ClinVar Miner

List of variants in gene COL1A2 reported as likely pathogenic for bone disorder

Included ClinVar conditions (1416):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 228
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HGVS dbSNP gnomAD frequency
NM_000089.4(COL1A2):c.2957C>T (p.Pro986Leu) rs768171831 0.00005
NM_000089.4(COL1A2):c.2380C>T (p.Arg794Trp) rs759251034 0.00003
NM_000089.4(COL1A2):c.2827G>A (p.Gly943Arg) rs193922165 0.00003
NM_000089.4(COL1A2):c.2711G>C (p.Gly904Ala) rs775246283 0.00002
NM_000089.4(COL1A2):c.2755G>A (p.Gly919Ser) rs749621872 0.00002
NM_000089.4(COL1A2):c.614G>C (p.Gly205Ala) rs1443518475 0.00002
NM_000089.4(COL1A2):c.647G>A (p.Arg216His) rs756743425 0.00002
NM_000089.4(COL1A2):c.1522G>A (p.Gly508Ser) rs769600024 0.00001
NM_000089.4(COL1A2):c.2531G>C (p.Gly844Ala) rs928361235 0.00001
NM_000089.4(COL1A2):c.2737G>A (p.Gly913Ser) rs1305819869 0.00001
NM_000089.4(COL1A2):c.308G>A (p.Gly103Asp) rs1791755938 0.00001
NM_000089.4(COL1A2):c.704G>A (p.Gly235Asp) rs1791847482 0.00001
NM_000089.4(COL1A2):c.910G>A (p.Gly304Ser) rs1054264002 0.00001
NM_000089.4(COL1A2):c.946G>A (p.Gly316Ser) rs72656392 0.00001
NC_000007.13:g.[94023928_94036950del;94039083_94045769dup]
NC_000007.14:g.(?_94402140)_(94406279_?)del
NM_000089.4(COL1A2):c.1001G>A (p.Gly334Asp) rs1584319418
NM_000089.4(COL1A2):c.1054G>A (p.Gly352Ser) rs1064796419
NM_000089.4(COL1A2):c.1072G>A (p.Gly358Ser) rs66619856
NM_000089.4(COL1A2):c.1081G>T (p.Gly361Cys) rs1791894410
NM_000089.4(COL1A2):c.1089+1G>A rs2484709149
NM_000089.4(COL1A2):c.1136G>C (p.Gly379Ala) rs121912912
NM_000089.4(COL1A2):c.1171G>A (p.Gly391Ser) rs67707918
NM_000089.4(COL1A2):c.1171G>C (p.Gly391Arg) rs67707918
NM_000089.4(COL1A2):c.1207G>T (p.Gly403Cys)
NM_000089.4(COL1A2):c.1208G>T (p.Gly403Val) rs1554396271
NM_000089.4(COL1A2):c.1216G>T (p.Gly406Cys)
NM_000089.4(COL1A2):c.1216_1218del (p.Gly406del) rs1791907178
NM_000089.4(COL1A2):c.1235G>T (p.Gly412Val) rs1554396283
NM_000089.4(COL1A2):c.1342G>C (p.Gly448Arg) rs1584320605
NM_000089.4(COL1A2):c.1343G>A (p.Gly448Glu) rs72658116
NM_000089.4(COL1A2):c.1391AAG[1] (p.Glu465del) rs1791941199
NM_000089.4(COL1A2):c.1405G>A (p.Gly469Ser) rs2484713570
NM_000089.4(COL1A2):c.1406G>C (p.Gly469Ala) rs72658119
NM_000089.4(COL1A2):c.1423G>A (p.Gly475Ser) rs755058199
NM_000089.4(COL1A2):c.1424G>T (p.Gly475Val) rs1791951769
NM_000089.4(COL1A2):c.1432G>T (p.Gly478Cys) rs2484713609
NM_000089.4(COL1A2):c.1459G>C (p.Gly487Arg)
NM_000089.4(COL1A2):c.1477G>C (p.Gly493Arg) rs1554396612
NM_000089.4(COL1A2):c.1496G>C (p.Gly499Ala) rs72658122
