ClinVar Miner

List of variants in gene COL5A1 reported by PreventionGenetics

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Gene type:
ClinVar version:
Total variants: 103
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HGVS dbSNP
NM_000093.4(COL5A1):c.1053G>A (p.Pro351=) rs370018361
NM_000093.4(COL5A1):c.1062C>T (p.Asp354=) rs61737708
NM_000093.4(COL5A1):c.1092C>T (p.Pro364=) rs41306391
NM_000093.4(COL5A1):c.110-19T>C rs148294644
NM_000093.4(COL5A1):c.110-34C>T rs72772548
NM_000093.4(COL5A1):c.1332+25C>T rs56385965
NM_000093.4(COL5A1):c.1332+46T>C rs3109675
NM_000093.4(COL5A1):c.1333-8A>G rs145620416
NM_000093.4(COL5A1):c.1390-12_1390-11delCT rs863223441
NM_000093.4(COL5A1):c.1431G>A (p.Ala477=) rs61729545
NM_000093.4(COL5A1):c.1432-24C>T rs3109677
NM_000093.4(COL5A1):c.1432-5T>C rs3128612
NM_000093.4(COL5A1):c.1440C>T (p.Pro480=) rs150940930
NM_000093.4(COL5A1):c.1476C>T (p.Val492=) rs141093527
NM_000093.4(COL5A1):c.1566G>A (p.Leu522=) rs61737941
NM_000093.4(COL5A1):c.1569+15C>T rs62574081
NM_000093.4(COL5A1):c.1569+16A>G rs12685946
NM_000093.4(COL5A1):c.1569+3G>A rs886038232
NM_000093.4(COL5A1):c.1588G>A (p.Gly530Ser) rs61735045
NM_000093.4(COL5A1):c.1674G>A (p.Arg558=) rs746502968
NM_000093.4(COL5A1):c.1720-34C>T rs73558067
NM_000093.4(COL5A1):c.1720-47C>T rs79679217
NM_000093.4(COL5A1):c.1720-48T>C rs10123014
NM_000093.4(COL5A1):c.1827+45G>A rs11103502
NM_000093.4(COL5A1):c.1935+8T>G rs79195626
NM_000093.4(COL5A1):c.1936-21G>A rs77716946
NM_000093.4(COL5A1):c.1936-35C>A rs10858278
NM_000093.4(COL5A1):c.2034+24C>T rs41298367
NM_000093.4(COL5A1):c.2058G>A (p.Pro686=) rs143443499
NM_000093.4(COL5A1):c.2134-11G>C rs369317619
NM_000093.4(COL5A1):c.2232+36C>T rs45622539
NM_000093.4(COL5A1):c.2310T>A (p.Pro770=) rs377123592
NM_000093.4(COL5A1):c.2386-6G>A rs373383768
NM_000093.4(COL5A1):c.240C>T (p.Asp80=) rs79724538
NM_000093.4(COL5A1):c.2430+20C>T rs3124932
NM_000093.4(COL5A1):c.2431-25G>A rs41310213
NM_000093.4(COL5A1):c.2493C>T (p.Ile831=) rs199630108
NM_000093.4(COL5A1):c.2592+16C>G rs145429817
NM_000093.4(COL5A1):c.2592+16C>T rs145429817
NM_000093.4(COL5A1):c.2593-15T>C rs747677530
NM_000093.4(COL5A1):c.2593-45G>A rs45497895
NM_000093.4(COL5A1):c.2646+27C>T rs13301426
NM_000093.4(COL5A1):c.2700+46C>T rs34636935
NM_000093.4(COL5A1):c.2701-22C>T rs4072883
NM_000093.4(COL5A1):c.2724G>A (p.Pro908=) rs41310207
NM_000093.4(COL5A1):c.2745+15A>T rs79481146
NM_000093.4(COL5A1):c.278C>T (p.Ala93Val) rs41306397
NM_000093.4(COL5A1):c.2799+13C>A rs75668257
NM_000093.4(COL5A1):c.2799+4T>C rs75815945
NM_000093.4(COL5A1):c.2800-18C>A rs73664144
