ClinVar Miner

List of variants in gene COL12A1 reported as likely benign for not provided

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Gene type:
ClinVar version:
Total variants: 190
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HGVS dbSNP gnomAD frequency
NM_004370.6(COL12A1):c.7950+232A>G rs78120174 0.01982
NM_004370.6(COL12A1):c.9011-86T>C rs2273264 0.01937
NM_004370.6(COL12A1):c.8578-222T>C rs9360880 0.01637
NM_004370.6(COL12A1):c.1892-132C>T rs114530162 0.01431
NM_004370.6(COL12A1):c.1891+90C>T rs115114561 0.01428
NM_004370.6(COL12A1):c.1892-290G>T rs114887484 0.01428
NM_004370.6(COL12A1):c.7697+230A>G rs114295888 0.01428
NM_004370.6(COL12A1):c.1288+33T>G rs147287796 0.01427
NM_004370.6(COL12A1):c.8101-229G>T rs116489011 0.01427
NM_004370.6(COL12A1):c.998-221T>C rs16886243 0.01427
NM_004370.6(COL12A1):c.1891+250G>C rs146574478 0.01426
NM_004370.6(COL12A1):c.2164+34_2164+35insC rs201467556 0.01422
NM_004370.6(COL12A1):c.1289-89A>T rs546457671 0.01421
NM_004370.6(COL12A1):c.2164+36_2164+37del rs200539436 0.01419
NM_004370.6(COL12A1):c.8101-172G>A rs114449178 0.01409
NM_004370.6(COL12A1):c.2164+212G>A rs150204051 0.01401
NM_004370.6(COL12A1):c.2164+279T>C rs141838393 0.01342
NM_004370.6(COL12A1):c.335-157G>C rs148142826 0.01342
NM_004370.6(COL12A1):c.8649+265C>T rs111902297 0.01247
NM_004370.6(COL12A1):c.7355-83C>A rs41266765 0.01178
NM_004370.6(COL12A1):c.2165-95T>C rs75145149 0.01089
NM_004370.6(COL12A1):c.8753-60T>G rs75751415 0.01051
NM_004370.6(COL12A1):c.8650-58A>G rs138900160 0.00999
NM_004370.6(COL12A1):c.190+311G>T rs114204065 0.00928
NM_004370.6(COL12A1):c.190+312C>T rs115285483 0.00927
NM_004370.6(COL12A1):c.8237T>C (p.Val2746Ala) rs34369939 0.00867
NM_004370.6(COL12A1):c.7698-275T>G rs113416092 0.00850
NM_004370.6(COL12A1):c.8578-295T>C rs374249087 0.00839
NM_004370.6(COL12A1):c.4560+218G>A rs113548469 0.00838
NM_004370.6(COL12A1):c.4001-38G>A rs113194449 0.00799
NM_004370.6(COL12A1):c.7520-221T>A rs16886121 0.00791
NM_004370.6(COL12A1):c.6590C>T (p.Thr2197Ile) rs117038107 0.00776
NM_004370.6(COL12A1):c.8178+221C>A rs111903876 0.00740
NM_004370.6(COL12A1):c.2438-92G>A rs73747438 0.00736
NM_004370.6(COL12A1):c.6210+13C>T rs139520272 0.00723
NM_004370.6(COL12A1):c.190+168del rs568524064 0.00679
NM_004370.6(COL12A1):c.4828-68A>G rs181691960 0.00663
NM_004370.6(COL12A1):c.1289-57G>A rs115844244 0.00658
NM_004370.6(COL12A1):c.7520-228A>G rs149944485 0.00639
NM_004370.6(COL12A1):c.8523+255A>C rs146714320 0.00595
NM_004370.6(COL12A1):c.3250+101G>A rs75188867 0.00584
NM_004370.6(COL12A1):c.394+261C>T rs2274901 0.00569
NM_004370.6(COL12A1):c.4288-200C>T rs116225302 0.00564
NM_004370.6(COL12A1):c.2711-24A>T rs148718783 0.00555
NM_004370.6(COL12A1):c.6068-80A>G rs144476645 0.00520
NM_004370.6(COL12A1):c.4917C>T (p.Asp1639=) rs80102965 0.00499
NM_004370.6(COL12A1):c.9083G>A (p.Arg3028His) rs41266761 0.00484