NM_000089.4(COL1A2):c.1503+1G>A rs1554396615
NM_000089.4(COL1A2):c.1504-2A>G rs2484714499
NM_000089.4(COL1A2):c.1504G>A (p.Gly502Ser) rs121912910
NM_000089.4(COL1A2):c.1505G>A (p.Gly502Asp) rs2484714503
NM_000089.4(COL1A2):c.1514G>C (p.Gly505Ala) rs1554396680
NM_000089.4(COL1A2):c.1531G>T (p.Gly511Cys) rs72658125
NM_000089.4(COL1A2):c.1541G>A (p.Gly514Asp)
NM_000089.4(COL1A2):c.1543_1551dup (p.Gly517_Ala518insLeuAlaGly)
NM_000089.4(COL1A2):c.1577G>T (p.Gly526Val)
NM_000089.4(COL1A2):c.1604G>T (p.Gly535Val)
NM_000089.4(COL1A2):c.1612G>A (p.Gly538Ser) rs866589638
NM_000089.4(COL1A2):c.1630G>T (p.Gly544Cys) rs72658134
NM_000089.4(COL1A2):c.1631G>C (p.Gly544Ala) rs72658135
NM_000089.4(COL1A2):c.1640G>T (p.Gly547Val)
NM_000089.4(COL1A2):c.1657G>T (p.Gly553Cys) rs2484716097
NM_000089.4(COL1A2):c.1667G>T (p.Gly556Val) rs1584322737
NM_000089.4(COL1A2):c.1764+1G>T rs72658140
NM_000089.4(COL1A2):c.1765-2del rs2484719729
NM_000089.4(COL1A2):c.1775G>A (p.Gly592Asp) rs2484719766
NM_000089.4(COL1A2):c.1793G>A (p.Gly598Asp) rs72658142
NM_000089.4(COL1A2):c.1793G>C (p.Gly598Ala) rs72658142
NM_000089.4(COL1A2):c.1810G>A (p.Gly604Ser)
NM_000089.4(COL1A2):c.1811G>A (p.Gly604Asp) rs2115917059
NM_000089.4(COL1A2):c.1820G>C (p.Gly607Ala) rs1792043985
NM_000089.4(COL1A2):c.1828G>A (p.Gly610Ser)
NM_000089.4(COL1A2):c.1837G>A (p.Gly613Arg) rs1792044352
NM_000089.4(COL1A2):c.1838G>A (p.Gly613Glu) rs2115917195
NM_000089.4(COL1A2):c.1854_1856del (p.Asp618_Gly619delinsGlu) rs2115917306
NM_000089.4(COL1A2):c.1864G>T (p.Gly622Cys) rs2115921275
NM_000089.4(COL1A2):c.1865G>T (p.Gly622Val) rs2115921279
NM_000089.4(COL1A2):c.1873G>A (p.Gly625Ser) rs193922162
NM_000089.4(COL1A2):c.1873G>T (p.Gly625Cys) rs193922162
NM_000089.4(COL1A2):c.1874G>C (p.Gly625Ala) rs72658145
NM_000089.4(COL1A2):c.1927G>A (p.Gly643Arg) rs2484721857
NM_000089.4(COL1A2):c.1937G>T (p.Gly646Val) rs72658150
NM_000089.4(COL1A2):c.1972-1G>T rs2115924241
NM_000089.4(COL1A2):c.1991G>A (p.Gly664Asp) rs72658154
NM_000089.4(COL1A2):c.1999G>T (p.Gly667Cys) rs1554397369
NM_000089.4(COL1A2):c.2008G>A (p.Gly670Ser) rs2484722826
NM_000089.4(COL1A2):c.2010_2013delinsG (p.Arg671del) rs2484722838
NM_000089.4(COL1A2):c.2025+6T>C
NM_000089.4(COL1A2):c.2026-2A>G rs111662392
NM_000089.4(COL1A2):c.2035G>A (p.Gly679Ser) rs1584325552
NM_000089.4(COL1A2):c.2036G>C (p.Gly679Ala) rs2115927860
NM_000089.4(COL1A2):c.2053G>A (p.Gly685Ser)
NM_000089.4(COL1A2):c.2053G>T (p.Gly685Cys) rs2484724027
NM_000089.4(COL1A2):c.2063G>A (p.Gly688Glu) rs1792108068
NM_000089.4(COL1A2):c.2072G>A (p.Gly691Asp) rs1792108270
