ClinVar Miner

List of variants in gene COL5A1 reported as benign for not provided

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 270
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HGVS dbSNP gnomAD frequency
NM_000093.5(COL5A1):c.-247T>G rs71483234 0.99656
NM_000093.5(COL5A1):c.1390-305C>T rs7031437 0.97630
NM_000093.5(COL5A1):c.2646+144T>C rs3124934 0.96592
NM_000093.5(COL5A1):c.3258+156A>G rs7851471 0.69415
NM_000093.5(COL5A1):c.2844+163T>G rs3811162 0.66569
NM_000093.5(COL5A1):c.2800-172T>C rs10776902 0.66479
NM_000093.5(COL5A1):c.2799+153C>T rs4842167 0.66178
NM_000093.5(COL5A1):c.2745+66A>G rs4072882 0.65546
NM_000093.5(COL5A1):c.2701-22C>T rs4072883 0.65253
NM_000093.5(COL5A1):c.1332+92C>G rs3124310 0.64521
NM_000093.5(COL5A1):c.4122+108T>C rs4841934 0.64323
NM_000093.5(COL5A1):c.3691-237T>A rs10745387 0.63434
NM_000093.5(COL5A1):c.3907-258A>G rs4841933 0.63332
NM_000093.5(COL5A1):c.2134-116T>C rs4842159 0.62628
NM_000093.5(COL5A1):c.3852+224G>A rs7874142 0.62280
NM_000093.5(COL5A1):c.4230+103T>C rs11792894 0.61932
NM_000093.5(COL5A1):c.3006+179C>A rs10858281 0.61690
NM_000093.5(COL5A1):c.110-271C>T rs10858268 0.59224
NM_000093.5(COL5A1):c.492-56T>C rs4341231 0.58442
NM_000093.5(COL5A1):c.110-178G>A rs16832 0.57909
NM_000093.5(COL5A1):c.1432-5T>C rs3128612 0.57159
NM_000093.5(COL5A1):c.1432-24C>T rs3109677 0.57123
NM_000093.5(COL5A1):c.654+213C>T rs3922644 0.56789
NM_000093.5(COL5A1):c.2845-70A>G rs3811160 0.54556
NM_000093.5(COL5A1):c.2845-117A>G rs3811161 0.51750
NM_000093.5(COL5A1):c.2899-318A>G rs10745385 0.51352
NM_000093.5(COL5A1):c.2899-261G>A rs10776905 0.51351
NM_000093.5(COL5A1):c.2952+11A>T rs4240707 0.51337
NM_000093.5(COL5A1):c.2952+109_2952+192del rs377172921 0.50808
NM_000093.5(COL5A1):c.3852+62C>G rs7856170 0.50381
NM_000093.5(COL5A1):c.4446+62G>A rs10745388 0.48801
NM_000093.5(COL5A1):c.2845-37A>G rs3811159 0.48658
NM_000093.5(COL5A1):c.3528+55G>A rs3827849 0.48522
NM_000093.5(COL5A1):c.4176+48A>G rs10858283 0.47462
NM_000093.5(COL5A1):c.4176+35A>C rs10776910 0.47443
NM_000093.5(COL5A1):c.3475-299A>G rs3811153 0.44669
NM_000093.5(COL5A1):c.3474+255G>A rs11103536 0.42977
NM_000093.5(COL5A1):c.1332+46T>C rs3109675 0.41683
NM_000093.5(COL5A1):c.1164+134A>C rs3128600 0.40954
NM_000093.5(COL5A1):c.786+182T>G rs3109683 0.39446
NM_000093.3(COL5A1):c.-400C>G rs12002679 0.39350
NM_000093.5(COL5A1):c.787-42C>T rs3124302 0.39339
NM_000093.5(COL5A1):c.1165-149C>T rs3124309 0.39306
NM_000093.5(COL5A1):c.787-180G>A rs3128595 0.39304
NM_000093.5(COL5A1):c.925-49A>G rs3124308 0.39183
NM_000093.5(COL5A1):c.925-43G>A rs3128598 0.39167
NM_000093.5(COL5A1):c.2898+116G>A rs72774465 0.39049
NM_000093.5(COL5A1):c.786+271G>C rs3128587 0.38975
NM_000093.5(COL5A1):c.654+201C>T rs3922643 0.38719
NM_000093.5(COL5A1):c.2233-62G>T rs4842162 0.38133
NM_000093.5(COL5A1):c.655-320G>A rs62571354 0.37510
