ClinVar Miner

List of variants in gene COL5A1 reported by Ambry Genetics

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Gene type:
ClinVar version:
Total variants: 164
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HGVS dbSNP
NM_000093.5(COL5A1):c.1333-3dup rs773903401
NM_000093.5(COL5A1):c.1588G>A (p.Gly530Ser) rs61735045
NM_000093.5(COL5A1):c.2092_2093delinsCA (p.Val698His) rs1554796087
NM_001278074.1(COL5A1):c.1021G>A (p.Val341Met) rs756703956
NM_001278074.1(COL5A1):c.1024C>T (p.Pro342Ser) rs886039023
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.1092C>T (p.Pro364=) rs41306391
NM_001278074.1(COL5A1):c.1105G>C (p.Asp369His) rs777935807
NM_001278074.1(COL5A1):c.1140C>T (p.Thr380=) rs749315207
NM_001278074.1(COL5A1):c.1143C>T (p.Ala381=) rs200245996
NM_001278074.1(COL5A1):c.1158C>T (p.Ser386=) rs61729497
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.12T>C (p.His4=) rs368818087
NM_001278074.1(COL5A1):c.1303C>G (p.Pro435Ala) rs377488010
NM_001278074.1(COL5A1):c.1304C>T (p.Pro435Leu) rs772379819
NM_001278074.1(COL5A1):c.1307C>T (p.Ala436Val) rs144269434
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.1410G>C (p.Pro470=) rs148389741
NM_001278074.1(COL5A1):c.1429G>A (p.Ala477Thr) rs774936702
NM_001278074.1(COL5A1):c.1430C>T (p.Ala477Val) rs763650548
NM_001278074.1(COL5A1):c.1431G>A (p.Ala477=) rs61729545
NM_001278074.1(COL5A1):c.1432-5T>C rs3128612
NM_001278074.1(COL5A1):c.1507C>T (p.Arg503Cys) rs781485753
NM_001278074.1(COL5A1):c.1539C>T (p.Pro513=) rs151173863
NM_001278074.1(COL5A1):c.1556T>C (p.Met519Thr) rs202069285
NM_001278074.1(COL5A1):c.1561A>G (p.Met521Val) rs535161301
NM_001278074.1(COL5A1):c.1566G>A (p.Leu522=) rs61737941
NM_001278074.1(COL5A1):c.1637C>T (p.Ala546Val) rs557361751
NM_001278074.1(COL5A1):c.1752G>A (p.Glu584=) rs376865199
NM_001278074.1(COL5A1):c.1754C>T (p.Pro585Leu) rs530442560
NM_001278074.1(COL5A1):c.1780C>T (p.Arg594Ter) rs1554792869
NM_001278074.1(COL5A1):c.1805C>T (p.Pro602Leu) rs749007253
NM_001278074.1(COL5A1):c.1809C>T (p.Ala603=) rs371345820
NM_001278074.1(COL5A1):c.1900G>A (p.Gly634Ser) rs183627101
NM_001278074.1(COL5A1):c.191C>T (p.Thr64Met) rs777376620
NM_001278074.1(COL5A1):c.193C>T (p.Arg65Trp) rs139468527
NM_001278074.1(COL5A1):c.194G>A (p.Arg65Gln) rs116003670
NM_001278074.1(COL5A1):c.1953C>T (p.Ser651=) rs78215347
NM_001278074.1(COL5A1):c.2022G>C (p.Leu674=) rs552160454
NM_001278074.1(COL5A1):c.202T>C (p.Ser68Pro) rs1554780172
NM_001278074.1(COL5A1):c.2031G>A (p.Glu677=) rs61737719
NM_001278074.1(COL5A1):c.2058G>A (p.Pro686=) rs143443499
NM_001278074.1(COL5A1):c.2088C>T (p.Pro696=) rs146757272
NM_001278074.1(COL5A1):c.2096C>T (p.Thr699Met) rs142313124
NM_001278074.1(COL5A1):c.2182G>A (p.Ala728Thr) rs575535171
NM_001278074.1(COL5A1):c.2184C>A (p.Ala728=) rs150993138
NM_001278074.1(COL5A1):c.2238C>T (p.Pro746=) rs373617798
NM_001278074.1(COL5A1):c.2268C>T (p.Pro756=) rs367755808
NM_001278074.1(COL5A1):c.2310T>A (p.Pro770=) rs377123592
NM_001278074.1(COL5A1):c.240C>T (p.Asp80=) rs79724538
NM_001278074.1(COL5A1):c.2439C>T (p.Asp813=) rs148648778