NM_000089.4(COL1A2):c.2080G>A (p.Gly694Ser) rs121912908
NM_000089.4(COL1A2):c.2107G>T (p.Gly703Cys) rs1562905085
NM_000089.4(COL1A2):c.2161G>T (p.Gly721Cys) rs72658169
NM_000089.4(COL1A2):c.2179G>C (p.Gly727Arg) rs2484725490
NM_000089.4(COL1A2):c.2179G>T (p.Gly727Cys)
NM_000089.4(COL1A2):c.2206G>A (p.Gly736Ser)
NM_000089.4(COL1A2):c.2225G>A (p.Gly742Glu) rs2115931969
NM_000089.4(COL1A2):c.2225G>C (p.Gly742Ala)
NM_000089.4(COL1A2):c.2234G>A (p.Gly745Glu)
NM_000089.4(COL1A2):c.2242G>A (p.Gly748Ser) rs1562905246
NM_000089.4(COL1A2):c.2270G>A (p.Gly757Asp) rs72658178
NM_000089.4(COL1A2):c.2279G>T (p.Gly760Val) rs1792140624
NM_000089.4(COL1A2):c.2288G>A (p.Gly763Asp) rs72658179
NM_000089.4(COL1A2):c.2295+5G>A rs2115932392
NM_000089.4(COL1A2):c.2297G>A (p.Gly766Asp) rs72658183
NM_000089.4(COL1A2):c.2306G>T (p.Gly769Val) rs72658184
NM_000089.4(COL1A2):c.2314G>A (p.Gly772Ser) rs72658185
NM_000089.4(COL1A2):c.2314G>C (p.Gly772Arg) rs72658185
NM_000089.4(COL1A2):c.2330GTG[3] (p.Gly778_Asp779insGly) rs2484726571
NM_000089.4(COL1A2):c.2333G>C (p.Gly778Ala) rs2115933783
NM_000089.4(COL1A2):c.2404G>A (p.Gly802Ser) rs2484729335
NM_000089.4(COL1A2):c.2405G>T (p.Gly802Val) rs1562906013
NM_000089.4(COL1A2):c.2427_2435dup (p.Pro812_Ala813insProGlyPro) rs2484729358
NM_000089.4(COL1A2):c.242A>G (p.Tyr81Cys)
NM_000089.4(COL1A2):c.2441G>A (p.Gly814Glu) rs1554397975
NM_000089.4(COL1A2):c.2449G>T (p.Gly817Trp) rs2115941022
NM_000089.4(COL1A2):c.2504G>A (p.Gly835Asp) rs2115941300
NM_000089.4(COL1A2):c.2512G>A (p.Gly838Ser) rs1057516036
NM_000089.4(COL1A2):c.2558G>C (p.Gly853Ala) rs72658197
NM_000089.4(COL1A2):c.2612G>C (p.Gly871Ala)
NM_000089.4(COL1A2):c.2621G>C (p.Gly874Ala) rs2115946490
NM_000089.4(COL1A2):c.2629G>A (p.Gly877Ser) rs72658201
NM_000089.4(COL1A2):c.2657G>T (p.Gly886Val) rs1562906570
NM_000089.4(COL1A2):c.2673G>A (p.Val891=) rs1114167364
NM_000089.4(COL1A2):c.2693G>T (p.Gly898Val) rs794727669
NM_000089.4(COL1A2):c.2701G>T (p.Gly901Cys) rs72659306
NM_000089.4(COL1A2):c.2710G>C (p.Gly904Arg) rs72659307
NM_000089.4(COL1A2):c.2711G>A (p.Gly904Glu) rs775246283
NM_000089.4(COL1A2):c.2729G>A (p.Gly910Asp) rs2484733399
NM_000089.4(COL1A2):c.2738G>A (p.Gly913Asp) rs886042129
NM_000089.4(COL1A2):c.2783G>T (p.Gly928Val) rs2484734377
NM_000089.4(COL1A2):c.279+3A>C rs762201938
NM_000089.4(COL1A2):c.280-2A>G rs2115874899
NM_000089.4(COL1A2):c.280-2del rs2484699587
NM_000089.4(COL1A2):c.280G>A (p.Gly94Ser) rs2484699591
NM_000089.4(COL1A2):c.2837G>C (p.Gly946Ala) rs1792259695
NM_000089.4(COL1A2):c.2854G>A (p.Gly952Ser) rs2484734751
