ClinVar Miner

List of variants in gene COL5A1 reported as benign by PreventionGenetics, part of Exact Sciences

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 69
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HGVS dbSNP gnomAD frequency
NM_000093.5(COL5A1):c.2701-22C>T rs4072883 0.65253
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.2952+11A>T rs4240707 0.51337
NM_000093.5(COL5A1):c.2845-37A>G rs3811159 0.48658
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.1332+46T>C rs3109675 0.41683
NM_000093.5(COL5A1):c.787-42C>T rs3124302 0.39339
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.2430+20C>T rs3124932 0.36473
NM_000093.5(COL5A1):c.738C>T (p.Thr246=) rs3124299 0.34823
NM_000093.5(COL5A1):c.4176+9T>G rs10858282 0.31743
NM_000093.5(COL5A1):c.1569+16A>G rs12685946 0.29746
NM_000093.5(COL5A1):c.1720-48T>C rs10123014 0.27505
NM_000093.5(COL5A1):c.3475-42G>C rs3811152 0.22492
NM_000093.5(COL5A1):c.1720-34C>T rs73558067 0.20873
NM_000093.5(COL5A1):c.1332+25C>T rs56385965 0.19286
NM_000093.5(COL5A1):c.2431-25G>A rs41310213 0.16712
NM_000093.5(COL5A1):c.1720-47C>T rs79679217 0.15948
NM_000093.5(COL5A1):c.1827+45G>A rs11103502 0.15221
NM_000093.5(COL5A1):c.4122G>A (p.Thr1374=) rs3827848 0.14130
NM_000093.5(COL5A1):c.1936-35C>A rs10858278 0.13121
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.2593-45G>A rs45497895 0.08250
NM_000093.5(COL5A1):c.1092C>T (p.Pro364=) rs41306391 0.08110
NM_000093.5(COL5A1):c.1569+15C>T rs62574081 0.07860
NM_000093.5(COL5A1):c.2646+27C>T rs13301426 0.07414
NM_000093.5(COL5A1):c.110-34C>T rs72772548 0.07019
NM_000093.5(COL5A1):c.1431G>A (p.Ala477=) rs61729545 0.06122
NM_000093.5(COL5A1):c.2745+15A>T rs79481146 0.04340
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.2700+46C>T rs34636935 0.03889
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.4230+6G>A rs77176843 0.02700
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.574G>A (p.Asp192Asn) rs138579182 0.02227
NM_000093.5(COL5A1):c.2034+24C>T rs41298367 0.02041
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.1566G>A (p.Leu522=) rs61737941 0.00682
NM_000093.5(COL5A1):c.1062C>T (p.Asp354=) rs61737708 0.00634
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.4393-17C>T rs141152269 0.00515
NM_000093.5(COL5A1):c.2799+13C>A rs75668257 0.00443
NM_000093.5(COL5A1):c.1333-8A>G rs145620416 0.00360
NM_000093.5(COL5A1):c.573C>T (p.Leu191=) rs116715381 0.00312
NM_000093.5(COL5A1):c.240C>T (p.Asp80=) rs79724538 0.00288
NM_000093.5(COL5A1):c.2058G>A (p.Pro686=) rs143443499 0.00283
NM_000093.5(COL5A1):c.378G>T (p.Gln126His) rs145178917 0.00192
NM_000093.5(COL5A1):c.277+6T>G rs201910803 0.00174
NM_000093.5(COL5A1):c.194G>A (p.Arg65Gln) rs116003670 0.00162
NM_000093.5(COL5A1):c.3259-8C>T rs146461106 0.00159
NM_000093.5(COL5A1):c.3204+3G>A rs202054108 0.00112
NM_000093.5(COL5A1):c.2593-15T>C rs747677530 0.00005
NM_000093.5(COL5A1):c.3852+47A>T rs111564392 0.00001
NM_000093.5(COL5A1):c.1936-21G>A rs77716946
NM_000093.5(COL5A1):c.2592+16C>G rs145429817
NM_000093.5(COL5A1):c.2800-18C>A rs73664144
NM_000093.5(COL5A1):c.3528+46G>C rs3827850

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