NM_001278074.1(COL5A1):c.2493C>T (p.Ile831=) rs199630108
NM_001278074.1(COL5A1):c.2503G>A (p.Gly835Ser) rs927467876
NM_001278074.1(COL5A1):c.252C>T (p.Ser84=) rs151293601
NM_001278074.1(COL5A1):c.2542C>T (p.Arg848Cys) rs762336160
NM_001278074.1(COL5A1):c.2543G>A (p.Arg848His) rs767925708
NM_001278074.1(COL5A1):c.2544C>A (p.Arg848=) rs201556585
NM_001278074.1(COL5A1):c.2564C>G (p.Pro855Arg) rs150539264
NM_001278074.1(COL5A1):c.2588A>T (p.Glu863Val) rs139788610
NM_001278074.1(COL5A1):c.2676C>A (p.Gly892=) rs143161140
NM_001278074.1(COL5A1):c.2695G>A (p.Gly899Ser) rs149964491
NM_001278074.1(COL5A1):c.2724G>A (p.Pro908=) rs41310207
NM_001278074.1(COL5A1):c.2750C>T (p.Pro917Leu) rs375600865
NM_001278074.1(COL5A1):c.2751G>A (p.Pro917=) rs200319017
NM_001278074.1(COL5A1):c.278C>T (p.Ala93Val) rs41306397
NM_001278074.1(COL5A1):c.2799+4T>C rs75815945
NM_001278074.1(COL5A1):c.279G>A (p.Ala93=) rs145090868
NM_001278074.1(COL5A1):c.2842C>T (p.Arg948Trp) rs1030105888
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.295G>T (p.Asp99Tyr) rs774095835
NM_001278074.1(COL5A1):c.2983C>A (p.Pro995Thr) rs187022757
NM_001278074.1(COL5A1):c.2991C>T (p.Gly997=) rs766208976
NM_001278074.1(COL5A1):c.3014C>T (p.Thr1005Met) rs201220311
NM_001278074.1(COL5A1):c.301T>C (p.Ser101Pro) rs1554781476
NM_001278074.1(COL5A1):c.305T>C (p.Ile102Thr) rs1554781477
NM_001278074.1(COL5A1):c.3087G>A (p.Pro1029=) rs774035950
NM_001278074.1(COL5A1):c.3096T>A (p.Ala1032=) rs140590510
NM_001278074.1(COL5A1):c.3110C>T (p.Thr1037Met) rs150487609
NM_001278074.1(COL5A1):c.3204+3G>A rs202054108
NM_001278074.1(COL5A1):c.3225C>T (p.Gly1075=) rs1554803625
NM_001278074.1(COL5A1):c.3231A>G (p.Glu1077=) rs376248130
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.3418G>A (p.Val1140Met) rs149616140
NM_001278074.1(COL5A1):c.341C>A (p.Ala114Asp) rs147589613
NM_001278074.1(COL5A1):c.3428C>T (p.Pro1143Leu) rs540131206
NM_001278074.1(COL5A1):c.3465C>T (p.Asp1155=) rs145134399
NM_001278074.1(COL5A1):c.350T>G (p.Val117Gly) rs1554781492
NM_001278074.1(COL5A1):c.353C>G (p.Ser118Cys) rs1554781494
NM_001278074.1(COL5A1):c.354C>T (p.Ser118=) rs748711211
NM_001278074.1(COL5A1):c.3564C>A (p.Ile1188=) rs766961124
NM_001278074.1(COL5A1):c.3591C>T (p.Asp1197=) rs370349155
NM_001278074.1(COL5A1):c.3594C>T (p.Gly1198=) rs146176718
NM_001278074.1(COL5A1):c.3595G>C (p.Glu1199Gln) rs867211079
NM_001278074.1(COL5A1):c.3600G>A (p.Pro1200=) rs187345008
NM_001278074.1(COL5A1):c.363C>T (p.Asn121=) rs369180922
NM_001278074.1(COL5A1):c.3649C>T (p.Pro1217Ser) rs139116598
NM_001278074.1(COL5A1):c.367C>G (p.Gln123Glu) rs142114921
NM_001278074.1(COL5A1):c.3698C>T (p.Pro1233Leu) rs886039091
NM_001278074.1(COL5A1):c.3711C>T (p.Gly1237=) rs763583510
NM_001278074.1(COL5A1):c.3753G>A (p.Pro1251=) rs779638584
NM_001278074.1(COL5A1):c.3780C>T (p.Ser1260=) rs150591401
NM_001278074.1(COL5A1):c.378G>T (p.Gln126His) rs145178917
NM_001278074.1(COL5A1):c.37C>T (p.Leu13Phe) rs762625123
NM_001278074.1(COL5A1):c.3855C>T (p.Gly1285=) rs139544503
