ClinVar Miner

List of variants in gene COL1A2 reported as likely pathogenic

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 271
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HGVS dbSNP gnomAD frequency
NM_000089.4(COL1A2):c.2755G>A (p.Gly919Ser) rs749621872 0.00002
NM_000089.4(COL1A2):c.647G>A (p.Arg216His) rs756743425 0.00002
NM_000089.4(COL1A2):c.1404+1G>A rs67162110 0.00001
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.2656G>A (p.Gly886Ser) rs886043796 0.00001
NM_000089.4(COL1A2):c.2701G>A (p.Gly901Ser) rs72659306 0.00001
NM_000089.4(COL1A2):c.2957C>T (p.Pro986Leu) rs768171831 0.00001
NM_000089.4(COL1A2):c.298G>A (p.Gly100Ser) rs1410254723 0.00001
NM_000089.4(COL1A2):c.838G>A (p.Gly280Ser) rs72656387 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.1018G>A (p.Gly340Ser) rs67180473
NM_000089.4(COL1A2):c.1036G>A (p.Gly346Ser)
NM_000089.4(COL1A2):c.1054G>A (p.Gly352Ser) rs1064796419
NM_000089.4(COL1A2):c.1069_1070del (p.Ser357fs) rs1131691888
NM_000089.4(COL1A2):c.1072G>A (p.Gly358Ser) rs66619856
NM_000089.4(COL1A2):c.1081G>A (p.Gly361Ser)
NM_000089.4(COL1A2):c.1081G>T (p.Gly361Cys) rs1791894410
NM_000089.4(COL1A2):c.1089+1G>A
NM_000089.4(COL1A2):c.1135G>A (p.Gly379Arg) rs786205587
NM_000089.4(COL1A2):c.1136G>C (p.Gly379Ala) rs121912912
NM_000089.4(COL1A2):c.115G>A (p.Gly39Arg)
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.1199G>A (p.Gly400Asp)
NM_000089.4(COL1A2):c.1208G>A (p.Gly403Asp) rs1554396271
NM_000089.4(COL1A2):c.1208G>T (p.Gly403Val) rs1554396271
NM_000089.4(COL1A2):c.1216_1218del (p.Gly406del) rs1791907178
NM_000089.4(COL1A2):c.1217G>A (p.Gly406Asp)
NM_000089.4(COL1A2):c.1235G>T (p.Gly412Val) rs1554396283
NM_000089.4(COL1A2):c.1288G>A (p.Gly430Arg)
NM_000089.4(COL1A2):c.1306G>A (p.Gly436Arg) rs2115899372
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.1349_1350+2del rs2115899670
NM_000089.4(COL1A2):c.1391AAG[1] (p.Glu465del) rs1791941199
NM_000089.4(COL1A2):c.1396G>A (p.Gly466Ser) rs1584321194
NM_000089.4(COL1A2):c.1405G>A (p.Gly469Ser)
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)
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.1496G>T (p.Gly499Val) rs72658122
NM_000089.4(COL1A2):c.1503+1G>A rs1554396615
NM_000089.4(COL1A2):c.1503+1G>C rs1554396615
NM_000089.4(COL1A2):c.1504-2A>G
NM_000089.4(COL1A2):c.1504G>A (p.Gly502Ser) rs121912910
NM_000089.4(COL1A2):c.1505G>A (p.Gly502Asp)
NM_000089.4(COL1A2):c.1514G>C (p.Gly505Ala) rs1554396680
NM_000089.4(COL1A2):c.1531G>T (p.Gly511Cys)
NM_000089.4(COL1A2):c.1541G>C (p.Gly514Ala) rs1791962073
NM_000089.4(COL1A2):c.1576G>A (p.Gly526Arg) rs72658129
NM_000089.4(COL1A2):c.1612G>A (p.Gly538Ser)
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.1657G>T (p.Gly553Cys)
NM_000089.4(COL1A2):c.1667G>T (p.Gly556Val) rs1584322737
NM_000089.4(COL1A2):c.1685G>A (p.Gly562Asp) rs1791991940
NM_000089.4(COL1A2):c.1694G>C (p.Gly565Ala) rs794727470
NM_000089.4(COL1A2):c.169G>T (p.Gly57Cys)
NM_000089.4(COL1A2):c.1764+1G>T rs72658140
NM_000089.4(COL1A2):c.1765-2del
NM_000089.4(COL1A2):c.1775G>A (p.Gly592Asp)
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.1811G>A (p.Gly604Asp) rs2115917059
NM_000089.4(COL1A2):c.1812del (p.Pro605fs) rs1792043667
NM_000089.4(COL1A2):c.1820G>C (p.Gly607Ala) rs1792043985
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.1847G>A (p.Gly616Glu) rs1554397133
NM_000089.4(COL1A2):c.1854_1856del (p.Asp618_Gly619delinsGlu) rs2115917306
NM_000089.4(COL1A2):c.1863+2T>G rs1418151948
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.1901G>T (p.Gly634Val)
