ClinVar Miner

List of variants reported as uncertain significance for Ehlers-Danlos syndrome, type 4 by Illumina Clinical Services Laboratory,Illumina

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 31
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.*370A>G rs886055339
NM_000090.3(COL3A1):c.*371G>T rs886055340
NM_000090.3(COL3A1):c.*406A>G rs770571552
NM_000090.3(COL3A1):c.*467T>A rs886055341
NM_000090.3(COL3A1):c.*625C>T rs886055342
NM_000090.3(COL3A1):c.*692G>A rs886055343
NM_000090.3(COL3A1):c.*818T>C rs886055344
NM_000090.3(COL3A1):c.*89G>A rs886055335
NM_000090.3(COL3A1):c.*947C>T rs886055345
NM_000090.3(COL3A1):c.-101G>A rs41265577
NM_000090.3(COL3A1):c.1348-4del rs758567906
NM_000090.3(COL3A1):c.1348-4dup rs758567906
NM_000090.3(COL3A1):c.1762-11T>G rs761637298
NM_000090.3(COL3A1):c.1856C>T (p.Pro619Leu) rs373838193
NM_000090.3(COL3A1):c.2065G>T (p.Ala689Ser) rs886055331
NM_000090.3(COL3A1):c.2364A>G (p.Pro788=) rs886055332
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.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.3998A>G (p.Asp1333Gly) rs376651720
NM_000090.3(COL3A1):c.4020C>T (p.Tyr1340=) rs766750333
NM_000090.3(COL3A1):c.4142A>G (p.Gln1381Arg) rs886055334
NM_000090.3(COL3A1):c.529-5T>G rs886055329
NM_000090.3(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.