NM_000093.5(COL5A1):c.2286+66A>G rs10776900 0.37340
NM_000093.5(COL5A1):c.2286+146T>C rs10776901 0.37322
NM_000093.5(COL5A1):c.2430+20C>T rs3124932 0.36473
NM_000093.5(COL5A1):c.655-142G>A rs3124298 0.36165
NM_000093.5(COL5A1):c.738C>T (p.Thr246=) rs3124299 0.34823
NM_000093.5(COL5A1):c.4230+118C>T rs7847840 0.32683
NM_000093.5(COL5A1):c.2187+106A>T rs4842160 0.32064
NM_000093.5(COL5A1):c.4176+9T>G rs10858282 0.31743
NM_000093.5(COL5A1):c.2287-260T>G rs12685359 0.28458
NM_000093.5(COL5A1):c.2331+191G>C rs7470855 0.28320
NM_000093.5(COL5A1):c.1720-48T>C rs10123014 0.27505
NM_000093.5(COL5A1):c.3367-280T>G rs11103534 0.23071
NM_000093.5(COL5A1):c.3475-42G>C rs3811152 0.22492
NM_000093.5(COL5A1):c.1570-59T>C rs12686426 0.22376
NM_000093.5(COL5A1):c.1720-157C>T rs73664130 0.21507
NM_000093.5(COL5A1):c.1720-34C>T rs73558067 0.20873
NM_000093.5(COL5A1):c.1720-111G>A rs73558066 0.20841
NM_000093.5(COL5A1):c.2332-291G>A rs4842165 0.20572
NM_000093.5(COL5A1):c.2898+179C>T rs7863390 0.20363
NM_000093.5(COL5A1):c.1332+25C>T rs56385965 0.19286
NM_000093.5(COL5A1):c.4177-107T>C rs7854010 0.19207
NM_000093.5(COL5A1):c.1774-73A>G rs11103501 0.19007
NM_000093.5(COL5A1):c.1827+295A>G rs12685536 0.18961
NM_000093.5(COL5A1):c.2386-134A>G rs34589987 0.18077
NM_000093.5(COL5A1):c.2431-122A>G rs34489567 0.16756
NM_000093.5(COL5A1):c.2484+196T>C rs35361637 0.16720
NM_000093.5(COL5A1):c.2431-25G>A rs41310213 0.16712
NM_000093.5(COL5A1):c.2592+148T>G rs12005196 0.16554
NM_000093.5(COL5A1):c.2431-172T>C rs59126004 0.16442
NM_000093.5(COL5A1):c.1663-170_1663-169insA rs1554792424 0.16319
NM_000093.5(COL5A1):c.2593-253A>C rs34089816 0.16263
NM_000093.5(COL5A1):c.2485-33T>G rs117948766 0.16181
NM_000093.5(COL5A1):c.1720-47C>T rs79679217 0.15948
NM_000093.5(COL5A1):c.3007-216G>A rs3811155 0.15408
NM_000093.5(COL5A1):c.1827+45G>A rs11103502 0.15221
NM_000093.5(COL5A1):c.1663-237G>A rs4842150 0.15184
NM_000093.5(COL5A1):c.4231-240G>A rs3811148 0.14915
NM_000093.5(COL5A1):c.2646+126T>C rs12005720 0.14817
NM_000093.5(COL5A1):c.2899-273C>T rs62571397 0.14675
NM_000093.5(COL5A1):c.4122G>A (p.Thr1374=) rs3827848 0.14130
NM_000093.5(COL5A1):c.2898+163G>T rs7851810 0.13940
NM_000093.5(COL5A1):c.1662+252G>A rs12345547 0.13798
NM_000093.5(COL5A1):c.2134-124G>A rs4842158 0.13174
NM_000093.5(COL5A1):c.1936-35C>A rs10858278 0.13121
NM_000093.5(COL5A1):c.1936-54A>C rs11103508 0.13116
NM_000093.5(COL5A1):c.1990-109C>T rs7040856 0.13115
NM_000093.5(COL5A1):c.1936-119G>T rs11103506 0.13114
NM_000093.5(COL5A1):c.1936-146T>C rs11103505 0.13114
NM_000093.5(COL5A1):c.1936-108G>A rs11103507 0.13104
NM_000093.5(COL5A1):c.2034+154G>A rs7032288 0.13073
NM_000093.5(COL5A1):c.1989+279T>C rs11103509 0.12217
NM_000093.5(COL5A1):c.2485-183T>A rs7865167 0.11222
NM_000093.5(COL5A1):c.2485-147G>C rs7873607 0.11196
NM_000093.5(COL5A1):c.277+74A>G rs12551860 0.11084
NM_000093.5(COL5A1):c.3529-60C>G rs73664147 0.11079