NM_000089.4(COL1A2):c.2873G>T (p.Gly958Val) rs2484734805
NM_000089.4(COL1A2):c.2900G>T (p.Gly967Val) rs2484734879
NM_000089.4(COL1A2):c.2935G>C (p.Gly979Arg) rs2115952631
NM_000089.4(COL1A2):c.2943+1G>C rs1562907190
NM_000089.4(COL1A2):c.2962G>T (p.Gly988Cys) rs2484735314
NM_000089.4(COL1A2):c.2965_2973dup (p.Pro989_Gly991dup) rs1554398396
NM_000089.4(COL1A2):c.2989G>A (p.Gly997Ser) rs1562907287
NM_000089.4(COL1A2):c.2990G>T (p.Gly997Val)
NM_000089.4(COL1A2):c.299G>T (p.Gly100Val) rs1584315950
NM_000089.4(COL1A2):c.3026G>C (p.Gly1009Ala) rs2484736269
NM_000089.4(COL1A2):c.3034G>A (p.Gly1012Ser) rs72659319
NM_000089.4(COL1A2):c.3070G>A (p.Gly1024Arg) rs2115954840
NM_000089.4(COL1A2):c.3106-2del rs193922166
NM_000089.4(COL1A2):c.3106G>T (p.Gly1036Cys) rs72659325
NM_000089.4(COL1A2):c.3116G>T (p.Gly1039Val)
NM_000089.4(COL1A2):c.3127G>A (p.Ala1043Thr) rs2484737317
NM_000089.4(COL1A2):c.3133G>A (p.Gly1045Ser)
NM_000089.4(COL1A2):c.3134G>A (p.Gly1045Asp) rs2115957148
NM_000089.4(COL1A2):c.3142G>A (p.Gly1048Ser) rs1329724571
NM_000089.4(COL1A2):c.3152G>C (p.Gly1051Ala) rs2115957255
NM_000089.4(COL1A2):c.3159+1G>A rs2484737405
NM_000089.4(COL1A2):c.3159G>A (p.Arg1053=) rs2484737404
NM_000089.4(COL1A2):c.3160G>A (p.Gly1054Ser)
NM_000089.4(COL1A2):c.317G>A (p.Gly106Glu) rs2115875189
NM_000089.4(COL1A2):c.3215G>T (p.Gly1072Val) rs1584330959
NM_000089.4(COL1A2):c.3233G>T (p.Gly1078Val) rs72659332
NM_000089.4(COL1A2):c.3250G>T (p.Gly1084Cys) rs1792298693
NM_000089.4(COL1A2):c.325G>C (p.Gly109Arg) rs2484699831
NM_000089.4(COL1A2):c.3260G>T (p.Gly1087Val) rs72659335
NM_000089.4(COL1A2):c.3268G>A (p.Gly1090Ser) rs72659336
NM_000089.4(COL1A2):c.326G>T (p.Gly109Val) rs1114167416
NM_000089.4(COL1A2):c.3284del (p.Pro1095fs) rs193922167
NM_000089.4(COL1A2):c.334G>A (p.Gly112Ser) rs1554395411
NM_000089.4(COL1A2):c.3355G>A (p.Ala1119Thr) rs193922168
NM_000089.4(COL1A2):c.3355G>C (p.Ala1119Pro) rs193922168
NM_000089.4(COL1A2):c.3583T>C (p.Cys1195Arg) rs2115962248
NM_000089.4(COL1A2):c.3583_3597del (p.Cys1195_Thr1199del) rs2115962258
NM_000089.4(COL1A2):c.3584G>C (p.Cys1195Ser) rs72659342
NM_000089.4(COL1A2):c.3865G>C (p.Ala1289Pro) rs759477389
NM_000089.4(COL1A2):c.3868_3869dup (p.Ile1291fs) rs1792353123
NM_000089.4(COL1A2):c.389G>T (p.Gly130Val) rs72656360
NM_000089.4(COL1A2):c.3950G>A (p.Cys1317Tyr) rs2115967180
NM_000089.4(COL1A2):c.3951C>A (p.Cys1317Ter) rs747369521
NM_000089.4(COL1A2):c.3971G>A (p.Trp1324Ter) rs2115969692
NM_000089.4(COL1A2):c.398G>T (p.Gly133Val) rs1562899031
NM_000089.4(COL1A2):c.4063G>T (p.Glu1355Ter) rs760626067
