ClinVar Miner

List of variants reported as uncertain significance for Combined deficiency of sialidase AND beta galactosidase by Illumina Laboratory Services, Illumina

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 30
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000308.3(CTSA):c.-292T>C rs554749359 0.00158
NM_000308.4(CTSA):c.*266T>A rs536094482 0.00030
NM_000308.4(CTSA):c.1342G>A (p.Ala448Thr) rs144407534 0.00029
NM_000308.4(CTSA):c.1059G>A (p.Pro353=) rs74694805 0.00019
NM_000308.3(CTSA):c.-52G>A rs373024722 0.00016
NM_000308.4(CTSA):c.*50C>T rs370691011 0.00016
NM_000308.4(CTSA):c.*320G>A rs568876316 0.00011
NM_000308.4(CTSA):c.1031C>T (p.Pro344Leu) rs368108194 0.00008
NM_000308.4(CTSA):c.1124G>A (p.Arg375Gln) rs370763298 0.00007
NM_000308.3(CTSA):c.-271G>A rs566739434 0.00006
NM_000308.4(CTSA):c.769G>A (p.Val257Met) rs745752655 0.00006
NM_000308.4(CTSA):c.1164+7G>A rs775198775 0.00004
NM_000308.4(CTSA):c.448G>A (p.Ala150Thr) rs779275701 0.00004
NM_000308.4(CTSA):c.980T>C (p.Met327Thr) rs140321228 0.00004
NM_000308.4(CTSA):c.692+13G>A rs371053390 0.00003
NM_000308.4(CTSA):c.319G>A (p.Gly107Ser) rs886056713 0.00002
NM_000308.4(CTSA):c.693-3C>T rs773034222 0.00002
NM_000308.4(CTSA):c.793C>T (p.Arg265Cys) rs763381306 0.00002
NM_000308.3(CTSA):c.-234C>G rs558829056 0.00001
NM_000308.3(CTSA):c.-237delT rs886056711 0.00001
NM_000308.4(CTSA):c.-42C>T rs765245462 0.00001
NM_000308.4(CTSA):c.1366G>A (p.Gly456Ser) rs200051553 0.00001
NM_000308.4(CTSA):c.699G>A (p.Trp233Ter) rs766114836 0.00001
NM_000308.4(CTSA):c.839C>T (p.Pro280Leu) rs778824488 0.00001
NM_000308.3(CTSA):c.-238delC rs554760054
NM_000308.4(CTSA):c.195-7dup rs780400265
NM_000308.4(CTSA):c.358-5T>G rs375266196
NM_000308.4(CTSA):c.54G>C (p.Leu18=) rs181943893
NM_000308.4(CTSA):c.574A>C (p.Met192Leu) rs1987042851
NM_000308.4(CTSA):c.768C>A (p.Cys256Ter) rs767712946

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.