ClinVar Miner

List of variants in gene COL5A1 reported as benign by GeneDx

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 217
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HGVS dbSNP
NC_000009.12:g.134641788C>G rs12002679
NC_000009.12:g.134829854del rs57187666
NM_000093.5(COL5A1):c.1390-18CT[3] rs863223441
NM_000093.5(COL5A1):c.1588G>A (p.Gly530Ser) rs61735045
NM_001278074.1(COL5A1):c.-15C>A rs587780907
NM_001278074.1(COL5A1):c.-247T>G rs71483234
NM_001278074.1(COL5A1):c.-37G>A rs374979485
NM_001278074.1(COL5A1):c.1062C>T (p.Asp354=) rs61737708
NM_001278074.1(COL5A1):c.1077G>A (p.Glu359=) rs201166370
NM_001278074.1(COL5A1):c.109+37G>A rs186654380
NM_001278074.1(COL5A1):c.1092C>T (p.Pro364=) rs41306391
NM_001278074.1(COL5A1):c.110-178G>A rs16832
NM_001278074.1(COL5A1):c.110-19T>C rs148294644
NM_001278074.1(COL5A1):c.110-271C>T rs10858268
NM_001278074.1(COL5A1):c.1158C>T (p.Ser386=) rs61729497
NM_001278074.1(COL5A1):c.1164+134A>C rs3128600
NM_001278074.1(COL5A1):c.1164+87T>A rs142673093
NM_001278074.1(COL5A1):c.1165-149C>T rs3124309
NM_001278074.1(COL5A1):c.1165-39G>A rs76548907
NM_001278074.1(COL5A1):c.1224G>C (p.Thr408=) rs139406076
NM_001278074.1(COL5A1):c.126C>T (p.Leu42=) rs149369116
NM_001278074.1(COL5A1):c.1281G>A (p.Pro427=) rs147292897
NM_001278074.1(COL5A1):c.1293G>T (p.Gly431=) rs373460629
NM_001278074.1(COL5A1):c.12T>C (p.His4=) rs368818087
NM_001278074.1(COL5A1):c.1332+46T>C rs3109675
NM_001278074.1(COL5A1):c.1332+92C>G rs3124310
NM_001278074.1(COL5A1):c.1333-8A>G rs145620416
NM_001278074.1(COL5A1):c.1350C>T (p.Gly450=) rs576332528
NM_001278074.1(COL5A1):c.1383C>T (p.Ile461=) rs61736827
NM_001278074.1(COL5A1):c.1390-259G>A rs78731511
NM_001278074.1(COL5A1):c.1390-305C>T rs7031437
NM_001278074.1(COL5A1):c.1431G>A (p.Ala477=) rs61729545
NM_001278074.1(COL5A1):c.1432-24C>T rs3109677
NM_001278074.1(COL5A1):c.1432-5T>C rs3128612
NM_001278074.1(COL5A1):c.1440C>T (p.Pro480=) rs150940930
NM_001278074.1(COL5A1):c.1539C>T (p.Pro513=) rs151173863
NM_001278074.1(COL5A1):c.1566G>A (p.Leu522=) rs61737941
NM_001278074.1(COL5A1):c.1569+15C>T rs62574081
NM_001278074.1(COL5A1):c.1569+16A>G rs12685946
NM_001278074.1(COL5A1):c.1570-59T>C rs12686426
NM_001278074.1(COL5A1):c.1590C>T (p.Gly530=) rs769010469
NM_001278074.1(COL5A1):c.1662+252G>A rs12345547
NM_001278074.1(COL5A1):c.1720-111G>A rs73558066
NM_001278074.1(COL5A1):c.1720-157C>T rs73664130
NM_001278074.1(COL5A1):c.1720-158C>G rs73664129
NM_001278074.1(COL5A1):c.1720-34C>T rs73558067
NM_001278074.1(COL5A1):c.1720-48T>C rs10123014
NM_001278074.1(COL5A1):c.1774-73A>G rs11103501
NM_001278074.1(COL5A1):c.1774-7C>A rs371941850
NM_001278074.1(COL5A1):c.1827+295A>G rs12685536
NM_001278074.1(COL5A1):c.1828-170C>T rs12004527
NM_001278074.1(COL5A1):c.1828-297T>C rs10124864