NM_000089.4(COL1A2):c.424G>A (p.Gly142Ser) rs2484700140
NM_000089.4(COL1A2):c.431A>G (p.Asp144Gly) rs1584316181
NM_000089.4(COL1A2):c.432+2T>A rs2115876295
NM_000089.4(COL1A2):c.433-2A>C rs1554395471
NM_000089.4(COL1A2):c.433-2A>G rs1554395471
NM_000089.4(COL1A2):c.433-3T>G rs1554395470
NM_000089.4(COL1A2):c.451G>A (p.Gly151Arg) rs1381927942
NM_000089.4(COL1A2):c.486+2T>G rs2115877489
NM_000089.4(COL1A2):c.487G>A (p.Gly163Ser)
NM_000089.4(COL1A2):c.488G>T (p.Gly163Val) rs2484701452
NM_000089.4(COL1A2):c.505G>A (p.Gly169Arg) rs2115879081
NM_000089.4(COL1A2):c.515G>T (p.Gly172Val) rs768263997
NM_000089.4(COL1A2):c.538_540+11del rs2484701546
NM_000089.4(COL1A2):c.541G>A (p.Gly181Arg) rs1791793058
NM_000089.4(COL1A2):c.551G>A (p.Gly184Asp) rs1791793398
NM_000089.4(COL1A2):c.594+1G>A
NM_000089.4(COL1A2):c.595-2A>G rs72656375
NM_000089.4(COL1A2):c.596G>A (p.Gly199Asp) rs1554395833
NM_000089.4(COL1A2):c.604G>A (p.Gly202Ser) rs72656376
NM_000089.4(COL1A2):c.605G>T (p.Gly202Val) rs72656377
NM_000089.4(COL1A2):c.614G>A (p.Gly205Asp) rs1443518475
NM_000089.4(COL1A2):c.659G>A (p.Gly220Asp) rs779887555
NM_000089.4(COL1A2):c.677G>A (p.Gly226Asp) rs193922173
NM_000089.4(COL1A2):c.685G>A (p.Gly229Ser) rs2484705722
NM_000089.4(COL1A2):c.693+6T>G rs2115888140
NM_000089.4(COL1A2):c.712G>A (p.Gly238Arg) rs2484705943
NM_000089.4(COL1A2):c.713G>T (p.Gly238Val) rs1188265845
NM_000089.4(COL1A2):c.731G>T (p.Gly244Val) rs1584318303
NM_000089.4(COL1A2):c.739G>T (p.Gly247Cys) rs1064794058
NM_000089.4(COL1A2):c.749G>T (p.Gly250Val) rs1562900513
NM_000089.4(COL1A2):c.752C>T (p.Ser251Phe) rs1387151592
NM_000089.4(COL1A2):c.767G>T (p.Gly256Val) rs67525025
NM_000089.4(COL1A2):c.776G>A (p.Gly259Asp) rs1584318648
NM_000089.4(COL1A2):c.776G>C (p.Gly259Ala) rs1584318648
NM_000089.4(COL1A2):c.784G>C (p.Gly262Arg) rs1554395970
NM_000089.4(COL1A2):c.785G>A (p.Gly262Asp) rs1791858238
NM_000089.4(COL1A2):c.792G>C (p.Lys264Asn) rs2115890442
NM_000089.4(COL1A2):c.802G>A (p.Gly268Arg) rs1584318953
NM_000089.4(COL1A2):c.842_859dup (p.Gly286_Leu287insProArgGlyGluValGly) rs2484707686
NM_000089.4(COL1A2):c.845GTG[1] (p.Gly283del) rs193922175
NM_000089.4(COL1A2):c.857G>C (p.Gly286Ala) rs67210352
NM_000089.4(COL1A2):c.874G>T (p.Gly292Cys) rs906553840
NM_000089.4(COL1A2):c.875G>A (p.Gly292Asp) rs1131692167
NM_000089.4(COL1A2):c.892G>A (p.Gly298Ser) rs72656389
NM_000089.4(COL1A2):c.964G>A (p.Gly322Ser) rs72656394
NM_000089.4(COL1A2):c.973G>C (p.Gly325Arg) rs2484708287
NM_000089.4(COL1A2):c.991G>A (p.Gly331Ser) rs2484708328

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