ClinVar Miner

List of variants in gene COL4A1 reported as benign by GeneDx

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 200
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HGVS dbSNP gnomAD frequency
NM_001845.6(COL4A1):c.1663= (p.Pro555=) rs536174 0.99999
NM_001845.6(COL4A1):c.780+60T>C rs598819 0.97967
NM_001845.6(COL4A1):c.858+240G>A rs630487 0.97888
NM_001845.6(COL4A1):c.4755+156A>G rs615742 0.87694
NM_001845.6(COL4A1):c.4755+134A>G rs616089 0.87683
NM_001845.6(COL4A1):c.1285+44A>G rs683309 0.87424
NM_001845.6(COL4A1):c.616-11G>C rs645114 0.84459
NM_001845.6(COL4A1):c.4756-209C>T rs681884 0.76715
NM_001845.6(COL4A1):c.1382-54C>T rs685884 0.71178
NM_001845.6(COL4A1):c.1382-245G>A rs686746 0.69858
NM_001845.6(COL4A1):c.1465+134T>C rs490727 0.69561
NM_001845.6(COL4A1):c.958-317G>A rs645098 0.68049
NM_001845.6(COL4A1):c.1897+86T>C rs565470 0.67920
NM_001845.6(COL4A1):c.957+198T>C rs665713 0.65749
NM_001845.6(COL4A1):c.3949+48T>C rs652572 0.65121
NM_001845.6(COL4A1):c.3877-9C>T rs589985 0.63996
NM_001845.6(COL4A1):c.3949+143T>C rs1213026 0.61667
NM_001845.6(COL4A1):c.3949+45C>T rs1778817 0.61514
NM_001845.6(COL4A1):c.4021+247G>C rs616463 0.59870
NM_001845.6(COL4A1):c.859-10T>C rs677877 0.57082
NM_001845.6(COL4A1):c.903+18G>A rs482757 0.56804
NM_001845.6(COL4A1):c.780+216C>G rs587596 0.56778
NM_001845.6(COL4A1):c.780+7G>A rs598893 0.56762
NM_001845.6(COL4A1):c.999+306G>C rs537532 0.56642
NM_001845.6(COL4A1):c.958-226T>C rs648735 0.56511
NM_001845.6(COL4A1):c.958-199T>G rs648705 0.56436
NM_001845.6(COL4A1):c.4022-304T>C rs56281756 0.54573
NM_001845.6(COL4A1):c.4022-328T>C rs59504364 0.54534
NM_001845.6(COL4A1):c.3557-261C>T rs9588107 0.53383
NM_001845.6(COL4A1):c.388-127A>G rs626444 0.52151
NM_001845.6(COL4A1):c.3876+142C>T rs1838557 0.51411
NM_001845.6(COL4A1):c.432T>A (p.Ala144=) rs532625 0.42890
NM_001845.6(COL4A1):c.2345-68A>G rs503053 0.41247
NM_001845.6(COL4A1):c.615+59T>G rs2166207 0.40648
NM_001845.6(COL4A1):c.652-207G>A rs9559744 0.40515
NM_001845.6(COL4A1):c.1466-90G>A rs2241967 0.40420
NM_001845.6(COL4A1):c.2095+145G>T rs7329411 0.39266
NM_001845.6(COL4A1):c.1728+57T>C rs9521638 0.39186
NM_001845.6(COL4A1):c.2095+291G>A rs3783111 0.37080
NM_001845.6(COL4A1):c.1897+29A>G rs2305080 0.36061
NM_001845.6(COL4A1):c.4470C>T (p.Ala1490=) rs1133219 0.35362
NM_001845.6(COL4A1):c.3556+93G>C rs2289799 0.34395
NM_001845.6(COL4A1):c.2193+75G>A rs16975491 0.33939
NM_001845.6(COL4A1):c.3199-222A>G rs1000990 0.33918
NM_001845.6(COL4A1):c.2968+51C>T rs1562173 0.33916
NM_001845.6(COL4A1):c.3198+177G>C rs1562174 0.33915
NM_001845.6(COL4A1):c.3199-207A>G rs1000989 0.33883
