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: 63
Download table as spreadsheet
HGVS dbSNP
NM_001278074.1(COL5A1):c.1077G>A (p.Glu359=) rs201166370
NM_001278074.1(COL5A1):c.1140C>T (p.Thr380=) rs749315207
NM_001278074.1(COL5A1):c.1143C>T (p.Ala381=) rs200245996
NM_001278074.1(COL5A1):c.1158C>T (p.Ser386=) rs61729497
NM_001278074.1(COL5A1):c.126C>T (p.Leu42=) rs149369116
NM_001278074.1(COL5A1):c.1281G>A (p.Pro427=) rs147292897
NM_001278074.1(COL5A1):c.1350C>T (p.Gly450=) rs576332528
NM_001278074.1(COL5A1):c.1383C>T (p.Ile461=) rs61736827
NM_001278074.1(COL5A1):c.1410G>C (p.Pro470=) rs148389741
NM_001278074.1(COL5A1):c.1539C>T (p.Pro513=) rs151173863
NM_001278074.1(COL5A1):c.1752G>A (p.Glu584=) rs376865199
NM_001278074.1(COL5A1):c.1809C>T (p.Ala603=) rs371345820
NM_001278074.1(COL5A1):c.193C>T (p.Arg65Trp) rs139468527
NM_001278074.1(COL5A1):c.1953C>T (p.Ser651=) rs78215347
NM_001278074.1(COL5A1):c.2022G>C (p.Leu674=) rs552160454
NM_001278074.1(COL5A1):c.2031G>A (p.Glu677=) rs61737719
NM_001278074.1(COL5A1):c.2096C>T (p.Thr699Met) rs142313124
NM_001278074.1(COL5A1):c.2184C>A (p.Ala728=) rs150993138
NM_001278074.1(COL5A1):c.2238C>T (p.Pro746=) rs373617798
NM_001278074.1(COL5A1):c.2268C>T (p.Pro756=) rs367755808
NM_001278074.1(COL5A1):c.2310T>A (p.Pro770=) rs377123592
NM_001278074.1(COL5A1):c.2493C>T (p.Ile831=) rs199630108
NM_001278074.1(COL5A1):c.252C>T (p.Ser84=) rs151293601
NM_001278074.1(COL5A1):c.2544C>A (p.Arg848=) rs201556585
NM_001278074.1(COL5A1):c.2676C>A (p.Gly892=) rs143161140
NM_001278074.1(COL5A1):c.2695G>A (p.Gly899Ser) rs149964491
NM_001278074.1(COL5A1):c.2751G>A (p.Pro917=) rs200319017
NM_001278074.1(COL5A1):c.278C>T (p.Ala93Val) rs41306397
NM_001278074.1(COL5A1):c.279G>A (p.Ala93=) rs145090868
NM_001278074.1(COL5A1):c.2991C>T (p.Gly997=) rs766208976
NM_001278074.1(COL5A1):c.3087G>A (p.Pro1029=) rs774035950
NM_001278074.1(COL5A1):c.3096T>A (p.Ala1032=) rs140590510
NM_001278074.1(COL5A1):c.3204+3G>A rs202054108
NM_001278074.1(COL5A1):c.3225C>T (p.Gly1075=) rs1554803625
NM_001278074.1(COL5A1):c.3231A>G (p.Glu1077=) rs376248130
NM_001278074.1(COL5A1):c.3291C>T (p.Ala1097=) rs371821655
NM_001278074.1(COL5A1):c.3303C>T (p.Ile1101=) rs760754491
NM_001278074.1(COL5A1):c.3465C>T (p.Asp1155=) rs145134399
NM_001278074.1(COL5A1):c.354C>T (p.Ser118=) rs748711211
NM_001278074.1(COL5A1):c.3564C>A (p.Ile1188=) rs766961124
NM_001278074.1(COL5A1):c.3591C>T (p.Asp1197=) rs370349155
NM_001278074.1(COL5A1):c.3600G>A (p.Pro1200=) rs187345008
NM_001278074.1(COL5A1):c.363C>T (p.Asn121=) rs369180922
NM_001278074.1(COL5A1):c.3753G>A (p.Pro1251=) rs779638584
NM_001278074.1(COL5A1):c.3780C>T (p.Ser1260=) rs150591401
NM_001278074.1(COL5A1):c.3855C>T (p.Gly1285=) rs139544503
NM_001278074.1(COL5A1):c.3888G>A (p.Pro1296=) rs375631252
NM_001278074.1(COL5A1):c.3897C>T (p.Gly1299=) rs745918663
NM_001278074.1(COL5A1):c.3987C>T (p.Pro1329=) rs770802769
NM_001278074.1(COL5A1):c.4050C>T (p.Pro1350=) rs773853291
NM_001278074.1(COL5A1):c.4113C>T (p.Pro1371=) rs143794669
NM_001278074.1(COL5A1):c.4230+5C>T rs142248898
NM_001278074.1(COL5A1):c.4302C>T (p.Pro1434=) rs755495352
NM_001278074.1(COL5A1):c.4383C>T (p.Pro1461=) rs368551709
NM_001278074.1(COL5A1):c.4410C>T (p.Pro1470=) rs41310953
NM_001278074.1(COL5A1):c.514G>A (p.Val172Ile) rs150147262
NM_001278074.1(COL5A1):c.573C>T (p.Leu191=) rs116715381
NM_001278074.1(COL5A1):c.615C>A (p.Ile205=) rs201286195
NM_001278074.1(COL5A1):c.735C>T (p.Asp245=) rs746769184
NM_001278074.1(COL5A1):c.753C>A (p.Thr251=) rs374813957
NM_001278074.1(COL5A1):c.825C>T (p.Tyr275=) rs771253587
NM_001278074.1(COL5A1):c.936G>A (p.Pro312=) rs150364815
NM_001278074.1(COL5A1):c.996C>T (p.Asp332=) rs144763302

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.