NM_004370.6(COL12A1):c.4561-162_4561-161insG rs1403717123 0.00479
NM_004370.6(COL12A1):c.4957+294C>A rs73749968 0.00458
NM_004370.6(COL12A1):c.5395-327del rs374510254 0.00455
NM_004370.6(COL12A1):c.8320-35T>C rs56333731 0.00454
NM_004370.6(COL12A1):c.8179-137A>G rs76348881 0.00436
NM_004370.6(COL12A1):c.4245T>C (p.Tyr1415=) rs34830422 0.00420
NM_004370.6(COL12A1):c.4876T>G (p.Ser1626Ala) rs77654847 0.00419
NM_004370.6(COL12A1):c.5795-149T>C rs183041877 0.00416
NM_004370.6(COL12A1):c.2984-190C>A rs567828587 0.00406
NM_004370.6(COL12A1):c.5524+263G>A rs181074631 0.00396
NM_004370.6(COL12A1):c.6461-115G>A rs146593043 0.00381
NM_004370.6(COL12A1):c.4561-269G>A rs113447407 0.00378
NM_004370.6(COL12A1):c.6872-226C>T rs148708673 0.00373
NM_004370.6(COL12A1):c.4000+5G>A rs181257320 0.00349
NM_004370.6(COL12A1):c.3651C>T (p.Thr1217=) rs140319205 0.00348
NM_004370.6(COL12A1):c.4335A>G (p.Lys1445=) rs113549828 0.00347
NM_004370.6(COL12A1):c.4958-228T>C rs116043772 0.00347
NM_004370.6(COL12A1):c.7355-50A>C rs115471729 0.00343
NM_004370.6(COL12A1):c.8752+234G>A rs553097287 0.00336
NM_004370.6(COL12A1):c.5395-46A>G rs147802696 0.00334
NM_004370.6(COL12A1):c.1891+325A>T rs140329165 0.00323
NM_004370.6(COL12A1):c.8320-181C>G rs140055621 0.00318
NM_004370.6(COL12A1):c.8100+192T>A rs115096802 0.00317
NM_004370.6(COL12A1):c.3566-100A>G rs113988474 0.00316
NM_004370.6(COL12A1):c.8753-169T>G rs77891462 0.00314
NM_004370.6(COL12A1):c.6946+27T>G rs186886315 0.00298
NM_004370.6(COL12A1):c.8100+303C>T rs73746803 0.00295
NM_004370.6(COL12A1):c.5874A>G (p.Pro1958=) rs186035636 0.00283
NM_004370.6(COL12A1):c.4186C>A (p.Arg1396=) rs115511838 0.00278
NM_004370.6(COL12A1):c.2965G>A (p.Gly989Arg) rs139332405 0.00262
NM_004370.6(COL12A1):c.4691-12G>A rs146472530 0.00243
NM_004370.6(COL12A1):c.7558+48A>G rs141527478 0.00225
NM_004370.6(COL12A1):c.2275C>T (p.Pro759Ser) rs141517088 0.00224
NM_004370.6(COL12A1):c.5727C>T (p.Tyr1909=) rs146146364 0.00173
NM_004370.6(COL12A1):c.8970T>C (p.Gly2990=) rs190501064 0.00173
NM_004370.6(COL12A1):c.3565+21C>T rs6924261 0.00166
NM_004370.6(COL12A1):c.1896C>T (p.Tyr632=) rs201266825 0.00159
NM_004370.6(COL12A1):c.5005G>C (p.Glu1669Gln) rs181511246 0.00147
NM_004370.6(COL12A1):c.5402T>C (p.Ile1801Thr) rs200317239 0.00141
NM_004370.6(COL12A1):c.743T>C (p.Ile248Thr) rs199673248 0.00118
NM_004370.6(COL12A1):c.7898T>C (p.Val2633Ala) rs200408101 0.00111
NM_004370.6(COL12A1):c.7355-9A>G rs145346828 0.00103
NM_004370.6(COL12A1):c.8421C>T (p.Arg2807=) rs371949188 0.00103
NM_004370.6(COL12A1):c.7990A>G (p.Ile2664Val) rs41266763 0.00101
NM_004370.6(COL12A1):c.8179-10A>G rs142509363 0.00101
NM_004370.6(COL12A1):c.6641A>G (p.Gln2214Arg) rs41269303 0.00096
NM_004370.6(COL12A1):c.4958-7A>C rs1332779 0.00083
NM_004370.6(COL12A1):c.2711-15T>C rs74331327 0.00071