NM_000093.5(COL5A1):c.2485-160C>T rs7855854 0.11027
NM_000093.5(COL5A1):c.2485-146T>C rs7865186 0.11019
NM_000093.5(COL5A1):c.4122+287G>A rs9942862 0.10993
NM_000093.5(COL5A1):c.3745-37G>A rs45629034 0.10800
NM_000093.5(COL5A1):c.3745-18G>A rs45556931 0.10766
NM_000093.5(COL5A1):c.1936-227C>T rs11103504 0.10378
NM_000093.5(COL5A1):c.2034+256C>T rs73664133 0.09912
NM_000093.5(COL5A1):c.2485-40C>T rs76391270 0.09667
NM_000093.5(COL5A1):c.1569+27G>C rs41299046 0.09221
NM_000093.5(COL5A1):c.2484+118G>A rs55633279 0.09175
NM_000093.5(COL5A1):c.492-280C>T rs10858272 0.09126
NM_000093.5(COL5A1):c.2592+293A>G rs12004736 0.08587
NM_000093.5(COL5A1):c.2592+209T>C rs12005214 0.08559
NM_000093.5(COL5A1):c.2592+288C>T rs12003876 0.08547
NM_000093.5(COL5A1):c.3367-30G>A rs11103535 0.08424
NM_000093.5(COL5A1):c.2593-45G>A rs45497895 0.08250
NM_000093.5(COL5A1):c.1092C>T (p.Pro364=) rs41306391 0.08110
NM_000093.5(COL5A1):c.654+73G>A rs4523334 0.07864
NM_000093.5(COL5A1):c.2646+27C>T rs13301426 0.07414
NM_000093.5(COL5A1):c.1774-131C>T rs10121103 0.07243
NM_000093.5(COL5A1):c.110-34C>T rs72772548 0.07019
NM_000093.5(COL5A1):c.3852+181A>G rs73664148 0.06898
NM_000093.5(COL5A1):c.2430+290A>G rs34226173 0.06728
NM_000093.5(COL5A1):c.491+271C>T rs11103470 0.06592
NM_000093.5(COL5A1):c.2701-103C>A rs41306388 0.06560
NM_000093.5(COL5A1):c.1431G>A (p.Ala477=) rs61729545 0.06122
NM_000093.5(COL5A1):c.1828-170C>T rs12004527 0.06076
NM_000093.5(COL5A1):c.1990-219G>A rs11103510 0.05935
NM_000093.5(COL5A1):c.2089-210A>G rs12338381 0.05529
NM_000093.5(COL5A1):c.2385+250G>T rs72774445 0.05383
NM_000093.5(COL5A1):c.1935+133A>T rs79294927 0.05249
NM_000093.5(COL5A1):c.2287-203C>T rs12378156 0.05234
NM_000093.5(COL5A1):c.2646+287G>A rs13286048 0.05214
NM_000093.5(COL5A1):c.4446+134A>C rs9696591 0.05205
NM_000093.5(COL5A1):c.2088+231C>G rs4842156 0.05127
NM_000093.5(COL5A1):c.3529-172G>A rs73664146 0.05055
NM_000093.5(COL5A1):c.2089-288C>T rs79878246 0.05022
NM_000093.5(COL5A1):c.4231-183G>A rs73664150 0.04882
NM_000093.5(COL5A1):c.3474+64G>A rs41310211 0.04849
NM_000093.5(COL5A1):c.2745+15A>T rs79481146 0.04340
NM_000093.5(COL5A1):c.2701-301G>A rs75633644 0.04314
NM_000093.5(COL5A1):c.1390-259G>A rs78731511 0.04043
NM_000093.5(COL5A1):c.1882-56G>A rs77607202 0.04010
NM_000093.5(COL5A1):c.278-224T>C rs79433864 0.03948
NM_000093.5(COL5A1):c.2592+298G>A rs71506922 0.03939
NM_000093.5(COL5A1):c.3528+72T>A rs34963836 0.03939
NM_000093.5(COL5A1):c.3528+95G>A rs34571096 0.03934
NM_000093.5(COL5A1):c.3475-228A>G rs13297317 0.03933
NM_000093.5(COL5A1):c.3475-66C>T rs13289529 0.03930
NM_000093.5(COL5A1):c.3528+295T>C rs34766531 0.03930
NM_000093.5(COL5A1):c.3528+155G>A rs34469754 0.03928
NM_000093.5(COL5A1):c.3475-179A>C rs13297349 0.03925
NM_000093.5(COL5A1):c.3528+234C>T rs34313900 0.03925
NM_000093.5(COL5A1):c.3475-36A>C rs13297647 0.03921