NM_001278074.1(COL5A1):c.3868G>A (p.Ala1290Thr) rs863223451
NM_001278074.1(COL5A1):c.3888G>A (p.Pro1296=) rs375631252
NM_001278074.1(COL5A1):c.3897C>T (p.Gly1299=) rs745918663
NM_001278074.1(COL5A1):c.3983C>G (p.Pro1328Arg) rs140797509
NM_001278074.1(COL5A1):c.3983del (p.Pro1328fs) rs1554805638
NM_001278074.1(COL5A1):c.3987C>T (p.Pro1329=) rs770802769
NM_001278074.1(COL5A1):c.4050C>T (p.Pro1350=) rs773853291
NM_001278074.1(COL5A1):c.4065C>T (p.Pro1355=) rs61737906
NM_001278074.1(COL5A1):c.4066G>A (p.Ala1356Thr) rs147868179
NM_001278074.1(COL5A1):c.4113C>T (p.Pro1371=) rs143794669
NM_001278074.1(COL5A1):c.4121C>T (p.Thr1374Met) rs151115748
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.4162C>T (p.Pro1388Ser) rs61737942
NM_001278074.1(COL5A1):c.4175G>A (p.Arg1392Lys) rs863223479
NM_001278074.1(COL5A1):c.4230+5C>T rs142248898
NM_001278074.1(COL5A1):c.4234G>A (p.Glu1412Lys) rs376893441
NM_001278074.1(COL5A1):c.4240G>A (p.Gly1414Ser) rs776709663
NM_001278074.1(COL5A1):c.4302C>T (p.Pro1434=) rs755495352
NM_001278074.1(COL5A1):c.4307C>T (p.Pro1436Leu) rs752334702
NM_001278074.1(COL5A1):c.4351C>G (p.Leu1451Val) rs369740453
NM_001278074.1(COL5A1):c.4383C>T (p.Pro1461=) rs368551709
NM_001278074.1(COL5A1):c.4410C>T (p.Pro1470=) rs41310953
NM_001278074.1(COL5A1):c.446C>T (p.Pro149Leu) rs369971694
NM_001278074.1(COL5A1):c.514G>A (p.Val172Ile) rs150147262
NM_001278074.1(COL5A1):c.514G>T (p.Val172Phe) rs150147262
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.597C>G (p.Ile199Met) rs147008954
NM_001278074.1(COL5A1):c.598G>A (p.Asp200Asn) rs142890619
NM_001278074.1(COL5A1):c.599A>C (p.Asp200Ala) rs1554781695
NM_001278074.1(COL5A1):c.615C>A (p.Ile205=) rs201286195
NM_001278074.1(COL5A1):c.61C>T (p.Pro21Ser) rs548525119
NM_001278074.1(COL5A1):c.628C>T (p.Arg210Trp) rs1490728700
NM_001278074.1(COL5A1):c.655-1G>C rs1554787526
NM_001278074.1(COL5A1):c.660C>G (p.Asp220Glu) rs570691491
NM_001278074.1(COL5A1):c.67_69CTG[3] (p.Leu26_Leu28del) rs773994971
NM_001278074.1(COL5A1):c.67_69CTG[7] (p.Leu28dup) rs773994971
NM_001278074.1(COL5A1):c.735C>T (p.Asp245=) rs746769184
NM_001278074.1(COL5A1):c.738C>T (p.Thr246=) rs3124299
NM_001278074.1(COL5A1):c.739G>A (p.Ala247Thr) rs769115550
NM_001278074.1(COL5A1):c.753C>A (p.Thr251=) rs374813957
NM_001278074.1(COL5A1):c.754C>T (p.Pro252Ser) rs369781295
NM_001278074.1(COL5A1):c.761C>T (p.Ser254Leu) rs144844792
NM_001278074.1(COL5A1):c.773A>G (p.Asn258Ser) rs1554787566
NM_001278074.1(COL5A1):c.791C>T (p.Thr264Met) rs148548209
NM_001278074.1(COL5A1):c.803G>T (p.Gly268Val) rs145552797
NM_001278074.1(COL5A1):c.804C>T (p.Gly268=) rs147729713
NM_001278074.1(COL5A1):c.805G>A (p.Glu269Lys) rs761079177
NM_001278074.1(COL5A1):c.825C>T (p.Tyr275=) rs771253587
NM_001278074.1(COL5A1):c.82C>A (p.Leu28Met) rs1312200383
NM_001278074.1(COL5A1):c.934C>G (p.Pro312Ala) rs140105243
NM_001278074.1(COL5A1):c.936G>A (p.Pro312=) rs150364815
NM_001278074.1(COL5A1):c.944C>T (p.Thr315Met) rs145093766
NM_001278074.1(COL5A1):c.996C>T (p.Asp332=) rs144763302

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