ClinVar Miner

List of variants in gene COL5A1 reported as likely benign by Ambry Genetics

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 257
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
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.4410C>T (p.Pro1470=) rs41310953 0.00253
NM_000093.5(COL5A1):c.1158C>T (p.Ser386=) rs61729497 0.00194
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.1539C>T (p.Pro513=) rs151173863 0.00129
NM_000093.5(COL5A1):c.1077G>A (p.Glu359=) rs201166370 0.00124
NM_000093.5(COL5A1):c.193C>T (p.Arg65Trp) rs139468527 0.00124
NM_000093.5(COL5A1):c.3204+3G>A rs202054108 0.00112
NM_000093.5(COL5A1):c.1383C>T (p.Ile461=) rs61736827 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.1998C>T (p.Asp666=) rs143858735 0.00071
NM_000093.5(COL5A1):c.4066G>A (p.Ala1356Thr) rs147868179 0.00070
NM_000093.5(COL5A1):c.3292G>A (p.Ala1098Thr) rs772521985 0.00067
NM_000093.5(COL5A1):c.252C>T (p.Ser84=) rs151293601 0.00066
NM_000093.5(COL5A1):c.2031G>A (p.Glu677=) rs61737719 0.00062
NM_000093.5(COL5A1):c.2564C>G (p.Pro855Arg) rs150539264 0.00061
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.597C>G (p.Ile199Met) rs147008954 0.00054
NM_000093.5(COL5A1):c.2751G>A (p.Pro917=) rs200319017 0.00044
NM_000093.5(COL5A1):c.126C>T (p.Leu42=) rs149369116 0.00040
NM_000093.5(COL5A1):c.1281G>A (p.Pro427=) rs147292897 0.00038
NM_000093.5(COL5A1):c.3402C>T (p.Asp1134=) rs138251296 0.00037
NM_000093.5(COL5A1):c.598G>A (p.Asp200Asn) rs142890619 0.00034
NM_000093.5(COL5A1):c.3591C>T (p.Asp1197=) rs370349155 0.00031
NM_000093.5(COL5A1):c.367C>G (p.Gln123Glu) rs142114921 0.00031
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.999C>T (p.Val333=) rs138702819 0.00020
NM_000093.5(COL5A1):c.3983C>G (p.Pro1328Arg) rs140797509 0.00019
NM_000093.5(COL5A1):c.3185G>A (p.Arg1062Gln) rs771807198 0.00018
NM_000093.5(COL5A1):c.279G>A (p.Ala93=) rs145090868 0.00017
NM_000093.5(COL5A1):c.417C>T (p.Leu139=) rs138687282 0.00017
NM_000093.5(COL5A1):c.4383C>T (p.Pro1461=) rs368551709 0.00016
NM_000093.5(COL5A1):c.3291C>T (p.Ala1097=) rs371821655 0.00014
NM_000093.5(COL5A1):c.36G>C (p.Ala12=) rs1029930975 0.00014
NM_000093.5(COL5A1):c.4308G>A (p.Pro1436=) rs200073020 0.00014
NM_000093.5(COL5A1):c.1476C>T (p.Val492=) rs141093527 0.00013
NM_000093.5(COL5A1):c.1967C>T (p.Pro656Leu) rs748345448 0.00013
NM_000093.5(COL5A1):c.3576C>A (p.Gly1192=) rs141676973 0.00013
