ClinVar Miner

List of variants in gene COL5A1 reported by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

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Gene type:
ClinVar version:
Total variants: 118
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HGVS dbSNP gnomAD frequency
NM_000093.5(COL5A1):c.1432-5T>C rs3128612 0.57159
NM_000093.5(COL5A1):c.2952+11A>T rs4240707 0.51337
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.2431-25G>A rs41310213 0.16712
NM_000093.5(COL5A1):c.4122G>A (p.Thr1374=) rs3827848 0.14130
NM_000093.5(COL5A1):c.3745-18G>A rs45556931 0.10766
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.1431G>A (p.Ala477=) rs61729545 0.06122
NM_000093.5(COL5A1):c.2745+15A>T rs79481146 0.04340
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.1935+8T>G rs79195626 0.02373
NM_000093.5(COL5A1):c.574G>A (p.Asp192Asn) rs138579182 0.02227
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.2439C>T (p.Asp813=) rs148648778 0.00340
NM_000093.5(COL5A1):c.278C>T (p.Ala93Val) rs41306397 0.00315
NM_000093.5(COL5A1):c.573C>T (p.Leu191=) rs116715381 0.00312
NM_000093.5(COL5A1):c.2058G>A (p.Pro686=) rs143443499 0.00283
NM_000093.5(COL5A1):c.4410C>T (p.Pro1470=) rs41310953 0.00253
NM_000093.5(COL5A1):c.110-19T>C rs148294644 0.00239
NM_000093.5(COL5A1):c.1158C>T (p.Ser386=) rs61729497 0.00194
NM_000093.5(COL5A1):c.378G>T (p.Gln126His) rs145178917 0.00192
NM_000093.5(COL5A1):c.4230+5C>T rs142248898 0.00182
NM_000093.5(COL5A1):c.2695G>A (p.Gly899Ser) rs149964491 0.00176
NM_000093.5(COL5A1):c.277+6T>G rs201910803 0.00174
NM_000093.5(COL5A1):c.4065C>T (p.Pro1355=) rs61737906 0.00164
NM_000093.5(COL5A1):c.3259-8C>T rs146461106 0.00159
NM_000093.5(COL5A1):c.1539C>T (p.Pro513=) rs151173863 0.00129
NM_000093.5(COL5A1):c.193C>T (p.Arg65Trp) rs139468527 0.00124
NM_000093.5(COL5A1):c.-15C>A rs587780907 0.00119
NM_000093.5(COL5A1):c.1383C>T (p.Ile461=) rs61736827 0.00106
NM_000093.5(COL5A1):c.924+13C>T rs199836060 0.00106
NM_000093.5(COL5A1):c.3855C>T (p.Gly1285=) rs139544503 0.00102
NM_000093.5(COL5A1):c.1953C>T (p.Ser651=) rs78215347 0.00101
NM_000093.5(COL5A1):c.2588A>T (p.Glu863Val) rs139788610 0.00087
NM_000093.5(COL5A1):c.3418G>A (p.Val1140Met) rs149616140 0.00087
NM_000093.5(COL5A1):c.252C>T (p.Ser84=) rs151293601 0.00066
NM_000093.5(COL5A1):c.3115-14G>A rs368945793 0.00065
NM_000093.5(COL5A1):c.341C>A (p.Ala114Asp) rs147589613 0.00058
NM_000093.5(COL5A1):c.996C>T (p.Asp332=) rs144763302 0.00058
NM_000093.5(COL5A1):c.2096C>T (p.Thr699Met) rs142313124 0.00057
NM_000093.5(COL5A1):c.2751G>A (p.Pro917=) rs200319017 0.00044
NM_000093.5(COL5A1):c.2089-9C>T rs181246690 0.00041
NM_000093.5(COL5A1):c.924+14G>A rs200595318 0.00041
NM_000093.5(COL5A1):c.126C>T (p.Leu42=) rs149369116 0.00040
NM_000093.5(COL5A1):c.3690+6T>A rs375998368 0.00038
NM_000093.5(COL5A1):c.598G>A (p.Asp200Asn) rs142890619 0.00034
NM_000093.5(COL5A1):c.3006+17C>T rs140528268 0.00031
