ClinVar Miner

List of variants in gene COL5A1 reported as likely benign by Invitae

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 98
Download table as spreadsheet
HGVS dbSNP
NM_000093.4(COL5A1):c.1044G>T (p.Thr348=) rs1246095864
NM_000093.4(COL5A1):c.110-10G>A rs746555918
NM_000093.4(COL5A1):c.1119G>A (p.Gly373=) rs1060504528
NM_000093.4(COL5A1):c.1140C>T (p.Thr380=) rs749315207
NM_000093.4(COL5A1):c.1224G>A (p.Thr408=) rs139406076
NM_000093.4(COL5A1):c.1224G>C (p.Thr408=) rs139406076
NM_000093.4(COL5A1):c.1263C>T (p.Tyr421=) rs373846823
NM_000093.4(COL5A1):c.12T>C (p.His4=) rs368818087
NM_000093.4(COL5A1):c.1308G>A (p.Ala436=) rs200959477
NM_000093.4(COL5A1):c.1350C>T (p.Gly450=) rs576332528
NM_000093.4(COL5A1):c.1401C>T (p.Ile467=) rs1452745305
NM_000093.4(COL5A1):c.1431+10C>T rs1176378428
NM_000093.4(COL5A1):c.1440C>T (p.Pro480=) rs150940930
NM_000093.4(COL5A1):c.1638G>A (p.Ala546=) rs775508023
NM_000093.4(COL5A1):c.1668A>G (p.Ala556=) rs750022273
NM_000093.4(COL5A1):c.1701A>C (p.Thr567=) rs143647239
NM_000093.4(COL5A1):c.1719+8A>T rs747192480
NM_000093.4(COL5A1):c.1734C>T (p.Ser578=) rs148094039
NM_000093.4(COL5A1):c.1774-7C>A rs371941850
NM_000093.4(COL5A1):c.1797G>A (p.Pro599=) rs201463583
NM_000093.4(COL5A1):c.186C>T (p.Cys62=) rs778516121
NM_000093.4(COL5A1):c.1896C>T (p.Phe632=) rs376478864
NM_000093.4(COL5A1):c.1899C>T (p.Asp633=) rs757951119
NM_000093.4(COL5A1):c.1936-10C>T rs779506561
NM_000093.4(COL5A1):c.2049G>C (p.Leu683=) rs1060504529
NM_000093.4(COL5A1):c.2070A>G (p.Pro690=) rs1060504527
NM_000093.4(COL5A1):c.2089-8G>A rs368595229
NM_000093.4(COL5A1):c.2184C>A (p.Ala728=) rs150993138
NM_000093.4(COL5A1):c.2268C>T (p.Pro756=) rs367755808
NM_000093.4(COL5A1):c.2310T>A (p.Pro770=) rs377123592
NM_000093.4(COL5A1):c.2386-6G>A rs373383768
NM_000093.4(COL5A1):c.2431-7T>C rs1060504531
NM_000093.4(COL5A1):c.2451G>T (p.Gly817=) rs1554798928
NM_000093.4(COL5A1):c.2482C>T (p.Arg828Trp) rs185912761
NM_000093.4(COL5A1):c.2538G>A (p.Lys846=) rs751065864
NM_000093.4(COL5A1):c.2544C>A (p.Arg848=) rs201556585
NM_000093.4(COL5A1):c.2564C>G (p.Pro855Arg) rs150539264
NM_000093.4(COL5A1):c.2588A>T (p.Glu863Val) rs139788610
NM_000093.4(COL5A1):c.2647-9C>G rs757930358
NM_000093.4(COL5A1):c.2676C>A (p.Gly892=) rs143161140
NM_000093.4(COL5A1):c.2724G>C (p.Pro908=) rs41310207
NM_000093.4(COL5A1):c.2754G>A (p.Arg918=) rs776715400
NM_000093.4(COL5A1):c.279G>A (p.Ala93=) rs145090868
NM_000093.4(COL5A1):c.2997C>T (p.Val999=) rs201897490
NM_000093.4(COL5A1):c.3015G>T (p.Thr1005=) rs751265351
NM_000093.4(COL5A1):c.3087G>A (p.Pro1029=) rs774035950
NM_000093.4(COL5A1):c.3115-10C>T rs1018752469
NM_000093.4(COL5A1):c.315T>C (p.Thr105=) rs1232024630