NM_000093.4(COL5A1):c.2844+20G>A rs200916696
NM_000093.4(COL5A1):c.2845-15T>C rs886038233
NM_000093.4(COL5A1):c.2845-17C>A rs368737278
NM_000093.4(COL5A1):c.2845-37A>G rs3811159
NM_000093.4(COL5A1):c.2852A>G (p.Asn951Ser) rs61736966
NM_000093.4(COL5A1):c.2892C>T (p.Gly964=) rs78511105
NM_000093.4(COL5A1):c.2952+11A>T rs4240707
NM_000093.4(COL5A1):c.2997C>T (p.Val999=) rs201897490
NM_000093.4(COL5A1):c.3006+17C>T rs140528268
NM_000093.4(COL5A1):c.3007-19A>G rs370503113
NM_000093.4(COL5A1):c.3114+12G>C rs528913410
NM_000093.4(COL5A1):c.3203T>G (p.Val1068Gly) rs372109796
NM_000093.4(COL5A1):c.3204+3G>A rs202054108
NM_000093.4(COL5A1):c.3205-18C>G rs199557977
NM_000093.4(COL5A1):c.3475-36A>C rs13297647
NM_000093.4(COL5A1):c.3475-42G>C rs3811152
NM_000093.4(COL5A1):c.3495G>A (p.Gly1165=) rs886038234
NM_000093.4(COL5A1):c.3528+43G>A rs41306395
NM_000093.4(COL5A1):c.3528+46G>C rs3827850
NM_000093.4(COL5A1):c.3591C>T (p.Asp1197=) rs370349155
NM_000093.4(COL5A1):c.3691-9T>C rs187584029
NM_000093.4(COL5A1):c.3745-18G>A rs45556931
NM_000093.4(COL5A1):c.3745-37G>A rs45629034
NM_000093.4(COL5A1):c.378G>T (p.Gln126His) rs145178917
NM_000093.4(COL5A1):c.3852+47A>T rs111564392
NM_000093.4(COL5A1):c.3855C>T (p.Gly1285=) rs139544503
NM_000093.4(COL5A1):c.3906+19C>T rs571788196
NM_000093.4(COL5A1):c.3906+20G>A rs148053413
NM_000093.4(COL5A1):c.4122G>A (p.Thr1374=) rs3827848
NM_000093.4(COL5A1):c.4135C>T (p.Pro1379Ser) rs61739195
NM_000093.4(COL5A1):c.4176+19A>C rs746397034
NM_000093.4(COL5A1):c.4176+35A>C rs10776910
NM_000093.4(COL5A1):c.4176+48A>G rs10858283
NM_000093.4(COL5A1):c.4176+9T>G rs10858282
NM_000093.4(COL5A1):c.4230+5C>T rs142248898
NM_000093.4(COL5A1):c.4230+6G>A rs77176843
NM_000093.4(COL5A1):c.4231-12G>A rs188473199
NM_000093.4(COL5A1):c.4290C>T (p.Ala1430=) rs368011067
NM_000093.4(COL5A1):c.4383C>T (p.Pro1461=) rs368551709
NM_000093.4(COL5A1):c.4393-17C>T rs141152269
NM_000093.4(COL5A1):c.4393-9C>T rs11792181
NM_000093.4(COL5A1):c.4410C>T (p.Pro1470=) rs41310953
NM_000093.4(COL5A1):c.573C>T (p.Leu191=) rs116715381
NM_000093.4(COL5A1):c.574G>A (p.Asp192Asn) rs138579182
NM_000093.4(COL5A1):c.598G>A (p.Asp200Asn) rs142890619
NM_000093.4(COL5A1):c.61C>T (p.Pro21Ser) rs548525119
NM_000093.4(COL5A1):c.738C>T (p.Thr246=) rs3124299
NM_000093.4(COL5A1):c.766G>A (p.Asp256Asn) rs886038237
NM_000093.4(COL5A1):c.787-15G>A rs150200872
NM_000093.4(COL5A1):c.787-42C>T rs3124302
NM_000093.4(COL5A1):c.924+14G>A rs200595318
NM_000093.4(COL5A1):c.925-43G>A rs3128598
NM_000093.4(COL5A1):c.925-49A>G rs3124308

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