NM_004370.6(COL12A1):c.6062G>A (p.Arg2021Gln) rs34438461 0.00067
NM_004370.6(COL12A1):c.9006C>T (p.Pro3002=) rs184663595 0.00067
NM_004370.6(COL12A1):c.3835+4A>G rs187358458 0.00053
NM_004370.6(COL12A1):c.1215C>T (p.Ser405=) rs374962362 0.00051
NM_004370.6(COL12A1):c.5221G>A (p.Glu1741Lys) rs200201449 0.00040
NM_004370.6(COL12A1):c.1152T>C (p.Pro384=) rs200496785 0.00039
NM_004370.6(COL12A1):c.1892-7_1892-6del rs1491398037 0.00039
NM_004370.6(COL12A1):c.5085A>G (p.Ser1695=) rs190018580 0.00039
NM_004370.6(COL12A1):c.8639A>G (p.His2880Arg) rs185171880 0.00035
NM_004370.6(COL12A1):c.1188A>C (p.Ala396=) rs202153313 0.00034
NM_004370.6(COL12A1):c.132A>G (p.Ser44=) rs201454637 0.00034
NM_004370.6(COL12A1):c.6752G>A (p.Arg2251His) rs151324784 0.00033
NM_004370.6(COL12A1):c.6120C>T (p.Ser2040=) rs200570792 0.00026
NM_004370.6(COL12A1):c.8622A>G (p.Pro2874=) rs368321891 0.00026
NM_004370.6(COL12A1):c.6922C>G (p.Pro2308Ala) rs55997127 0.00025
NM_004370.6(COL12A1):c.3534C>T (p.Ser1178=) rs747982811 0.00024
NM_004370.6(COL12A1):c.6448T>C (p.Tyr2150His) rs200450866 0.00023
NM_004370.6(COL12A1):c.1892-7_1892-6insC rs34433354 0.00022
NM_004370.6(COL12A1):c.5839C>A (p.Pro1947Thr) rs191233787 0.00021
NM_004370.6(COL12A1):c.1644C>A (p.Ile548=) rs147111006 0.00019
NM_004370.6(COL12A1):c.5501G>A (p.Arg1834Gln) rs182768408 0.00018
NM_004370.6(COL12A1):c.7008C>T (p.Asp2336=) rs377413592 0.00017
NM_004370.6(COL12A1):c.8904G>A (p.Pro2968=) rs181007051 0.00016
NM_004370.6(COL12A1):c.8752+22C>T rs529883980 0.00014
NM_004370.6(COL12A1):c.3652G>A (p.Val1218Met) rs201749138 0.00011
NM_004370.6(COL12A1):c.9165C>T (p.Asn3055=) rs369646700 0.00011
NM_004370.6(COL12A1):c.732G>A (p.Val244=) rs200141559 0.00010
NM_004370.6(COL12A1):c.7854G>C (p.Thr2618=) rs190984968 0.00010
NM_004370.6(COL12A1):c.8856C>T (p.Ser2952=) rs375760724 0.00009
NM_004370.6(COL12A1):c.4187G>A (p.Arg1396Gln) rs370549168 0.00007
NM_004370.6(COL12A1):c.3279C>G (p.Leu1093=) rs536622585 0.00006
NM_004370.6(COL12A1):c.5230C>T (p.Leu1744=) rs552834799 0.00006
NM_004370.6(COL12A1):c.525G>A (p.Glu175=) rs199736979 0.00006
NM_004370.6(COL12A1):c.1821G>A (p.Arg607=) rs199994914 0.00005
NM_004370.6(COL12A1):c.1971A>C (p.Glu657Asp) rs758146130 0.00005
NM_004370.6(COL12A1):c.384C>T (p.Thr128=) rs200378966 0.00005
NM_004370.6(COL12A1):c.4288-5C>T rs544779989 0.00005
NM_004370.6(COL12A1):c.1117G>T (p.Ala373Ser) rs370379561 0.00004
NM_004370.6(COL12A1):c.2064C>T (p.Leu688=) rs746946822 0.00004
NM_004370.6(COL12A1):c.2157C>T (p.Thr719=) rs776302292 0.00004
NM_004370.6(COL12A1):c.2637C>T (p.Tyr879=) rs191863996 0.00004
NM_004370.6(COL12A1):c.3021A>G (p.Glu1007=) rs368940290 0.00004
NM_004370.6(COL12A1):c.3741C>T (p.Pro1247=) rs371282637 0.00004
NM_004370.6(COL12A1):c.3782G>A (p.Ser1261Asn) rs370339027 0.00004
NM_004370.6(COL12A1):c.4962C>T (p.Pro1654=) rs771078518 0.00004
NM_004370.6(COL12A1):c.5098-13C>T rs186255379 0.00004