NM_000093.5(COL5A1):c.3528+43G>A rs41306395 0.03911
NM_000093.5(COL5A1):c.3691-213T>C rs13293801 0.03911
NM_000093.5(COL5A1):c.1935+127G>C rs56125517 0.03894
NM_000093.5(COL5A1):c.2331+140G>A rs34911100 0.03892
NM_000093.5(COL5A1):c.2700+46C>T rs34636935 0.03889
NM_000093.5(COL5A1):c.3259-22C>T rs78743504 0.03819
NM_000093.5(COL5A1):c.1165-39G>A rs76548907 0.03667
NM_000093.5(COL5A1):c.4230+212C>T rs34816825 0.03648
NM_000093.5(COL5A1):c.4231-228G>A rs77174824 0.03495
NM_000093.5(COL5A1):c.3258+150A>G rs62571404 0.03394
NM_000093.5(COL5A1):c.491+208T>A rs7857638 0.03354
NM_000093.5(COL5A1):c.2799+22C>T rs76855839 0.03193
NM_000093.5(COL5A1):c.2088+73G>A rs12351135 0.03172
NM_000093.5(COL5A1):c.2892C>T (p.Gly964=) rs78511105 0.03168
NM_000093.5(COL5A1):c.1588G>A (p.Gly530Ser) rs61735045 0.03116
NM_000093.5(COL5A1):c.4176+163T>A rs76226836 0.03071
NM_000093.5(COL5A1):c.3007-36C>G rs73561924 0.02919
NM_000093.5(COL5A1):c.2088+91C>T rs111995030 0.02856
NM_000093.5(COL5A1):c.1828-297T>C rs10124864 0.02813
NM_000093.5(COL5A1):c.4230+6G>A rs77176843 0.02700
NM_000093.5(COL5A1):c.277+57A>G rs141489397 0.02688
NM_000093.5(COL5A1):c.4393-9C>T rs11792181 0.02555
NM_000093.5(COL5A1):c.2724G>A (p.Pro908=) rs41310207 0.02534
NM_000093.5(COL5A1):c.2232+36C>T rs45622539 0.02468
NM_000093.5(COL5A1):c.1935+8T>G rs79195626 0.02373
NM_000093.5(COL5A1):c.1882-133A>G rs113765880 0.02356
NM_000093.5(COL5A1):c.1882-256C>T rs75558962 0.02342
NM_000093.5(COL5A1):c.574G>A (p.Asp192Asn) rs138579182 0.02227
NM_000093.5(COL5A1):c.3366+52G>A rs115451002 0.02142
NM_000093.5(COL5A1):c.2430+196C>T rs75545068 0.02124
NM_000093.5(COL5A1):c.1936-299C>T rs77630402 0.02064
NM_000093.5(COL5A1):c.2844+41G>T rs76043837 0.02031
NM_000093.5(COL5A1):c.1164+87T>A rs142673093 0.01946
NM_000093.5(COL5A1):c.2088+227G>A rs12351175 0.01940
NM_000093.5(COL5A1):c.109+37G>A rs186654380 0.01789
NM_000093.5(COL5A1):c.2701-186T>C rs114433844 0.01740
NM_000093.5(COL5A1):c.924+35C>A rs112243377 0.01719
NM_000093.5(COL5A1):c.2799+4T>C rs75815945 0.01279
NM_000093.5(COL5A1):c.2852A>G (p.Asn951Ser) rs61736966 0.00972
NM_000093.5(COL5A1):c.787-15G>A rs150200872 0.00704
NM_000093.5(COL5A1):c.4135C>T (p.Pro1379Ser) rs61739195 0.00598
NM_000093.5(COL5A1):c.4231-12G>A rs188473199 0.00543
NM_000093.5(COL5A1):c.3690+44C>T rs76739261 0.00524
NM_000093.5(COL5A1):c.4393-17C>T rs141152269 0.00515
NM_000093.5(COL5A1):c.-37G>A rs374979485 0.00508
NM_000093.5(COL5A1):c.1333-8A>G rs145620416 0.00360
NM_000093.5(COL5A1):c.278C>T (p.Ala93Val) rs41306397 0.00315
NM_000093.5(COL5A1):c.4410C>T (p.Pro1470=) rs41310953 0.00253
NM_000093.5(COL5A1):c.4176+50A>C rs571141215 0.00232
NM_000093.5(COL5A1):c.1432-32T>C rs75398357 0.00201
NM_000093.5(COL5A1):c.1158C>T (p.Ser386=) rs61729497 0.00194
NM_000093.5(COL5A1):c.4230+5C>T rs142248898 0.00182
NM_000093.5(COL5A1):c.193C>T (p.Arg65Trp) rs139468527 0.00124