NM_000093.5(COL5A1):c.4290C>T (p.Ala1430=) rs368011067 0.00013
NM_000093.5(COL5A1):c.850G>A (p.Glu284Lys) rs75648697 0.00012
NM_000093.5(COL5A1):c.2493C>T (p.Ile831=) rs199630108 0.00011
NM_000093.5(COL5A1):c.3594C>T (p.Gly1198=) rs146176718 0.00011
NM_000093.5(COL5A1):c.3750C>G (p.Pro1250=) rs192806271 0.00011
NM_000093.5(COL5A1):c.4113C>T (p.Pro1371=) rs143794669 0.00011
NM_000093.5(COL5A1):c.1350C>T (p.Gly450=) rs576332528 0.00010
NM_000093.5(COL5A1):c.1889G>A (p.Arg630Gln) rs781667754 0.00010
NM_000093.5(COL5A1):c.2391C>T (p.Ala797=) rs142347159 0.00010
NM_000093.5(COL5A1):c.3345G>A (p.Pro1115=) rs764683617 0.00009
NM_000093.5(COL5A1):c.3870A>G (p.Ala1290=) rs541963919 0.00009
NM_000093.5(COL5A1):c.2088C>T (p.Pro696=) rs146757272 0.00008
NM_000093.5(COL5A1):c.4275C>T (p.Ile1425=) rs767372665 0.00008
NM_000093.5(COL5A1):c.684G>A (p.Ser228=) rs139705205 0.00008
NM_000093.5(COL5A1):c.-4C>G rs769694875 0.00007
NM_000093.5(COL5A1):c.3111G>A (p.Thr1037=) rs758336822 0.00007
NM_000093.5(COL5A1):c.4188C>T (p.Gly1396=) rs145363211 0.00007
NM_000093.5(COL5A1):c.1668A>G (p.Ala556=) rs750022273 0.00006
NM_000093.5(COL5A1):c.1809C>T (p.Ala603=) rs371345820 0.00006
NM_000093.5(COL5A1):c.2424C>T (p.Gly808=) rs139343205 0.00006
NM_000093.5(COL5A1):c.2655T>C (p.Ile885=) rs746323129 0.00006
NM_000093.5(COL5A1):c.3024G>A (p.Thr1008=) rs767002656 0.00006
NM_000093.5(COL5A1):c.3231A>G (p.Glu1077=) rs376248130 0.00006
NM_000093.5(COL5A1):c.3465C>T (p.Asp1155=) rs145134399 0.00006
NM_000093.5(COL5A1):c.3600G>A (p.Pro1200=) rs187345008 0.00006
NM_000093.5(COL5A1):c.3780C>T (p.Ser1260=) rs150591401 0.00006
NM_000093.5(COL5A1):c.408C>T (p.Pro136=) rs376435758 0.00006
NM_000093.5(COL5A1):c.447G>A (p.Pro149=) rs200290973 0.00006
NM_000093.5(COL5A1):c.753C>T (p.Thr251=) rs374813957 0.00006
NM_000093.5(COL5A1):c.805G>A (p.Glu269Lys) rs761079177 0.00006
NM_000093.5(COL5A1):c.936G>A (p.Pro312=) rs150364815 0.00006
NM_000093.5(COL5A1):c.1143C>T (p.Ala381=) rs200245996 0.00005
NM_000093.5(COL5A1):c.1896C>T (p.Phe632=) rs376478864 0.00005
NM_000093.5(COL5A1):c.2013C>T (p.Pro671=) rs372082908 0.00005
NM_000093.5(COL5A1):c.2310T>A (p.Pro770=) rs377123592 0.00005
NM_000093.5(COL5A1):c.2482C>T (p.Arg828Trp) rs185912761 0.00005
NM_000093.5(COL5A1):c.3087G>A (p.Pro1029=) rs774035950 0.00005
NM_000093.5(COL5A1):c.3369C>T (p.Gly1123=) rs546229885 0.00005
