ClinVar Miner

List of variants reported as uncertain significance for Ehlers-Danlos syndrome, vascular type by Illumina Laboratory Services, Illumina

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 46
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000090.4(COL3A1):c.*467T>A rs886055341 0.00036
NM_000090.4(COL3A1):c.*406A>G rs770571552 0.00012
NM_000090.4(COL3A1):c.-101G>A rs41265577 0.00009
NM_000090.4(COL3A1):c.*72A>G rs928894236 0.00007
NM_000090.4(COL3A1):c.3576C>T (p.Ala1192=) rs574331101 0.00003
NM_000090.4(COL3A1):c.3809C>G (p.Pro1270Arg) rs778419091 0.00003
NM_000090.4(COL3A1):c.*89G>A rs886055335 0.00002
NM_000090.4(COL3A1):c.4020C>T (p.Tyr1340=) rs766750333 0.00002
NM_000090.4(COL3A1):c.*643G>A rs1688748242 0.00001
NM_000090.4(COL3A1):c.*740A>T rs1005052846 0.00001
NM_000090.4(COL3A1):c.*818T>C rs886055344 0.00001
NM_000090.4(COL3A1):c.183C>T (p.Leu61=) rs753474870 0.00001
NM_000090.4(COL3A1):c.2461C>A (p.Pro821Thr) rs1296092212 0.00001
NM_000090.4(COL3A1):c.267A>G (p.Pro89=) rs998965783 0.00001
NM_000090.4(COL3A1):c.284C>T (p.Pro95Leu) rs780260944 0.00001
NM_000090.4(COL3A1):c.3298C>T (p.Arg1100Cys) rs755321924 0.00001
NM_000090.4(COL3A1):c.*113C>T rs886055336
NM_000090.4(COL3A1):c.*317C>A rs886055337
NM_000090.4(COL3A1):c.*325C>A rs886055338
NM_000090.4(COL3A1):c.*370A>G rs886055339
NM_000090.4(COL3A1):c.*371G>T rs886055340
NM_000090.4(COL3A1):c.*413T>A rs1027214857
NM_000090.4(COL3A1):c.*508T>C rs1688745206
NM_000090.4(COL3A1):c.*600G>T rs1688747004
NM_000090.4(COL3A1):c.*625C>T rs886055342
NM_000090.4(COL3A1):c.*692G>A rs886055343
NM_000090.4(COL3A1):c.*906C>G rs1306575962
NM_000090.4(COL3A1):c.*947C>T rs886055345
NM_000090.4(COL3A1):c.1334C>T (p.Pro445Leu) rs1243746897
NM_000090.4(COL3A1):c.1348-4del rs758567906
NM_000090.4(COL3A1):c.1348-4dup rs758567906
NM_000090.4(COL3A1):c.1662+14T>A rs910613076
NM_000090.4(COL3A1):c.2065G>T (p.Ala689Ser) rs886055331
NM_000090.4(COL3A1):c.2364A>G (p.Pro788=) rs886055332
NM_000090.4(COL3A1):c.2490G>A (p.Pro830=) rs777361888
NM_000090.4(COL3A1):c.2714C>T (p.Pro905Leu) rs886055333
NM_000090.4(COL3A1):c.2749C>T (p.Pro917Ser) rs991559993
NM_000090.4(COL3A1):c.282+13A>T rs754113375
NM_000090.4(COL3A1):c.3102T>G (p.Arg1034=) rs1399453028
NM_000090.4(COL3A1):c.3165C>T (p.Val1055=) rs1576471851
NM_000090.4(COL3A1):c.3202-5C>T rs1417576506
NM_000090.4(COL3A1):c.3525+3A>C rs1553509674
NM_000090.4(COL3A1):c.3998A>G (p.Asp1333Gly) rs376651720
NM_000090.4(COL3A1):c.4142A>G (p.Gln1381Arg) rs886055334
NM_000090.4(COL3A1):c.529-5T>G rs886055329
NM_000090.4(COL3A1):c.583-7T>C rs886055330

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.