NM_001278074.1(COL5A1):c.1881+292G>A rs7025035
NM_001278074.1(COL5A1):c.1882-133A>G rs113765880
NM_001278074.1(COL5A1):c.1882-256C>T rs75558962
NM_001278074.1(COL5A1):c.1896C>T (p.Phe632=) rs376478864
NM_001278074.1(COL5A1):c.1935+127G>C rs56125517
NM_001278074.1(COL5A1):c.1935+12C>T rs368245632
NM_001278074.1(COL5A1):c.1935+133A>T rs79294927
NM_001278074.1(COL5A1):c.1935+8T>G rs79195626
NM_001278074.1(COL5A1):c.1936-299C>T rs77630402
NM_001278074.1(COL5A1):c.1953C>T (p.Ser651=) rs78215347
NM_001278074.1(COL5A1):c.1977C>T (p.Asp659=) rs370766020
NM_001278074.1(COL5A1):c.1989+279T>C rs11103509
NM_001278074.1(COL5A1):c.1990-219G>A rs11103510
NM_001278074.1(COL5A1):c.1998C>T (p.Asp666=) rs143858735
NM_001278074.1(COL5A1):c.2031G>A (p.Glu677=) rs61737719
NM_001278074.1(COL5A1):c.2034+256C>T rs73664133
NM_001278074.1(COL5A1):c.2058G>A (p.Pro686=) rs143443499
NM_001278074.1(COL5A1):c.2088+227G>A rs12351175
NM_001278074.1(COL5A1):c.2089-288C>T rs79878246
NM_001278074.1(COL5A1):c.2089-9C>T rs181246690
NM_001278074.1(COL5A1):c.2134-116T>C rs4842159
NM_001278074.1(COL5A1):c.2134-11G>C rs369317619
NM_001278074.1(COL5A1):c.2134-238A>G rs4842157
NM_001278074.1(COL5A1):c.2232+36C>T rs45622539
NM_001278074.1(COL5A1):c.2233-62G>T rs4842162
NM_001278074.1(COL5A1):c.2268C>T (p.Pro756=) rs367755808
NM_001278074.1(COL5A1):c.2286+146T>C rs10776901
NM_001278074.1(COL5A1):c.2286+66A>G rs10776900
NM_001278074.1(COL5A1):c.2287-260T>G rs12685359
NM_001278074.1(COL5A1):c.2310T>A (p.Pro770=) rs377123592
NM_001278074.1(COL5A1):c.2331+16G>A rs199654385
NM_001278074.1(COL5A1):c.2331+191G>C rs7470855
NM_001278074.1(COL5A1):c.2332-291G>A rs4842165
NM_001278074.1(COL5A1):c.2385+250G>T rs72774445
NM_001278074.1(COL5A1):c.2386-7C>T rs746845504
NM_001278074.1(COL5A1):c.240C>T (p.Asp80=) rs79724538
NM_001278074.1(COL5A1):c.2430+196C>T rs75545068
NM_001278074.1(COL5A1):c.2430+20C>T rs3124932
NM_001278074.1(COL5A1):c.2430+290A>G rs34226173
NM_001278074.1(COL5A1):c.2439C>T (p.Asp813=) rs148648778
NM_001278074.1(COL5A1):c.2484+118G>A rs55633279
NM_001278074.1(COL5A1):c.2485-11C>T rs756350498
NM_001278074.1(COL5A1):c.2485-146T>C rs7865186
NM_001278074.1(COL5A1):c.2485-147G>C rs7873607
NM_001278074.1(COL5A1):c.2485-160C>T rs7855854
NM_001278074.1(COL5A1):c.2485-183T>A rs7865167
NM_001278074.1(COL5A1):c.2485-191C>A rs7855838
NM_001278074.1(COL5A1):c.2485-34_2485-33insGGCA rs376936600
NM_001278074.1(COL5A1):c.2485-39_2485-38insT rs779225921
NM_001278074.1(COL5A1):c.2485-39_2485-38insTGT rs779225921
NM_001278074.1(COL5A1):c.252C>T (p.Ser84=) rs151293601
NM_001278074.1(COL5A1):c.2592+16C>G rs145429817
NM_001278074.1(COL5A1):c.2592+209T>C rs12005214
NM_001278074.1(COL5A1):c.2592+288C>T rs12003876
NM_001278074.1(COL5A1):c.2592+293A>G rs12004736