NM_000093.5(COL5A1):c.4239C>T (p.Ala1413=) rs537406193 0.00005
NM_000093.5(COL5A1):c.1527C>T (p.Ala509=) rs746510456 0.00004
NM_000093.5(COL5A1):c.1569C>T (p.Pro523=) rs138803413 0.00004
NM_000093.5(COL5A1):c.219C>T (p.Val73=) rs774691915 0.00004
NM_000093.5(COL5A1):c.2253C>T (p.Gly751=) rs772257562 0.00004
NM_000093.5(COL5A1):c.2268C>T (p.Pro756=) rs367755808 0.00004
NM_000093.5(COL5A1):c.3987C>T (p.Pro1329=) rs770802769 0.00004
NM_000093.5(COL5A1):c.4044C>T (p.Gly1348=) rs369945188 0.00004
NM_000093.5(COL5A1):c.4374C>T (p.Asp1458=) rs201335857 0.00004
NM_000093.5(COL5A1):c.945G>A (p.Thr315=) rs149123775 0.00004
NM_000093.5(COL5A1):c.1263C>T (p.Tyr421=) rs373846823 0.00003
NM_000093.5(COL5A1):c.192G>A (p.Thr64=) rs746717050 0.00003
NM_000093.5(COL5A1):c.2079C>T (p.Pro693=) rs186098435 0.00003
NM_000093.5(COL5A1):c.2706C>T (p.Thr902=) rs781027757 0.00003
NM_000093.5(COL5A1):c.2991C>T (p.Gly997=) rs766208976 0.00003
NM_000093.5(COL5A1):c.3303C>T (p.Ile1101=) rs760754491 0.00003
NM_000093.5(COL5A1):c.3564C>A (p.Ile1188=) rs766961124 0.00003
NM_000093.5(COL5A1):c.3786T>G (p.Ala1262=) rs1233949819 0.00003
NM_000093.5(COL5A1):c.3864C>T (p.Gly1288=) rs551695730 0.00003
NM_000093.5(COL5A1):c.3912C>T (p.Pro1304=) rs773909152 0.00003
NM_000093.5(COL5A1):c.4386C>T (p.Gly1462=) rs759256816 0.00003
NM_000093.5(COL5A1):c.603C>T (p.Ile201=) rs747624923 0.00003
NM_000093.5(COL5A1):c.615C>A (p.Ile205=) rs201286195 0.00003
NM_000093.5(COL5A1):c.735C>T (p.Asp245=) rs746769184 0.00003
NM_000093.5(COL5A1):c.774T>C (p.Asn258=) rs199742873 0.00003
NM_000093.5(COL5A1):c.1122C>T (p.Ala374=) rs758640551 0.00002
NM_000093.5(COL5A1):c.1284G>A (p.Ser428=) rs745575705 0.00002
NM_000093.5(COL5A1):c.1293G>T (p.Gly431=) rs373460629 0.00002
NM_000093.5(COL5A1):c.1734C>T (p.Ser578=) rs148094039 0.00002
NM_000093.5(COL5A1):c.1818C>T (p.Pro606=) rs761257919 0.00002
NM_000093.5(COL5A1):c.2508C>T (p.Pro836=) rs373285312 0.00002
NM_000093.5(COL5A1):c.2601C>T (p.Leu867=) rs767014646 0.00002
NM_000093.5(COL5A1):c.2694C>T (p.Gly898=) rs139394549 0.00002
NM_000093.5(COL5A1):c.2808C>T (p.Ser936=) rs142849628 0.00002
NM_000093.5(COL5A1):c.3732C>T (p.Asp1244=) rs377422775 0.00002
NM_000093.5(COL5A1):c.3753G>A (p.Pro1251=) rs779638584 0.00002
NM_000093.5(COL5A1):c.37C>T (p.Leu13Phe) rs762625123 0.00002
NM_000093.5(COL5A1):c.3897C>T (p.Gly1299=) rs745918663 0.00002
