ClinVar Miner

List of variants in gene COL3A1 reported by Illumina Clinical Services Laboratory,Illumina

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 80
Download table as spreadsheet
HGVS dbSNP
NM_000090.3(COL3A1):c.*113C>T rs886055336
NM_000090.3(COL3A1):c.*317C>A rs886055337
NM_000090.3(COL3A1):c.*325C>A rs886055338
NM_000090.3(COL3A1):c.*34T>G rs191843385
NM_000090.3(COL3A1):c.*354C>T rs41265555
NM_000090.3(COL3A1):c.*370A>G rs886055339
NM_000090.3(COL3A1):c.*371G>T rs886055340
NM_000090.3(COL3A1):c.*406A>G rs770571552
NM_000090.3(COL3A1):c.*43A>G rs8224
NM_000090.3(COL3A1):c.*467T>A rs886055341
NM_000090.3(COL3A1):c.*592T>A rs115345151
NM_000090.3(COL3A1):c.*622T>C rs572369155
NM_000090.3(COL3A1):c.*625C>T rs886055342
NM_000090.3(COL3A1):c.*674G>A rs190903102
NM_000090.3(COL3A1):c.*692G>A rs886055343
NM_000090.3(COL3A1):c.*799_*800del rs13306265
NM_000090.3(COL3A1):c.*818T>C rs886055344
NM_000090.3(COL3A1):c.*88C>T rs11162
NM_000090.3(COL3A1):c.*89G>A rs886055335
NM_000090.3(COL3A1):c.*923A>T rs146222772
NM_000090.3(COL3A1):c.*947C>T rs886055345
NM_000090.3(COL3A1):c.-101G>A rs41265577
NM_000090.3(COL3A1):c.-80G>A rs41265575
NM_000090.3(COL3A1):c.1051-13G>A rs371934572
NM_000090.3(COL3A1):c.119C>T (p.Ala40Val) rs201380807
NM_000090.3(COL3A1):c.1257C>T (p.Ala419=) rs41272837
NM_000090.3(COL3A1):c.1293+15T>A rs2271679
NM_000090.3(COL3A1):c.1348-4del rs758567906
NM_000090.3(COL3A1):c.1348-4dup rs758567906
NM_000090.3(COL3A1):c.1509+5A>G rs572863064
NM_000090.3(COL3A1):c.1509+7A>C rs201740954
NM_000090.3(COL3A1):c.1697C>T (p.Pro566Leu) rs150543864
NM_000090.3(COL3A1):c.1762-11T>G rs761637298
NM_000090.3(COL3A1):c.1770T>C (p.Pro590=) rs80302667
NM_000090.3(COL3A1):c.1804C>A (p.Pro602Thr) rs35795890
NM_000090.3(COL3A1):c.1816-14G>C rs7579815
NM_000090.3(COL3A1):c.1851G>A (p.Gln617=) rs7579903
NM_000090.3(COL3A1):c.1856C>T (p.Pro619Leu) rs373838193
NM_000090.3(COL3A1):c.1927T>C (p.Leu643=) rs41263757
NM_000090.3(COL3A1):c.1977+9C>T rs184223621
NM_000090.3(COL3A1):c.1978-11C>T rs13306272
NM_000090.3(COL3A1):c.2002C>A (p.Pro668Thr) rs1801183
NM_000090.3(COL3A1):c.2035G>A (p.Ala679Thr) rs41263773
NM_000090.3(COL3A1):c.2065G>T (p.Ala689Ser) rs886055331
NM_000090.3(COL3A1):c.2092G>A (p.Ala698Thr) rs1800255
NM_000090.3(COL3A1):c.217G>C (p.Asp73His) rs200246388
NM_000090.3(COL3A1):c.2244T>C (p.Gly748=) rs1801184
NM_000090.3(COL3A1):c.2364A>G (p.Pro788=) rs886055332
NM_000090.3(COL3A1):c.2493T>C (p.Gly831=) rs551541918
NM_000090.3(COL3A1):c.2712C>T (p.Pro904=) rs375673185
NM_000090.3(COL3A1):c.2714C>T (p.Pro905Leu) rs886055333
NM_000090.3(COL3A1):c.2723C>T (p.Ala908Val) rs144036995
NM_000090.3(COL3A1):c.2805T>C (p.Pro935=) rs111567071
NM_000090.3(COL3A1):c.284C>T (p.Pro95Leu) rs780260944
NM_000090.3(COL3A1):c.2958C>T (p.Asn986=) rs41264441
NM_000090.3(COL3A1):c.3061C>A (p.Leu1021Ile) rs139619440
NM_000090.3(COL3A1):c.3202-14del rs767971610
NM_000090.3(COL3A1):c.333+15T>C rs764678861
NM_000090.3(COL3A1):c.3390C>T (p.Ile1130=) rs148918486
NM_000090.3(COL3A1):c.3576C>T (p.Ala1192=) rs574331101
NM_000090.3(COL3A1):c.3613A>G (p.Ile1205Val) rs2271683
NM_000090.3(COL3A1):c.3642C>A (p.Gly1214=) rs184402915
NM_000090.3(COL3A1):c.3694G>A (p.Asp1232Asn) rs147663769
NM_000090.3(COL3A1):c.3775G>A (p.Ala1259Thr) rs776478974
NM_000090.3(COL3A1):c.3777T>C (p.Ala1259=) rs34781844
NM_000090.3(COL3A1):c.3938A>G (p.Lys1313Arg) rs111840783
NM_000090.3(COL3A1):c.3966G>A (p.Glu1322=) rs560861999
NM_000090.3(COL3A1):c.3998A>G (p.Asp1333Gly) rs376651720
NM_000090.3(COL3A1):c.4020C>T (p.Tyr1340=) rs766750333
NM_000090.3(COL3A1):c.4021G>A (p.Gly1341Ser) rs140646380
NM_000090.3(COL3A1):c.4142A>G (p.Gln1381Arg) rs886055334
NM_000090.3(COL3A1):c.432C>T (p.Cys144=) rs539430522
NM_000090.3(COL3A1):c.505C>T (p.Leu169Phe) rs111391222
NM_000090.3(COL3A1):c.515A>C (p.Tyr172Ser) rs771654029
NM_000090.3(COL3A1):c.529-5T>G rs886055329
NM_000090.3(COL3A1):c.583-7T>C rs886055330
NM_000090.3(COL3A1):c.583-8C>T rs10166835
NM_000090.3(COL3A1):c.80-13A>C rs566189676
NM_000090.3(COL3A1):c.812G>A (p.Arg271Gln) rs112185887
NM_000090.3(COL3A1):c.898-5T>C rs535434618

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.