NM_001278074.1(COL5A1):c.2592+298G>A rs71506922
NM_001278074.1(COL5A1):c.2593-253A>C rs34089816
NM_001278074.1(COL5A1):c.2593-45G>A rs45497895
NM_001278074.1(COL5A1):c.2646+144T>C rs3124934
NM_001278074.1(COL5A1):c.2646+287G>A rs13286048
NM_001278074.1(COL5A1):c.2701-103C>A rs41306388
NM_001278074.1(COL5A1):c.2701-186T>C rs114433844
NM_001278074.1(COL5A1):c.2701-22C>T rs4072883
NM_001278074.1(COL5A1):c.2701-301G>A rs75633644
NM_001278074.1(COL5A1):c.2724G>A (p.Pro908=) rs41310207
NM_001278074.1(COL5A1):c.2745+15A>T rs79481146
NM_001278074.1(COL5A1):c.2745+66A>G rs4072882
NM_001278074.1(COL5A1):c.277+6T>G rs201910803
NM_001278074.1(COL5A1):c.278-224T>C rs79433864
NM_001278074.1(COL5A1):c.2799+11G>A rs377322092
NM_001278074.1(COL5A1):c.2799+13C>A rs75668257
NM_001278074.1(COL5A1):c.2799+153C>T rs4842167
NM_001278074.1(COL5A1):c.2799+22C>T rs76855839
NM_001278074.1(COL5A1):c.2799+4T>C rs75815945
NM_001278074.1(COL5A1):c.279G>A (p.Ala93=) rs145090868
NM_001278074.1(COL5A1):c.2800-172T>C rs10776902
NM_001278074.1(COL5A1):c.2800-18C>A rs73664144
NM_001278074.1(COL5A1):c.2844+163T>G rs3811162
NM_001278074.1(COL5A1):c.2844+20G>A rs200916696
NM_001278074.1(COL5A1):c.2844+41G>T rs76043837
NM_001278074.1(COL5A1):c.2845-117A>G rs3811161
NM_001278074.1(COL5A1):c.2845-37A>G rs3811159
NM_001278074.1(COL5A1):c.2845-70A>G rs3811160
NM_001278074.1(COL5A1):c.2852A>G (p.Asn951Ser) rs61736966
NM_001278074.1(COL5A1):c.2892C>T (p.Gly964=) rs78511105
NM_001278074.1(COL5A1):c.2898+116G>A rs72774465
NM_001278074.1(COL5A1):c.2898+287TC[3] rs10636721
NM_001278074.1(COL5A1):c.2899-261G>A rs10776905
NM_001278074.1(COL5A1):c.2899-273C>T rs62571397
NM_001278074.1(COL5A1):c.2899-318A>G rs10745385
NM_001278074.1(COL5A1):c.2952+11A>T rs4240707
NM_001278074.1(COL5A1):c.2953-235AG[3] rs56665904
NM_001278074.1(COL5A1):c.3007-36C>G rs73561924
NM_001278074.1(COL5A1):c.3114+12G>C rs528913410
NM_001278074.1(COL5A1):c.3231A>G (p.Glu1077=) rs376248130
NM_001278074.1(COL5A1):c.3258+150A>G rs62571404
NM_001278074.1(COL5A1):c.3259-22C>T rs78743504
NM_001278074.1(COL5A1):c.3291C>T (p.Ala1097=) rs371821655
NM_001278074.1(COL5A1):c.3303C>T (p.Ile1101=) rs760754491
NM_001278074.1(COL5A1):c.3345G>A (p.Pro1115=) rs764683617
NM_001278074.1(COL5A1):c.3366+11C>T rs863223438
NM_001278074.1(COL5A1):c.3367-280T>G rs11103534
NM_001278074.1(COL5A1):c.3474+255G>A rs11103536
NM_001278074.1(COL5A1):c.3474+64G>A rs41310211
NM_001278074.1(COL5A1):c.3474+7C>T rs550497696
NM_001278074.1(COL5A1):c.3475-299A>G rs3811153
NM_001278074.1(COL5A1):c.3528+295T>C rs34766531
NM_001278074.1(COL5A1):c.3529-172G>A rs73664146
NM_001278074.1(COL5A1):c.3591C>T (p.Asp1197=) rs370349155
NM_001278074.1(COL5A1):c.3691-9T>C rs187584029
NM_001278074.1(COL5A1):c.3745-18G>A rs45556931