NM_000093.5(COL5A1):c.4131C>T (p.Pro1377=) rs145101509 0.00002
NM_000093.5(COL5A1):c.528T>C (p.Asn176=) rs769674770 0.00002
NM_000093.5(COL5A1):c.57G>A (p.Leu19=) rs761259908 0.00002
NM_000093.5(COL5A1):c.1053G>A (p.Pro351=) rs370018361 0.00001
NM_000093.5(COL5A1):c.1119G>A (p.Gly373=) rs1060504528 0.00001
NM_000093.5(COL5A1):c.1134C>T (p.Thr378=) rs373594322 0.00001
NM_000093.5(COL5A1):c.1140C>T (p.Thr380=) rs749315207 0.00001
NM_000093.5(COL5A1):c.1230G>A (p.Arg410=) rs1272170006 0.00001
NM_000093.5(COL5A1):c.1251C>T (p.Tyr417=) rs746576822 0.00001
NM_000093.5(COL5A1):c.1308G>A (p.Ala436=) rs200959477 0.00001
NM_000093.5(COL5A1):c.1401C>T (p.Ile467=) rs1452745305 0.00001
NM_000093.5(COL5A1):c.1638G>A (p.Ala546=) rs775508023 0.00001
NM_000093.5(COL5A1):c.1752G>A (p.Glu584=) rs376865199 0.00001
NM_000093.5(COL5A1):c.1755G>A (p.Pro585=) rs779658584 0.00001
NM_000093.5(COL5A1):c.1797G>A (p.Pro599=) rs201463583 0.00001
NM_000093.5(COL5A1):c.186C>T (p.Cys62=) rs778516121 0.00001
NM_000093.5(COL5A1):c.2019G>T (p.Gly673=) rs139822656 0.00001
NM_000093.5(COL5A1):c.2181C>T (p.Gly727=) rs201298716 0.00001
NM_000093.5(COL5A1):c.2238C>T (p.Pro746=) rs373617798 0.00001
NM_000093.5(COL5A1):c.2538G>A (p.Lys846=) rs751065864 0.00001
NM_000093.5(COL5A1):c.2649C>T (p.Gly883=) rs770622608 0.00001
NM_000093.5(COL5A1):c.2817C>T (p.Asp939=) rs750716466 0.00001
NM_000093.5(COL5A1):c.2847A>T (p.Gly949=) rs898479012 0.00001
NM_000093.5(COL5A1):c.2985C>T (p.Pro995=) rs768883188 0.00001
NM_000093.5(COL5A1):c.3096T>A (p.Ala1032=) rs140590510 0.00001
NM_000093.5(COL5A1):c.3099A>G (p.Gly1033=) rs1016663584 0.00001
NM_000093.5(COL5A1):c.3227A>G (p.Asn1076Ser) rs1838252619 0.00001
NM_000093.5(COL5A1):c.324C>T (p.Ala108=) rs765929345 0.00001
NM_000093.5(COL5A1):c.3294T>C (p.Ala1098=) rs949276689 0.00001
NM_000093.5(COL5A1):c.3299C>T (p.Pro1100Leu) rs564375308 0.00001
NM_000093.5(COL5A1):c.354C>T (p.Ser118=) rs748711211 0.00001
NM_000093.5(COL5A1):c.363C>T (p.Asn121=) rs369180922 0.00001
NM_000093.5(COL5A1):c.3771A>G (p.Arg1257=) rs1042269053 0.00001
NM_000093.5(COL5A1):c.4302C>T (p.Pro1434=) rs755495352 0.00001
NM_000093.5(COL5A1):c.4371G>A (p.Pro1457=) rs756096066 0.00001
NM_000093.5(COL5A1):c.474C>T (p.Ile158=) rs372769772 0.00001
NM_000093.5(COL5A1):c.609C>T (p.Gly203=) rs146054551 0.00001
NM_000093.5(COL5A1):c.762G>T (p.Ser254=) rs767928508 0.00001
