ClinVar Miner

List of variants in gene COL5A1 reported by PreventionGenetics,PreventionGenetics

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 103
Download table as spreadsheet
HGVS dbSNP
NM_000093.5(COL5A1):c.1390-18CT[3] rs863223441
NM_000093.5(COL5A1):c.1588G>A (p.Gly530Ser) rs61735045
NM_001278074.1(COL5A1):c.1053G>A (p.Pro351=) rs370018361
NM_001278074.1(COL5A1):c.1062C>T (p.Asp354=) rs61737708
NM_001278074.1(COL5A1):c.1092C>T (p.Pro364=) rs41306391
NM_001278074.1(COL5A1):c.110-19T>C rs148294644
NM_001278074.1(COL5A1):c.110-34C>T rs72772548
NM_001278074.1(COL5A1):c.1332+25C>T rs56385965
NM_001278074.1(COL5A1):c.1332+46T>C rs3109675
NM_001278074.1(COL5A1):c.1333-8A>G rs145620416
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.1476C>T (p.Val492=) rs141093527
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.1569+3G>A rs886038232
NM_001278074.1(COL5A1):c.1674G>A (p.Arg558=) rs746502968
NM_001278074.1(COL5A1):c.1720-34C>T rs73558067
NM_001278074.1(COL5A1):c.1720-47C>T rs79679217
NM_001278074.1(COL5A1):c.1720-48T>C rs10123014
NM_001278074.1(COL5A1):c.1827+45G>A rs11103502
NM_001278074.1(COL5A1):c.1935+8T>G rs79195626
NM_001278074.1(COL5A1):c.1936-21G>A rs77716946
NM_001278074.1(COL5A1):c.1936-35C>A rs10858278
NM_001278074.1(COL5A1):c.2034+24C>T rs41298367
NM_001278074.1(COL5A1):c.2058G>A (p.Pro686=) rs143443499
NM_001278074.1(COL5A1):c.2134-11G>C rs369317619
NM_001278074.1(COL5A1):c.2232+36C>T rs45622539
NM_001278074.1(COL5A1):c.2310T>A (p.Pro770=) rs377123592
NM_001278074.1(COL5A1):c.2386-6G>A rs373383768
NM_001278074.1(COL5A1):c.240C>T (p.Asp80=) rs79724538
NM_001278074.1(COL5A1):c.2430+20C>T rs3124932
NM_001278074.1(COL5A1):c.2431-25G>A rs41310213
NM_001278074.1(COL5A1):c.2493C>T (p.Ile831=) rs199630108
NM_001278074.1(COL5A1):c.2592+16C>G rs145429817
NM_001278074.1(COL5A1):c.2592+16C>T rs145429817
NM_001278074.1(COL5A1):c.2593-15T>C rs747677530
NM_001278074.1(COL5A1):c.2593-45G>A rs45497895
NM_001278074.1(COL5A1):c.2646+27C>T rs13301426
NM_001278074.1(COL5A1):c.2700+46C>T rs34636935
NM_001278074.1(COL5A1):c.2701-22C>T rs4072883
NM_001278074.1(COL5A1):c.2724G>A (p.Pro908=) rs41310207
NM_001278074.1(COL5A1):c.2745+15A>T rs79481146
NM_001278074.1(COL5A1):c.278C>T (p.Ala93Val) rs41306397
NM_001278074.1(COL5A1):c.2799+13C>A rs75668257
NM_001278074.1(COL5A1):c.2799+4T>C rs75815945
NM_001278074.1(COL5A1):c.2800-18C>A rs73664144
NM_001278074.1(COL5A1):c.2844+20G>A rs200916696
NM_001278074.1(COL5A1):c.2845-15T>C rs886038233
NM_001278074.1(COL5A1):c.2845-17C>A rs368737278
NM_001278074.1(COL5A1):c.2845-37A>G rs3811159
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.2952+11A>T rs4240707
NM_001278074.1(COL5A1):c.2997C>T (p.Val999=) rs201897490
NM_001278074.1(COL5A1):c.3006+17C>T rs140528268
NM_001278074.1(COL5A1):c.3007-19A>G rs370503113
NM_001278074.1(COL5A1):c.3114+12G>C rs528913410
NM_001278074.1(COL5A1):c.3203T>G (p.Val1068Gly) rs372109796
NM_001278074.1(COL5A1):c.3204+3G>A rs202054108
NM_001278074.1(COL5A1):c.3205-18C>G rs199557977
NM_001278074.1(COL5A1):c.3475-36A>C rs13297647
NM_001278074.1(COL5A1):c.3475-42G>C rs3811152
NM_001278074.1(COL5A1):c.3495G>A (p.Gly1165=) rs886038234
NM_001278074.1(COL5A1):c.3528+43G>A rs41306395
NM_001278074.1(COL5A1):c.3528+46G>C rs3827850
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.3745-37G>A rs45629034
NM_001278074.1(COL5A1):c.378G>T (p.Gln126His) rs145178917
NM_001278074.1(COL5A1):c.3852+47A>T rs111564392
NM_001278074.1(COL5A1):c.3855C>T (p.Gly1285=) rs139544503
NM_001278074.1(COL5A1):c.3906+19C>T rs571788196
NM_001278074.1(COL5A1):c.3906+20G>A rs148053413
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+19A>C rs746397034
NM_001278074.1(COL5A1):c.4176+35A>C rs10776910
NM_001278074.1(COL5A1):c.4176+48A>G rs10858283
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.4290C>T (p.Ala1430=) rs368011067
NM_001278074.1(COL5A1):c.4383C>T (p.Pro1461=) rs368551709
NM_001278074.1(COL5A1):c.4393-17C>T rs141152269
NM_001278074.1(COL5A1):c.4393-9C>T rs11792181
NM_001278074.1(COL5A1):c.4410C>T (p.Pro1470=) rs41310953
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.598G>A (p.Asp200Asn) rs142890619
NM_001278074.1(COL5A1):c.61C>T (p.Pro21Ser) rs548525119
NM_001278074.1(COL5A1):c.738C>T (p.Thr246=) rs3124299
NM_001278074.1(COL5A1):c.766G>A (p.Asp256Asn) rs886038237
NM_001278074.1(COL5A1):c.787-15G>A rs150200872
NM_001278074.1(COL5A1):c.787-42C>T rs3124302
NM_001278074.1(COL5A1):c.924+14G>A rs200595318
NM_001278074.1(COL5A1):c.925-43G>A rs3128598
NM_001278074.1(COL5A1):c.925-49A>G rs3124308

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.