NM_004370.6(COL12A1):c.7541A>G (p.Asp2514Gly) rs202109365 0.00004
NM_004370.6(COL12A1):c.8277T>A (p.Gly2759=) rs187901672 0.00004
NM_004370.6(COL12A1):c.8406G>A (p.Pro2802=) rs761216954 0.00004
NM_004370.6(COL12A1):c.1737C>T (p.Ala579=) rs780442166 0.00003
NM_004370.6(COL12A1):c.2055T>C (p.Ser685=) rs780620827 0.00003
NM_004370.6(COL12A1):c.3570G>A (p.Met1190Ile) rs536615203 0.00003
NM_004370.6(COL12A1):c.411C>G (p.Ala137=) rs373362080 0.00003
NM_004370.6(COL12A1):c.5376G>C (p.Gly1792=) rs751658468 0.00003
NM_004370.6(COL12A1):c.189G>A (p.Thr63=) rs371298920 0.00002
NM_004370.6(COL12A1):c.2437+13T>C rs545025813 0.00002
NM_004370.6(COL12A1):c.2445G>A (p.Gly815=) rs201021998 0.00002
NM_004370.6(COL12A1):c.2679C>T (p.Asp893=) rs747852589 0.00002
NM_004370.6(COL12A1):c.3033A>C (p.Thr1011=) rs1424598359 0.00002
NM_004370.6(COL12A1):c.7428T>C (p.Ser2476=) rs777334909 0.00002
NM_004370.6(COL12A1):c.8745G>A (p.Leu2915=) rs749317169 0.00002
NM_004370.6(COL12A1):c.1018T>C (p.Leu340=) rs578252411 0.00001
NM_004370.6(COL12A1):c.191-12T>C rs772991479 0.00001
NM_004370.6(COL12A1):c.2164+18C>A rs183023584 0.00001
NM_004370.6(COL12A1):c.2664G>A (p.Ala888=) rs756052823 0.00001
NM_004370.6(COL12A1):c.2823A>G (p.Ser941=) rs760141819 0.00001
NM_004370.6(COL12A1):c.3960A>G (p.Ser1320=) rs767512171 0.00001
NM_004370.6(COL12A1):c.4053T>C (p.Asp1351=) rs776829103 0.00001
NM_004370.6(COL12A1):c.5957C>T (p.Thr1986Met) rs768824483 0.00001
NM_004370.6(COL12A1):c.6945T>C (p.Asp2315=) rs1206653866 0.00001
NM_004370.6(COL12A1):c.7023A>G (p.Lys2341=) rs1188817520 0.00001
NM_004370.6(COL12A1):c.8320-12T>G rs1435344195 0.00001
NM_004370.6(COL12A1):c.*16G>T rs114679644
NM_004370.6(COL12A1):c.1224G>A (p.Lys408=) rs1769468887
NM_004370.6(COL12A1):c.1892-19dup rs11347601
NM_004370.6(COL12A1):c.1897G>T (p.Val633Phe) rs200315815
NM_004370.6(COL12A1):c.2984-40del rs577647862
NM_004370.6(COL12A1):c.3258G>A (p.Arg1086=)
NM_004370.6(COL12A1):c.3565+10T>A rs897799506
NM_004370.6(COL12A1):c.4056T>C (p.Asp1352=) rs1582137772
NM_004370.6(COL12A1):c.4564C>T (p.Arg1522Cys) rs574863380
NM_004370.6(COL12A1):c.4701C>G (p.Pro1567=) rs17791238
NM_004370.6(COL12A1):c.4929T>C (p.Ser1643=) rs1582121295
NM_004370.6(COL12A1):c.5467G>A (p.Val1823Ile) rs201408175
NM_004370.6(COL12A1):c.6068-306T>C rs75929432
NM_004370.6(COL12A1):c.6211-196G>T rs62415671
NM_004370.6(COL12A1):c.6843A>G (p.Gly2281=) rs1582087085
NM_004370.6(COL12A1):c.7086+7G>T rs750996283
NM_004370.6(COL12A1):c.7698-19_7698-15del rs141102808
NM_004370.6(COL12A1):c.7854G>A (p.Thr2618=) rs190984968
NM_004370.6(COL12A1):c.8470-78del rs368328098
NM_004370.6(COL12A1):c.8524-161dup rs200980817
NM_004370.6(COL12A1):c.8650-300dup rs146907304
NM_004370.6(COL12A1):c.9182-115TA[15] rs61611291
NM_004370.6(COL12A1):c.998-134C>A rs79633796

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