NM_001845.6(COL4A1):c.3059-211G>A rs1891964 0.33876
NM_001845.6(COL4A1):c.3183G>A (p.Gly1061=) rs874204 0.33827
NM_001845.6(COL4A1):c.3189A>T (p.Arg1063=) rs874203 0.33819
NM_001845.6(COL4A1):c.1121-36C>G rs496916 0.33676
NM_001845.6(COL4A1):c.4150+38C>G rs1816884 0.33505
NM_001845.6(COL4A1):c.3556+244G>A rs2289800 0.32887
NM_001845.6(COL4A1):c.2130G>A (p.Pro710=) rs16975492 0.32653
NM_001845.6(COL4A1):c.279+167G>A rs3737327 0.31463
NM_001845.6(COL4A1):c.279+168T>C rs3737326 0.31400
NM_001845.6(COL4A1):c.1121-58A>G rs995223 0.31285
NM_001845.6(COL4A1):c.1285+291A>G rs10492498 0.29992
NM_001845.6(COL4A1):c.616-197T>C rs7332235 0.27009
NM_001845.6(COL4A1):c.651+68A>G rs7333204 0.26931
NM_001845.6(COL4A1):c.652-105A>G rs12869358 0.26925
NM_001845.6(COL4A1):c.651+179A>G rs7333008 0.26917
NM_001845.6(COL4A1):c.651+69C>T rs7332120 0.26915
NM_001845.6(COL4A1):c.651+88C>T rs61963269 0.26899
NM_001845.6(COL4A1):c.652-158T>A rs12868203 0.26846
NM_001845.6(COL4A1):c.652-180A>T rs12869391 0.26841
NM_001845.6(COL4A1):c.652-185T>A rs12868210 0.26543
NM_001845.6(COL4A1):c.1285+277T>A rs35784668 0.26455
NM_001845.6(COL4A1):c.1257T>C (p.Pro419=) rs995224 0.25994
NM_001845.6(COL4A1):c.615+24C>T rs9521649 0.23777
NM_001845.6(COL4A1):c.85-11T>C rs41275104 0.22726
NM_001845.6(COL4A1):c.279+64G>A rs3737328 0.22663
NM_001845.6(COL4A1):c.1465+117C>T rs9521642 0.22168
NM_001845.6(COL4A1):c.4150+302C>T rs7990499 0.22101
NM_001845.6(COL4A1):c.780+128T>A rs12867220 0.22094
NM_001845.6(COL4A1):c.85-69T>C rs41275106 0.16699
NM_001845.6(COL4A1):c.3877-277A>G rs1470428 0.15502
NM_001845.6(COL4A1):c.4640+231C>T rs77120970 0.14860
NM_001845.6(COL4A1):c.4640+300C>T rs72652096 0.14816
NM_001845.6(COL4A1):c.4640+294C>T rs72652097 0.14809
NM_001845.6(COL4A1):c.4640+16G>A rs2275842 0.14797
NM_001845.6(COL4A1):c.4640+7C>T rs2275843 0.14797
NM_001845.6(COL4A1):c.4463-275G>T rs16975420 0.13900
NM_001845.6(COL4A1):c.234+8C>T rs9521650 0.13807
NM_001845.6(COL4A1):c.84+160T>C rs12429420 0.13673
NM_001845.6(COL4A1):c.4151-189C>G rs2298241 0.13558
NM_001845.6(COL4A1):c.4800C>T (p.Ser1600=) rs650724 0.13448
NM_001845.6(COL4A1):c.2716+99C>T rs2305081 0.12961
NM_001845.6(COL4A1):c.4462+237A>G rs12428089 0.12814
NM_001845.6(COL4A1):c.3557-203A>G rs16975450 0.12549
NM_001845.6(COL4A1):c.4250-134T>C rs16975424 0.11806
NM_001845.6(COL4A1):c.958-140T>A rs7327728 0.11568
NM_001845.6(COL4A1):c.469-127C>T rs2166208 0.10800
NM_001845.6(COL4A1):c.1991-16G>A rs72654112 0.10351
NM_001845.6(COL4A1):c.2194-69C>T rs2131939 0.09298
NM_001845.6(COL4A1):c.3876+102A>G rs59694732 0.09138
NM_001845.6(COL4A1):c.1382-205C>T rs79557548 0.09044
NM_001845.6(COL4A1):c.469-273_469-272insG rs139549326 0.08797