NM_000093.5(COL5A1):c.1383C>T (p.Ile461=) rs61736827 0.00106
NM_000093.5(COL5A1):c.1953C>T (p.Ser651=) rs78215347 0.00101
NM_000093.5(COL5A1):c.61C>T (p.Pro21Ser) rs548525119 0.00094
NM_000093.5(COL5A1):c.3418G>A (p.Val1140Met) rs149616140 0.00087
NM_000093.5(COL5A1):c.1998C>T (p.Asp666=) rs143858735 0.00071
NM_000093.5(COL5A1):c.996C>T (p.Asp332=) rs144763302 0.00058
NM_000093.5(COL5A1):c.1889G>A (p.Arg630Gln) rs781667754 0.00010
NM_000093.5(COL5A1):c.1495-11C>A rs199501759 0.00008
NM_000093.5(COL5A1):c.1971G>A (p.Pro657=) rs981088114 0.00005
GRCh37/hg19 9q34.3(chr9:137648314-137664433)x1
GRCh37/hg19 9q34.3(chr9:137721555-137730384)x1
NM_000093.5(COL5A1):c.1191G>T (p.Ala397=) rs199755089
NM_000093.5(COL5A1):c.1494+129del rs112726102
NM_000093.5(COL5A1):c.1662+134T>C rs60008082
NM_000093.5(COL5A1):c.1663-158del rs11386016
NM_000093.5(COL5A1):c.1663-159_1663-158del rs11386016
NM_000093.5(COL5A1):c.1663-160G>T rs56669635
NM_000093.5(COL5A1):c.1663-160_1663-158del rs11386016
NM_000093.5(COL5A1):c.1663-166G>T rs112206433
NM_000093.5(COL5A1):c.1720-158C>G rs73664129
NM_000093.5(COL5A1):c.1881+292G>A rs7025035
NM_000093.5(COL5A1):c.2233-142G>C rs41302968
NM_000093.5(COL5A1):c.2331+247_2331+265dup rs6151208
NM_000093.5(COL5A1):c.2386-174C>T rs77928388
NM_000093.5(COL5A1):c.2386-210_2386-209del rs35886496
NM_000093.5(COL5A1):c.2485-191C>A rs7855838
NM_000093.5(COL5A1):c.2485-191C>T rs7855838
NM_000093.5(COL5A1):c.2485-34_2485-33insGGCA rs376936600
NM_000093.5(COL5A1):c.2485-34_2485-33insGGGGCA rs376936600
NM_000093.5(COL5A1):c.2485-39_2485-38insT rs779225921
NM_000093.5(COL5A1):c.2485-39_2485-38insTGT rs779225921
NM_000093.5(COL5A1):c.2592+16C>G rs145429817
NM_000093.5(COL5A1):c.2592+75G>A rs71506921
NM_000093.5(COL5A1):c.2799+112dup rs79903250
NM_000093.5(COL5A1):c.2800-18C>A rs73664144
NM_000093.5(COL5A1):c.2898+287TC[3] rs10636721
NM_000093.5(COL5A1):c.2898+53_2898+72del rs142676375
NM_000093.5(COL5A1):c.2953-153del rs35171316
NM_000093.5(COL5A1):c.2953-153dup rs35171316
NM_000093.5(COL5A1):c.2953-235AG[3] rs56665904
NM_000093.5(COL5A1):c.3474+48G>A rs79433650
NM_000093.5(COL5A1):c.3475-208G>T rs13293484
NM_000093.5(COL5A1):c.3528+46G>C rs3827850
NM_000093.5(COL5A1):c.3852+205del rs10708719
NM_000093.5(COL5A1):c.3852+47_3852+48del rs761727852
NM_000093.5(COL5A1):c.3852+48GT[8] rs375849402
NM_000093.5(COL5A1):c.3852+62_3852+65del rs538329277
NM_000093.5(COL5A1):c.3852+62_3852+69del rs879323430
NM_000093.5(COL5A1):c.4123-69A>G rs3811149
NM_000093.5(COL5A1):c.4176+162C>A rs79839026
NM_000093.5(COL5A1):c.4176+257C>G rs11103537
NM_000093.5(COL5A1):c.654+165T>G rs11103472
NM_000093.5(COL5A1):c.655-186_655-185insACGGATGGATGG rs139171326
NM_000093.5(COL5A1):c.655-219GGAT[7] rs71381829
NM_000093.5(COL5A1):c.655-219GGAT[9] rs71381829
NM_000093.5(COL5A1):c.787-9C>T rs751472921
NM_000093.5(COL5A1):c.924+194A>C rs3128597

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