ClinVar Miner

List of variants reported as benign for Tay-Sachs disease AB variant by Illumina Clinical Services Laboratory,Illumina

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 19
Download table as spreadsheet
NM_000405.4(GM2A):c.-102A>G rs2277028
NM_000405.5(GM2A):c.*1239dup rs397883774
NM_000405.5(GM2A):c.*1274dup rs397716595
NM_000405.5(GM2A):c.*1445G>A rs153450
NM_000405.5(GM2A):c.*144T>C rs9324686
NM_000405.5(GM2A):c.*1866C>T rs3806953
NM_000405.5(GM2A):c.*1994A>G rs12516391
NM_000405.5(GM2A):c.*2141C>T rs153449
NM_000405.5(GM2A):c.*227A>G rs989
NM_000405.5(GM2A):c.*2717_*2720del rs35384604
NM_000405.5(GM2A):c.*2849G>A rs10076053
NM_000405.5(GM2A):c.*28C>T rs9324685
NM_000405.5(GM2A):c.*376del rs397712620
NM_000405.5(GM2A):c.*723dup rs35982513
NM_000405.5(GM2A):c.*938G>A rs1130163
NM_000405.5(GM2A):c.*944T>C rs149174
NM_000405.5(GM2A):c.175A>G (p.Ile59Val) rs153477
NM_000405.5(GM2A):c.205A>G (p.Met69Val) rs153478
NM_000405.5(GM2A):c.582A>G (p.Ter194=) rs1048723

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.