NM_000093.5(COL5A1):c.825C>T (p.Tyr275=) rs771253587 0.00001
NM_000093.5(COL5A1):c.888C>T (p.Pro296=) rs747624704 0.00001
NM_000093.5(COL5A1):c.1014T>C (p.Tyr338=)
NM_000093.5(COL5A1):c.1017C>T (p.Asp339=)
NM_000093.5(COL5A1):c.105C>T (p.Arg35=)
NM_000093.5(COL5A1):c.1122C>G (p.Ala374=) rs758640551
NM_000093.5(COL5A1):c.1152C>T (p.Ser384=)
NM_000093.5(COL5A1):c.1191G>T (p.Ala397=) rs199755089
NM_000093.5(COL5A1):c.1206G>T (p.Gly402=)
NM_000093.5(COL5A1):c.1224G>A (p.Thr408=) rs139406076
NM_000093.5(COL5A1):c.1224G>C (p.Thr408=) rs139406076
NM_000093.5(COL5A1):c.1233C>T (p.Asn411=)
NM_000093.5(COL5A1):c.1290C>T (p.Ile430=) rs572136244
NM_000093.5(COL5A1):c.1296G>A (p.Pro432=)
NM_000093.5(COL5A1):c.1333-3dup rs773903401
NM_000093.5(COL5A1):c.1359C>G (p.Gly453=)
NM_000093.5(COL5A1):c.1377G>A (p.Ala459=) rs746091599
NM_000093.5(COL5A1):c.1410G>A (p.Pro470=) rs148389741
NM_000093.5(COL5A1):c.1410G>C (p.Pro470=) rs148389741
NM_000093.5(COL5A1):c.1428C>G (p.Pro476=) rs745633063
NM_000093.5(COL5A1):c.1464C>T (p.Pro488=) rs1835195730
NM_000093.5(COL5A1):c.150C>T (p.Asn50=)
NM_000093.5(COL5A1):c.1515C>G (p.Gly505=)
NM_000093.5(COL5A1):c.1590C>T (p.Gly530=) rs769010469
NM_000093.5(COL5A1):c.1626G>A (p.Gln542=)
NM_000093.5(COL5A1):c.1689G>A (p.Pro563=)
NM_000093.5(COL5A1):c.1788G>T (p.Val596=)
NM_000093.5(COL5A1):c.1920C>A (p.Gly640=) rs781663334
NM_000093.5(COL5A1):c.1970C>A (p.Pro657Gln)
NM_000093.5(COL5A1):c.1977C>A (p.Asp659Glu) rs370766020
NM_000093.5(COL5A1):c.1977C>T (p.Asp659=) rs370766020
NM_000093.5(COL5A1):c.2019G>C (p.Gly673=) rs139822656
NM_000093.5(COL5A1):c.2022G>C (p.Leu674=) rs552160454
NM_000093.5(COL5A1):c.2118G>T (p.Gly706=)
NM_000093.5(COL5A1):c.2148G>A (p.Glu716=) rs368917234
NM_000093.5(COL5A1):c.2151T>C (p.Pro717=)
NM_000093.5(COL5A1):c.216T>C (p.Asp72=)
NM_000093.5(COL5A1):c.2184C>A (p.Ala728=) rs150993138
NM_000093.5(COL5A1):c.2184C>T (p.Ala728=) rs150993138
NM_000093.5(COL5A1):c.2544C>A (p.Arg848=) rs201556585
NM_000093.5(COL5A1):c.2544C>T (p.Arg848=) rs201556585
NM_000093.5(COL5A1):c.2555A>G (p.Asn852Ser) rs148146480
NM_000093.5(COL5A1):c.2598A>T (p.Lys866Asn)
NM_000093.5(COL5A1):c.2676C>A (p.Gly892=) rs143161140
NM_000093.5(COL5A1):c.2676C>T (p.Gly892=) rs143161140
NM_000093.5(COL5A1):c.2688G>A (p.Glu896=)
NM_000093.5(COL5A1):c.270G>A (p.Leu90=)
NM_000093.5(COL5A1):c.273C>T (p.Tyr91=) rs1341789008
NM_000093.5(COL5A1):c.2766C>A (p.Gly922=)