NM_001845.6(COL4A1):c.615+242G>A rs77370634 0.08426
NM_001845.6(COL4A1):c.1815T>C (p.Pro605=) rs61749897 0.07832
NM_001845.6(COL4A1):c.3406+122C>T rs639411 0.07763
NM_001845.6(COL4A1):c.3407-54G>A rs630968 0.07747
NM_001845.6(COL4A1):c.2194-98A>G rs10492497 0.07589
NM_001845.6(COL4A1):c.615+166G>A rs41275098 0.07274
NM_001845.6(COL4A1):c.3557-99C>T rs2275845 0.06663
NM_001845.6(COL4A1):c.2459-260C>T rs687368 0.06216
NM_001845.6(COL4A1):c.279+248T>C rs3737325 0.05430
NM_001845.6(COL4A1):c.616-215A>G rs9559745 0.05005
NM_001845.6(COL4A1):c.3506-211T>C rs682491 0.04510
NM_001845.6(COL4A1):c.3059-133A>G rs73609576 0.04154
NM_001845.6(COL4A1):c.2096-269A>G rs73611415 0.04032
NM_001845.6(COL4A1):c.2193+268C>G rs73611408 0.04028
NM_001845.6(COL4A1):c.145-221C>T rs9521651 0.03748
NM_001845.6(COL4A1):c.1465+58T>C rs17591246 0.03596
NM_001845.6(COL4A1):c.3407-48G>A rs76380326 0.03214
NM_001845.6(COL4A1):c.3059-37T>A rs73609574 0.03212
NM_001845.6(COL4A1):c.2344+84T>C rs480831 0.03204
NM_001845.6(COL4A1):c.4755+170C>T rs77367271 0.02970
NM_001845.6(COL4A1):c.387+243G>C rs11841587 0.02860
NM_001845.6(COL4A1):c.1084+240G>A rs3742205 0.02734
NM_001845.6(COL4A1):c.1120+120G>A rs78100269 0.02496
NM_001845.6(COL4A1):c.858+20C>T rs73611469 0.02471
NM_001845.6(COL4A1):c.388-168T>C rs11838788 0.02444
NM_001845.6(COL4A1):c.1000-189G>A rs114288890 0.02360
NM_001845.6(COL4A1):c.958-9C>T rs73611465 0.02279
NM_001845.6(COL4A1):c.651+121C>T rs114487765 0.02257
NM_001845.6(COL4A1):c.1000-199G>A rs144373164 0.02181
NM_001845.6(COL4A1):c.615+159G>A rs7332823 0.02173
NM_001845.6(COL4A1):c.693+189C>T rs75247120 0.02169
NM_001845.6(COL4A1):c.693+40C>T rs79476579 0.02160
NM_001845.6(COL4A1):c.1000-276T>C rs146115384 0.02151
NM_001845.6(COL4A1):c.235-23A>G rs56294719 0.02130
NM_001845.6(COL4A1):c.1084+5C>G rs74508743 0.02118
NM_001845.6(COL4A1):c.1084+90C>T rs114047868 0.02116
NM_001845.6(COL4A1):c.388-170T>C rs79824508 0.02110
NM_001845.6(COL4A1):c.3557-308A>C rs677858 0.02087
NM_001845.6(COL4A1):c.3506-157G>A rs682881 0.02072
NM_001845.6(COL4A1):c.3506-213G>A rs615731 0.02071
NM_001845.6(COL4A1):c.651+119A>C rs114198011 0.02046
NM_001845.6(COL4A1):c.442-48A>G rs73611484 0.02039
NM_001845.6(COL4A1):c.693+185A>G rs73611475 0.02039
NM_001845.6(COL4A1):c.441+34del rs144567976 0.02022
NM_001845.6(COL4A1):c.4928+68G>A rs8000795 0.01871
NM_001845.6(COL4A1):c.3950-78A>G rs9588106 0.01868
NM_001845.6(COL4A1):c.2458+207dup rs58452196 0.01720
NM_001845.6(COL4A1):c.4462+151C>T rs751125 0.01717
NM_001845.6(COL4A1):c.501C>T (p.Pro167=) rs16975612 0.01708
NM_001845.6(COL4A1):c.4151-165del rs146941348 0.01703
