844.5(COL2A1):c.1887+1G>A rs2136561510
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.1979G>A (p.Gly660Glu) rs1555166729
NM_001844.5(COL2A1):c.1999C>T (p.Leu667Phe) rs121912885
NM_001844.5(COL2A1):c.2005G>A (p.Gly669Ser) rs1939205327
NM_001844.5(COL2A1):c.2024G>A (p.Gly675Asp) rs1565679062
NM_001844.5(COL2A1):c.2035A>T (p.Lys679Ter) rs1565679039
NM_001844.5(COL2A1):c.2094+1G>C rs2136552560
NM_001844.5(COL2A1):c.2095G>T (p.Gly699Cys) rs2136551691
NM_001844.5(COL2A1):c.2101C>T (p.Arg701Ter) rs1555166555
NM_001844.5(COL2A1):c.2149G>A (p.Gly717Ser) rs387906558
NM_001844.5(COL2A1):c.2219del (p.Pro740fs) rs1565677720
NM_001844.5(COL2A1):c.2275G>C (p.Gly759Arg) rs2136548994
NM_001844.5(COL2A1):c.2302-1G>T
NM_001844.5(COL2A1):c.2320G>A (p.Gly774Ser) rs121912867
NM_001844.5(COL2A1):c.2353C>T (p.Arg785Ter) rs886043410
NM_001844.5(COL2A1):c.2355+1G>A rs1939124946
NM_001844.5(COL2A1):c.2381del (p.Pro794fs) rs1555166218
NM_001844.5(COL2A1):c.2491G>T (p.Gly831Ter)
NM_001844.5(COL2A1):c.2582G>A (p.Gly861Asp) rs1209546147
NM_001844.5(COL2A1):c.258C>A (p.Cys86Ter) rs794727261
NM_001844.5(COL2A1):c.2600G>T (p.Gly867Val) rs886042849
NM_001844.5(COL2A1):c.2609G>A (p.Gly870Glu) rs886041429
NM_001844.5(COL2A1):c.2617G>T (p.Gly873Trp) rs886041713
NM_001844.5(COL2A1):c.2671G>A (p.Gly891Ser) rs121912879
NM_001844.5(COL2A1):c.2671G>C (p.Gly891Arg) rs121912879
NM_001844.5(COL2A1):c.2678dup (p.Ala895fs) rs1938958532
NM_001844.5(COL2A1):c.2679+1G>A rs1592205758
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.2780G>T (p.Gly927Val)
NM_001844.5(COL2A1):c.2794C>T (p.Arg932Ter) rs121912866
NM_001844.5(COL2A1):c.2798G>A (p.Gly933Glu) rs2136528309
NM_001844.5(COL2A1):c.2814del (p.Gly939fs) rs1555165494
NM_001844.5(COL2A1):c.2818C>T (p.Arg940Ter) rs1057524114
NM_001844.5(COL2A1):c.2833G>A (p.Gly945Ser) rs886039542
NM_001844.5(COL2A1):c.2858del (p.Pro953fs) rs2136527926
NM_001844.5(COL2A1):c.2862C>T (p.Gly954=) rs367806541
NM_001844.5(COL2A1):c.2895+1G>C
NM_001844.5(COL2A1):c.2905G>A (p.Gly969Ser) rs121912878
NM_001844.5(COL2A1):c.2908_2909dup (p.Pro971fs) rs1592202517
NM_001844.5(COL2A1):c.2920del (p.Gln974fs)
NM_001844.5(COL2A1):c.2941G>A (p.Gly981Ser) rs2136526515
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.3023G>T (p.Gly1008Val) rs765795867
NM_001844.5(COL2A1):c.3077G>A (p.Gly1026Asp)
NM_001844.5(COL2A1):c.3106C>T (p.Arg1036Ter) rs748459670
NM_001844.5(COL2A1):c.3111+2T>C rs1938818395
NM_001844.5(COL2A1):c.3121G>A (p.Gly1041Ser) rs2136522964
NM_001844.5(COL2A1):c.3138del (p.Gly1047fs) rs121912873
NM_001844.5(COL2A1):c.3158G>A (p.Gly1053Glu) rs121912868
NM_001844.5(COL2A1):c.3166-1G>A rs1555165204
NM_001844.5(COL2A1):c.3220G>A (p.Gly1074Ser) rs121912864
NM_001844.5(COL2A1):c.3270_3273delinsCAGCAAGGAGACAAGGAGACAGAG (p.Glu1090fs) rs2136521006