NM_001278074.1(COL5A1):c.378G>T (p.Gln126His) rs145178917
NM_001278074.1(COL5A1):c.3852+181A>G rs73664148
NM_001278074.1(COL5A1):c.3855C>T (p.Gly1285=) rs139544503
NM_001278074.1(COL5A1):c.3888G>A (p.Pro1296=) rs375631252
NM_001278074.1(COL5A1):c.3906+10C>T rs183881247
NM_001278074.1(COL5A1):c.3906+14C>T rs377136680
NM_001278074.1(COL5A1):c.3906+19C>T rs571788196
NM_001278074.1(COL5A1):c.3906+20G>A rs148053413
NM_001278074.1(COL5A1):c.3907-258A>G rs4841933
NM_001278074.1(COL5A1):c.4015-19C>T rs527971001
NM_001278074.1(COL5A1):c.4065C>T (p.Pro1355=) rs61737906
NM_001278074.1(COL5A1):c.4068+7G>A rs587780905
NM_001278074.1(COL5A1):c.4122+287G>A rs9942862
NM_001278074.1(COL5A1):c.4122G>A (p.Thr1374=) rs3827848
NM_001278074.1(COL5A1):c.4135C>T (p.Pro1379Ser) rs61739195
NM_001278074.1(COL5A1):c.4176+257C>G rs11103537
NM_001278074.1(COL5A1):c.4176+9T>G rs10858282
NM_001278074.1(COL5A1):c.4230+5C>T rs142248898
NM_001278074.1(COL5A1):c.4230+6G>A rs77176843
NM_001278074.1(COL5A1):c.4231-12G>A rs188473199
NM_001278074.1(COL5A1):c.4231-183G>A rs73664150
NM_001278074.1(COL5A1):c.4231-228G>A rs77174824
NM_001278074.1(COL5A1):c.4308G>A (p.Pro1436=) rs200073020
NM_001278074.1(COL5A1):c.4374C>T (p.Asp1458=) rs201335857
NM_001278074.1(COL5A1):c.4383C>T (p.Pro1461=) rs368551709
NM_001278074.1(COL5A1):c.4393-17C>T rs141152269
NM_001278074.1(COL5A1):c.4393-19C>T rs186732287
NM_001278074.1(COL5A1):c.4393-9C>T rs11792181
NM_001278074.1(COL5A1):c.4410C>T (p.Pro1470=) rs41310953
NM_001278074.1(COL5A1):c.4446+134A>C rs9696591
NM_001278074.1(COL5A1):c.491+271C>T rs11103470
NM_001278074.1(COL5A1):c.492-280C>T rs10858272
NM_001278074.1(COL5A1):c.492-56T>C rs4341231
NM_001278074.1(COL5A1):c.573C>T (p.Leu191=) rs116715381
NM_001278074.1(COL5A1):c.574G>A (p.Asp192Asn) rs138579182
NM_001278074.1(COL5A1):c.654+213C>T rs3922644
NM_001278074.1(COL5A1):c.654+73G>A rs4523334
NM_001278074.1(COL5A1):c.655-142G>A rs3124298
NM_001278074.1(COL5A1):c.655-320G>A rs62571354
NM_001278074.1(COL5A1):c.738C>T (p.Thr246=) rs3124299
NM_001278074.1(COL5A1):c.761C>T (p.Ser254Leu) rs144844792
NM_001278074.1(COL5A1):c.786+182T>G rs3109683
NM_001278074.1(COL5A1):c.786+271G>C rs3128587
NM_001278074.1(COL5A1):c.787-15G>A rs150200872
NM_001278074.1(COL5A1):c.787-180G>A rs3128595
NM_001278074.1(COL5A1):c.787-42C>T rs3124302
NM_001278074.1(COL5A1):c.804C>T (p.Gly268=) rs147729713
NM_001278074.1(COL5A1):c.924+13C>T rs199836060
NM_001278074.1(COL5A1):c.924+14G>A rs200595318
NM_001278074.1(COL5A1):c.924+194A>C rs3128597
NM_001278074.1(COL5A1):c.924+35C>A rs112243377
NM_001278074.1(COL5A1):c.925-43G>A rs3128598
NM_001278074.1(COL5A1):c.925-49A>G rs3124308
NM_001278074.1(COL5A1):c.996C>T (p.Asp332=) rs144763302

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