NM_000093.4(COL5A1):c.3231A>G (p.Glu1077=) rs376248130
NM_000093.4(COL5A1):c.3291C>T (p.Ala1097=) rs371821655
NM_000093.4(COL5A1):c.3303C>T (p.Ile1101=) rs760754491
NM_000093.4(COL5A1):c.3312A>G (p.Pro1104=) rs1554803839
NM_000093.4(COL5A1):c.3418G>A (p.Val1140Met) rs149616140
NM_000093.4(COL5A1):c.3465C>T (p.Asp1155=) rs145134399
NM_000093.4(COL5A1):c.3510G>A (p.Lys1170=) rs543950268
NM_000093.4(COL5A1):c.3564C>A (p.Ile1188=) rs766961124
NM_000093.4(COL5A1):c.3591C>T (p.Asp1197=) rs370349155
NM_000093.4(COL5A1):c.3690+6T>A rs375998368
NM_000093.4(COL5A1):c.3691-9T>C rs187584029
NM_000093.4(COL5A1):c.36G>A (p.Ala12=) rs1029930975
NM_000093.4(COL5A1):c.3732C>T (p.Asp1244=) rs377422775
NM_000093.4(COL5A1):c.3852+10G>A rs749190469
NM_000093.4(COL5A1):c.3852+9C>T rs548696863
NM_000093.4(COL5A1):c.3906+10C>T rs183881247
NM_000093.4(COL5A1):c.3906+7G>A rs200333878
NM_000093.4(COL5A1):c.3921A>G (p.Glu1307=) rs1322220087
NM_000093.4(COL5A1):c.3960C>T (p.Ala1320=) rs1057524173
NM_000093.4(COL5A1):c.3987C>T (p.Pro1329=) rs770802769
NM_000093.4(COL5A1):c.3999T>C (p.Gly1333=) rs1554805651
NM_000093.4(COL5A1):c.4044C>T (p.Gly1348=) rs369945188
NM_000093.4(COL5A1):c.4050C>T (p.Pro1350=) rs773853291
NM_000093.4(COL5A1):c.4066G>A (p.Ala1356Thr) rs147868179
NM_000093.4(COL5A1):c.4158G>A (p.Ser1386=) rs1383677988
NM_000093.4(COL5A1):c.417C>T (p.Leu139=) rs138687282
NM_000093.4(COL5A1):c.4200C>T (p.Pro1400=) rs752468183
NM_000093.4(COL5A1):c.420C>T (p.Tyr140=) rs540553997
NM_000093.4(COL5A1):c.4326C>A (p.Ile1442=) rs942145911
NM_000093.4(COL5A1):c.491+9G>A rs752150900
NM_000093.4(COL5A1):c.528T>C (p.Asn176=) rs769674770
NM_000093.4(COL5A1):c.543C>T (p.Leu181=) rs368485498
NM_000093.4(COL5A1):c.597C>G (p.Ile199Met) rs147008954
NM_000093.4(COL5A1):c.603C>T (p.Ile201=) rs747624923
NM_000093.4(COL5A1):c.723C>T (p.Ser241=) rs1554787555
NM_000093.4(COL5A1):c.735C>T (p.Asp245=) rs746769184
NM_000093.4(COL5A1):c.753C>A (p.Thr251=) rs374813957
NM_000093.4(COL5A1):c.753C>T (p.Thr251=) rs374813957
NM_000093.4(COL5A1):c.792G>A (p.Thr264=) rs757360763
NM_000093.4(COL5A1):c.792G>T (p.Thr264=) rs757360763
NM_000093.4(COL5A1):c.921C>T (p.Pro307=) rs144335980
NM_000093.4(COL5A1):c.945G>A (p.Thr315=) rs149123775
NM_000093.4(COL5A1):c.999C>T (p.Val333=) rs138702819
NM_001278074.1(COL5A1):c.1476C>T (p.Val492=) rs141093527
NM_001278074.1(COL5A1):c.278C>T (p.Ala93Val) rs41306397
NM_001278074.1(COL5A1):c.3402C>T (p.Asp1134=) rs138251296
NM_001278074.1(COL5A1):c.341C>A (p.Ala114Asp) rs147589613
NM_001278074.1(COL5A1):c.3983C>G (p.Pro1328Arg) rs140797509
NM_001278074.1(COL5A1):c.61C>T (p.Pro21Ser) rs548525119
NM_001278074.1(COL5A1):c.850G>A (p.Glu284Lys) rs75648697

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.