NM_001844.5(COL2A1):c.3280C>T (p.Gln1094Ter) rs2136520087
NM_001844.5(COL2A1):c.3301G>A (p.Gly1101Arg) rs864621973
NM_001844.5(COL2A1):c.3311G>A (p.Gly1104Glu) rs886043356
NM_001844.5(COL2A1):c.3346G>T (p.Gly1116Cys) rs2136518773
NM_001844.5(COL2A1):c.3357_3358insCT (p.Glu1120fs) rs672601354
NM_001844.5(COL2A1):c.3363dup (p.Gly1122fs)
NM_001844.5(COL2A1):c.3442_3444del (p.Ser1148del) rs1938718648
NM_001844.5(COL2A1):c.3454G>C (p.Gly1152Arg) rs1592198747
NM_001844.5(COL2A1):c.3463G>A (p.Gly1155Ser)
NM_001844.5(COL2A1):c.3463G>C (p.Gly1155Arg) rs2136516744
NM_001844.5(COL2A1):c.3489+163_3597+2del rs1555164872
NM_001844.5(COL2A1):c.3490G>A (p.Gly1164Ser) rs2136514646
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.3553G>C (p.Gly1185Arg) rs1938688718
NM_001844.5(COL2A1):c.3554G>A (p.Gly1185Glu) rs2136514291
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.3589G>C (p.Gly1197Arg) rs121912870
NM_001844.5(COL2A1):c.3598-1G>A rs1592196867
NM_001844.5(COL2A1):c.3617G>C (p.Gly1206Ala)
NM_001844.5(COL2A1):c.3642del (p.Gly1215fs) rs1592196744
NM_001844.5(COL2A1):c.3655G>C (p.Asp1219His) rs760093841
NM_001844.5(COL2A1):c.3714C>A (p.Tyr1238Ter) rs1481453913
NM_001844.5(COL2A1):c.3731del (p.Ala1244fs) rs1555164735
NM_001844.5(COL2A1):c.3886+2T>C rs1592196064
NM_001844.5(COL2A1):c.3896G>A (p.Trp1299Ter) rs2136508909
NM_001844.5(COL2A1):c.3978del (p.Asn1327fs) rs2136508504
NM_001844.5(COL2A1):c.4074+1G>A rs2136507956
NM_001844.5(COL2A1):c.4085del (p.Gly1362fs)
NM_001844.5(COL2A1):c.4171T>C (p.Tyr1391His) rs2136505595
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.4317+1G>T rs2136504667
NM_001844.5(COL2A1):c.4337del (p.Gly1446fs) rs1565664375
NM_001844.5(COL2A1):c.4413_4416del (p.Gly1472fs) rs1592192920
NM_001844.5(COL2A1):c.491del (p.Pro164fs) rs1592235241
NM_001844.5(COL2A1):c.491dup (p.Gly165fs) rs1592235241
NM_001844.5(COL2A1):c.512del (p.Gly171fs)
NM_001844.5(COL2A1):c.565G>T (p.Glu189Ter)
NM_001844.5(COL2A1):c.569del (p.Lys190fs) rs2136622208
NM_001844.5(COL2A1):c.580_581del (p.Ala194fs) rs1592233968
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.655-2A>G
NM_001844.5(COL2A1):c.655G>A (p.Gly219Arg) rs1131691822
NM_001844.5(COL2A1):c.709-2A>G rs1592232116
NM_001844.5(COL2A1):c.737G>T (p.Gly246Val) rs2136616311
NM_001844.5(COL2A1):c.800G>A (p.Gly267Asp) rs121912872
NM_001844.5(COL2A1):c.817-1G>A rs2136610684
NM_001844.5(COL2A1):c.823C>T (p.Arg275Cys) rs121912876
NM_001844.5(COL2A1):c.905C>T (p.Ala302Val) rs1555168505
NM_001844.5(COL2A1):c.906_924+9del rs2136609285
NM_001844.5(COL2A1):c.908G>A (p.Gly303Asp) rs121912877
NM_001844.5(COL2A1):c.925-1G>A
NM_001844.5(COL2A1):c.952G>A (p.Gly318Arg) rs121912894
NM_001844.5(COL2A1):c.980G>T (p.Gly327Val) rs2136605023

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