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)
NM_000089.4(COL1A2):c.2010_2013delinsG (p.Arg671del)
NM_000089.4(COL1A2):c.2011del (p.Arg671fs) rs2115924490
NM_000089.4(COL1A2):c.2026-2A>G
NM_000089.4(COL1A2):c.2026G>A (p.Gly676Ser)
NM_000089.4(COL1A2):c.2027G>A (p.Gly676Asp) rs66883877
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.2042_2059del (p.Val681_Pro686del)
NM_000089.4(COL1A2):c.2053G>T (p.Gly685Cys)
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.2079+1G>A
NM_000089.4(COL1A2):c.2080G>A (p.Gly694Ser) rs121912908
NM_000089.4(COL1A2):c.2095GCTGGTCCT[2] (p.699AGP[2]) rs72658162
NM_000089.4(COL1A2):c.2107G>T (p.Gly703Cys)
NM_000089.4(COL1A2):c.2144G>T (p.Gly715Val)
NM_000089.4(COL1A2):c.2161G>T (p.Gly721Cys) rs72658169
NM_000089.4(COL1A2):c.2179G>C (p.Gly727Arg)
NM_000089.4(COL1A2):c.2189G>T (p.Gly730Val) rs1562905224
NM_000089.4(COL1A2):c.2198G>C (p.Gly733Ala) rs2115931844
NM_000089.4(COL1A2):c.2225G>A (p.Gly742Glu) rs2115931969
NM_000089.4(COL1A2):c.2233G>A (p.Gly745Arg)
NM_000089.4(COL1A2):c.2242G>A (p.Gly748Ser) rs1562905246
NM_000089.4(COL1A2):c.226-2A>G rs72656355
NM_000089.4(COL1A2):c.2260G>T (p.Gly754Cys) rs72658177
NM_000089.4(COL1A2):c.2261G>A (p.Gly754Asp) rs1554397621
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
NM_000089.4(COL1A2):c.2297G>A (p.Gly766Asp)
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.2324G>A (p.Gly775Glu) rs1792148801
NM_000089.4(COL1A2):c.2330GTG[3] (p.Gly778_Asp779insGly)
NM_000089.4(COL1A2):c.2333G>C (p.Gly778Ala) rs2115933783
NM_000089.4(COL1A2):c.2402_2403insA (p.Gly802fs)
NM_000089.4(COL1A2):c.2405G>T (p.Gly802Val) rs1562906013
NM_000089.4(COL1A2):c.2427_2435dup (p.Pro812_Ala813insProGlyPro)
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.2495G>A (p.Gly832Glu)
NM_000089.4(COL1A2):c.2504G>A (p.Gly835Asp) rs2115941300
NM_000089.4(COL1A2):c.2504G>T (p.Gly835Val)
NM_000089.4(COL1A2):c.2512G>A (p.Gly838Ser) rs1057516036
NM_000089.4(COL1A2):c.2533dup (p.Glu845fs) rs1584328014
NM_000089.4(COL1A2):c.2558G>C (p.Gly853Ala)
NM_000089.4(COL1A2):c.2584G>A (p.Gly862Ser) rs1554398126
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.2675G>T (p.Gly892Val) rs72659304
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)
NM_000089.4(COL1A2):c.2711G>A (p.Gly904Glu) rs775246283
NM_000089.4(COL1A2):c.2711G>C (p.Gly904Ala)
NM_000089.4(COL1A2):c.2729G>A (p.Gly910Asp)
NM_000089.4(COL1A2):c.2737G>A (p.Gly913Ser) rs1305819869
NM_000089.4(COL1A2):c.2738G>A (p.Gly913Asp)
NM_000089.4(COL1A2):c.2738G>T (p.Gly913Val) rs886042129
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
NM_000089.4(COL1A2):c.280G>A (p.Gly94Ser)
NM_000089.4(COL1A2):c.2810G>A (p.Gly937Asp) rs1584329740
NM_000089.4(COL1A2):c.2827G>A (p.Gly943Arg) rs193922165
NM_000089.4(COL1A2):c.2837G>C (p.Gly946Ala)
NM_000089.4(COL1A2):c.2854G>A (p.Gly952Ser)
NM_000089.4(COL1A2):c.2864G>A (p.Gly955Asp) rs2115952213
NM_000089.4(COL1A2):c.2873G>T (p.Gly958Val)
NM_000089.4(COL1A2):c.2900G>T (p.Gly967Val)
NM_000089.4(COL1A2):c.2935G>C (p.Gly979Arg) rs2115952631
NM_000089.4(COL1A2):c.2943+1G>C rs1562907190
NM_000089.4(COL1A2):c.2953G>A (p.Gly985Ser) rs2115953343
NM_000089.4(COL1A2):c.2962G>T (p.Gly988Cys)
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.299G>A (p.Gly100Asp)
NM_000089.4(COL1A2):c.299G>T (p.Gly100Val) rs1584315950
NM_000089.4(COL1A2):c.3026G>C (p.Gly1009Ala)
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.308G>A (p.Gly103Asp)
NM_000089.4(COL1A2):c.3106-2del rs193922166