NM_000093.5(COL5A1):c.3591C>T (p.Asp1197=) rs370349155 0.00031
NM_000093.5(COL5A1):c.2331+16G>A rs199654385 0.00028
NM_000093.5(COL5A1):c.1440C>T (p.Pro480=) rs150940930 0.00021
NM_000093.5(COL5A1):c.3888G>A (p.Pro1296=) rs375631252 0.00021
NM_000093.5(COL5A1):c.3983C>G (p.Pro1328Arg) rs140797509 0.00019
NM_000093.5(COL5A1):c.4383C>T (p.Pro1461=) rs368551709 0.00016
NM_000093.5(COL5A1):c.680T>C (p.Val227Ala) rs376144196 0.00015
NM_000093.5(COL5A1):c.3114+12G>C rs528913410 0.00014
NM_000093.5(COL5A1):c.3291C>T (p.Ala1097=) rs371821655 0.00014
NM_000093.5(COL5A1):c.3594C>T (p.Gly1198=) rs146176718 0.00011
NM_000093.5(COL5A1):c.4113C>T (p.Pro1371=) rs143794669 0.00011
NM_000093.5(COL5A1):c.1428C>T (p.Pro476=) rs745633063 0.00010
NM_000093.5(COL5A1):c.191C>T (p.Thr64Met) rs777376620 0.00009
NM_000093.5(COL5A1):c.2134-11G>C rs369317619 0.00009
NM_000093.5(COL5A1):c.684G>A (p.Ser228=) rs139705205 0.00008
NM_000093.5(COL5A1):c.1809C>T (p.Ala603=) rs371345820 0.00006
NM_000093.5(COL5A1):c.3231A>G (p.Glu1077=) rs376248130 0.00006
NM_000093.5(COL5A1):c.3780C>T (p.Ser1260=) rs150591401 0.00006
NM_000093.5(COL5A1):c.2097G>A (p.Thr699=) rs368590323 0.00005
NM_000093.5(COL5A1):c.1292G>A (p.Gly431Glu) rs370311038 0.00004
NM_000093.5(COL5A1):c.12T>C (p.His4=) rs368818087 0.00004
NM_000093.5(COL5A1):c.1595C>T (p.Ala532Val) rs369000939 0.00004
NM_000093.5(COL5A1):c.774T>C (p.Asn258=) rs199742873 0.00003
NM_000093.5(COL5A1):c.1818C>T (p.Pro606=) rs761257919 0.00002
NM_000093.5(COL5A1):c.2485-11C>T rs756350498 0.00001
NM_000093.5(COL5A1):c.2784G>A (p.Gly928=) rs774491536 0.00001
NM_000093.5(COL5A1):c.2845-8G>A rs775063630 0.00001
NM_000093.5(COL5A1):c.4392+16C>T rs763448522 0.00001
NM_000093.5(COL5A1):c.849C>T (p.Pro283=) rs761805821 0.00001
NM_000093.5(COL5A1):c.1191G>T (p.Ala397=) rs199755089
NM_000093.5(COL5A1):c.1318A>C (p.Thr440Pro)
NM_000093.5(COL5A1):c.1332+16C>T
NM_000093.5(COL5A1):c.1390-18CT[3] rs863223441
NM_000093.5(COL5A1):c.1402G>A (p.Glu468Lys) rs754948598
NM_000093.5(COL5A1):c.1719+14A>G
NM_000093.5(COL5A1):c.1977C>T (p.Asp659=) rs370766020
NM_000093.5(COL5A1):c.2187+19G>A
NM_000093.5(COL5A1):c.2433T>C (p.Gly811=) rs1554798918
NM_000093.5(COL5A1):c.2485-14T>C
NM_000093.5(COL5A1):c.2544C>T (p.Arg848=) rs201556585
NM_000093.5(COL5A1):c.2592+16C>G rs145429817
NM_000093.5(COL5A1):c.277+15C>A
NM_000093.5(COL5A1):c.2800-18C>A rs73664144
NM_000093.5(COL5A1):c.2800-18C>T rs73664144
NM_000093.5(COL5A1):c.2897del (p.Pro966fs) rs1179967153
NM_000093.5(COL5A1):c.2998G>A (p.Gly1000Ser) rs765082093
NM_000093.5(COL5A1):c.3397C>T (p.Arg1133Ter) rs886042045
NM_000093.5(COL5A1):c.3608G>A (p.Arg1203Gln) rs1838524385
NM_000093.5(COL5A1):c.401G>A (p.Arg134His) rs1442400098
NM_000093.5(COL5A1):c.4050dup (p.Gly1351fs) rs758337699
NM_000093.5(COL5A1):c.4392+18T>C
NM_000093.5(COL5A1):c.4393-4_4398del
NM_000093.5(COL5A1):c.514G>T (p.Val172Phe) rs150147262
NM_000093.5(COL5A1):c.539T>C (p.Ile180Thr)

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