NM_000093.5(COL5A1):c.279G>T (p.Ala93=)
NM_000093.5(COL5A1):c.2820C>T (p.Gly940=)
NM_000093.5(COL5A1):c.2982C>G (p.Gly994=)
NM_000093.5(COL5A1):c.2982C>T (p.Gly994=)
NM_000093.5(COL5A1):c.2988C>G (p.Pro996=)
NM_000093.5(COL5A1):c.2988C>T (p.Pro996=) rs374409202
NM_000093.5(COL5A1):c.3072T>C (p.Gly1024=)
NM_000093.5(COL5A1):c.309A>G (p.Leu103=)
NM_000093.5(COL5A1):c.309A>T (p.Leu103=)
NM_000093.5(COL5A1):c.30C>G (p.Arg10=)
NM_000093.5(COL5A1):c.3201A>G (p.Pro1067=) rs773094034
NM_000093.5(COL5A1):c.3225C>T (p.Gly1075=) rs1554803625
NM_000093.5(COL5A1):c.3357A>G (p.Lys1119=)
NM_000093.5(COL5A1):c.3408C>G (p.Leu1136=)
NM_000093.5(COL5A1):c.3429G>A (p.Pro1143=) rs750169623
NM_000093.5(COL5A1):c.346C>T (p.Leu116=)
NM_000093.5(COL5A1):c.3488A>C (p.Glu1163Ala)
NM_000093.5(COL5A1):c.34G>A (p.Ala12Thr) rs1160540030
NM_000093.5(COL5A1):c.3561C>T (p.Pro1187=)
NM_000093.5(COL5A1):c.3564C>T (p.Ile1188=) rs766961124
NM_000093.5(COL5A1):c.36G>A (p.Ala12=) rs1029930975
NM_000093.5(COL5A1):c.3711C>T (p.Gly1237=) rs763583510
NM_000093.5(COL5A1):c.3936C>A (p.Gly1312=) rs367804791
NM_000093.5(COL5A1):c.3999T>C (p.Gly1333=) rs1554805651
NM_000093.5(COL5A1):c.4020A>G (p.Pro1340=) rs776564144
NM_000093.5(COL5A1):c.4050C>T (p.Pro1350=) rs773853291
NM_000093.5(COL5A1):c.4128C>T (p.Ser1376=)
NM_000093.5(COL5A1):c.4158G>A (p.Ser1386=) rs1383677988
NM_000093.5(COL5A1):c.4200C>T (p.Pro1400=) rs752468183
NM_000093.5(COL5A1):c.4296G>A (p.Gly1432=)
NM_000093.5(COL5A1):c.4320A>G (p.Arg1440=)
NM_000093.5(COL5A1):c.432G>A (p.Thr144=) rs528963362
NM_000093.5(COL5A1):c.432G>T (p.Thr144=) rs528963362
NM_000093.5(COL5A1):c.514G>A (p.Val172Ile) rs150147262
NM_000093.5(COL5A1):c.514G>T (p.Val172Phe) rs150147262
NM_000093.5(COL5A1):c.585C>T (p.Asp195=)
NM_000093.5(COL5A1):c.597C>T (p.Ile199=) rs147008954
NM_000093.5(COL5A1):c.615C>T (p.Ile205=)
NM_000093.5(COL5A1):c.675C>G (p.Leu225=)
NM_000093.5(COL5A1):c.678T>C (p.Phe226=)
NM_000093.5(COL5A1):c.67CTG[8] (p.Leu27_Leu28dup) rs773994971
NM_000093.5(COL5A1):c.753C>A (p.Thr251=) rs374813957
NM_000093.5(COL5A1):c.76C>T (p.Leu26=)
NM_000093.5(COL5A1):c.792G>A (p.Thr264=) rs757360763
NM_000093.5(COL5A1):c.834C>T (p.Pro278=)
NM_000093.5(COL5A1):c.90G>T (p.Ala30=)
NM_000093.5(COL5A1):c.957C>T (p.Pro319=) rs2132639092
NM_000093.5(COL5A1):c.978G>A (p.Gly326=)

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.