NM_000089.4(COL1A2):c.3106G>T (p.Gly1036Cys) rs72659325
NM_000089.4(COL1A2):c.3116G>A (p.Gly1039Asp) rs72659326
NM_000089.4(COL1A2):c.3127G>A (p.Ala1043Thr)
NM_000089.4(COL1A2):c.3134G>A (p.Gly1045Asp) rs2115957148
NM_000089.4(COL1A2):c.3142G>A (p.Gly1048Ser)
NM_000089.4(COL1A2):c.3152G>C (p.Gly1051Ala) rs2115957255
NM_000089.4(COL1A2):c.3159+1G>A
NM_000089.4(COL1A2):c.3159G>A (p.Arg1053=)
NM_000089.4(COL1A2):c.3160-1G>C
NM_000089.4(COL1A2):c.3161G>T (p.Gly1054Val)
NM_000089.4(COL1A2):c.317G>A (p.Gly106Glu) rs2115875189
NM_000089.4(COL1A2):c.3196G>A (p.Gly1066Ser) rs1269193853
NM_000089.4(COL1A2):c.3215G>T (p.Gly1072Val) rs1584330959
NM_000089.4(COL1A2):c.3233G>T (p.Gly1078Val)
NM_000089.4(COL1A2):c.3250G>T (p.Gly1084Cys) rs1792298693
NM_000089.4(COL1A2):c.325G>C (p.Gly109Arg)
NM_000089.4(COL1A2):c.3260G>T (p.Gly1087Val) rs72659335
NM_000089.4(COL1A2):c.3268G>A (p.Gly1090Ser)
NM_000089.4(COL1A2):c.326G>A (p.Gly109Asp) rs1114167416
NM_000089.4(COL1A2):c.326G>T (p.Gly109Val) rs1114167416
NM_000089.4(COL1A2):c.3277G>T (p.Gly1093Cys)
NM_000089.4(COL1A2):c.3284del (p.Pro1095fs) rs193922167
NM_000089.4(COL1A2):c.3305G>C (p.Gly1102Ala) rs68063264
NM_000089.4(COL1A2):c.334G>A (p.Gly112Ser) rs1554395411
NM_000089.4(COL1A2):c.3350A>G (p.Tyr1117Cys) rs2115959866
NM_000089.4(COL1A2):c.3355G>A (p.Ala1119Thr)
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)
NM_000089.4(COL1A2):c.3765del (p.Phe1256fs) rs1584332692
NM_000089.4(COL1A2):c.3793T>C (p.Ser1265Pro) rs886044109
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.3951C>A (p.Cys1317Ter)
NM_000089.4(COL1A2):c.3971G>A (p.Trp1324Ter) rs2115969692
NM_000089.4(COL1A2):c.3987del (p.Ile1329fs) rs1200377228
NM_000089.4(COL1A2):c.398G>T (p.Gly133Val) rs1562899031
NM_000089.4(COL1A2):c.401del (p.Pro134fs) rs1057518136
NM_000089.4(COL1A2):c.4060C>T (p.Gln1354Ter)
NM_000089.4(COL1A2):c.424G>A (p.Gly142Ser)
NM_000089.4(COL1A2):c.431A>G (p.Asp144Gly) rs1584316181
NM_000089.4(COL1A2):c.432+1G>A rs1554395431
NM_000089.4(COL1A2):c.432+2T>A rs2115876295
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)
NM_000089.4(COL1A2):c.486+2T>G rs2115877489
NM_000089.4(COL1A2):c.488G>T (p.Gly163Val)
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
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.569G>A (p.Gly190Glu) rs72656369
NM_000089.4(COL1A2):c.594+1G>T rs2115881240
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)
NM_000089.4(COL1A2):c.614G>C (p.Gly205Ala)
NM_000089.4(COL1A2):c.659G>A (p.Gly220Asp)
NM_000089.4(COL1A2):c.670C>T (p.Arg224Cys)
NM_000089.4(COL1A2):c.677G>A (p.Gly226Asp) rs193922173
NM_000089.4(COL1A2):c.685G>A (p.Gly229Ser)
NM_000089.4(COL1A2):c.704G>A (p.Gly235Asp)
NM_000089.4(COL1A2):c.712G>A (p.Gly238Arg)
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>A (p.Gly247Ser)
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.776G>T (p.Gly259Val) 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.794G>T (p.Gly265Val) rs72656386
NM_000089.4(COL1A2):c.802G>A (p.Gly268Arg) rs1584318953
NM_000089.4(COL1A2):c.809_820del (p.Val270_Ala273del) rs1584318956
NM_000089.4(COL1A2):c.838G>T (p.Gly280Cys)
NM_000089.4(COL1A2):c.842_859dup (p.Gly286_Leu287insProArgGlyGluValGly)
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.910G>A (p.Gly304Ser) rs1054264002
NM_000089.4(COL1A2):c.947G>A (p.Gly316Asp)
NM_000089.4(COL1A2):c.964G>A (p.Gly322Ser) rs72656394
NM_000089.4(COL1A2):c.973G>C (p.Gly325Arg)
NM_000089.4(COL1A2):c.991G>A (p.Gly331Ser)

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