NM_001845.6(COL4A1):c.4151-235G>A rs60279490 0.01695
NM_001845.6(COL4A1):c.2716+260G>T rs56896070 0.01626
NM_001845.6(COL4A1):c.1536+251C>T rs73611449 0.01618
NM_001845.6(COL4A1):c.3198+170C>G rs61661904 0.01592
NM_001845.6(COL4A1):c.2124G>A (p.Gly708=) rs78426988 0.01512
NM_001845.6(COL4A1):c.1000-13C>G rs115358624 0.01174
NM_001845.6(COL4A1):c.2096-24T>G rs77875306 0.00849
NM_001845.6(COL4A1):c.3996C>T (p.Gly1332=) rs150857429 0.00816
NM_001845.6(COL4A1):c.3693G>A (p.Thr1231=) rs117738194 0.00782
NM_001845.6(COL4A1):c.4640+51C>T rs3825480 0.00694
NM_001845.6(COL4A1):c.393G>A (p.Glu131=) rs34458255 0.00546
NM_001845.6(COL4A1):c.3776C>G (p.Pro1259Arg) rs146329532 0.00352
NM_001845.6(COL4A1):c.161C>T (p.Pro54Leu) rs34004222 0.00274
NM_001845.6(COL4A1):c.4250-43C>T rs12585906 0.00237
NM_001845.6(COL4A1):c.2647G>A (p.Val883Ile) rs41275090 0.00180
NM_001845.6(COL4A1):c.4229T>C (p.Met1410Thr) rs200734000 0.00061
NM_001845.6(COL4A1):c.3877-30C>A rs367688295 0.00006
NM_001845.6(COL4A1):c.145-90_145-89insTAT rs146035833
NM_001845.6(COL4A1):c.1465+100G>A rs7337040
NM_001845.6(COL4A1):c.1465+181T>C rs9515163
NM_001845.6(COL4A1):c.2096-163A>G rs9521634
NM_001845.6(COL4A1):c.2096-16del rs112508409
NM_001845.6(COL4A1):c.2344+104G>C rs73609595
NM_001845.6(COL4A1):c.280-158TG[3] rs113274692
NM_001845.6(COL4A1):c.2969-31A>G rs1975514
NM_001845.6(COL4A1):c.3506-147C>A rs17517598
NM_001845.6(COL4A1):c.3876+104GT[15] rs3832901
NM_001845.6(COL4A1):c.3876+104GT[16] rs3832901
NM_001845.6(COL4A1):c.3876+104GT[17] rs3832901
NM_001845.6(COL4A1):c.3876+104GT[18] rs3832901
NM_001845.6(COL4A1):c.3876+104GT[19] rs3832901
NM_001845.6(COL4A1):c.3876+160TCTT[3] rs3832902
NM_001845.6(COL4A1):c.4002A>C (p.Gln1334His) rs3742207
NM_001845.6(COL4A1):c.4150+201del rs11289908
NM_001845.6(COL4A1):c.4249+137G>C rs2298240
NM_001845.6(COL4A1):c.4463-299_4463-298dup rs113466690
NM_001845.6(COL4A1):c.4641-32G>A rs617111
NM_001845.6(COL4A1):c.468+5ATTTT[2] rs3832900
NM_001845.6(COL4A1):c.469-191C>T rs76574181
NM_001845.6(COL4A1):c.4755+60G>C rs2275841
NM_001845.6(COL4A1):c.4928+226C>T rs2298237
NM_001845.6(COL4A1):c.651+118_651+119insTCTT rs35638294
NM_001845.6(COL4A1):c.651+230_651+231del rs10590627
NM_001845.6(COL4A1):c.651+91_651+92insTG rs35906431
NM_001845.6(COL4A1):c.693+98_693+99del rs35092560
NM_001845.6(COL4A1):c.781-79del rs60585275
NM_001845.6(COL4A1):c.808-7C>A rs9588116
NM_001845.6(COL4A1):c.808-7C>G rs9588116
NM_001845.6(COL4A1):c.85-227del rs146789274
NM_001845.6(COL4A1):c.958-131T>C rs648263
NM_001845.6(COL4A1):c.958-242_958-239del rs58390470
NM_001845.6(COL4A1):c.999+236C>A rs538390

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