ClinVar Miner

List of variants in gene combination LURAP1L, TYRP1 reported as uncertain significance for albinism

Included ClinVar conditions (44):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 15
Download table as spreadsheet
NM_000550.3(TYRP1):c.*259T>C rs76349729
NM_000550.3(TYRP1):c.*319_*320dup rs886063414
NM_000550.3(TYRP1):c.*458A>G rs549032453
NM_000550.3(TYRP1):c.*509C>A rs74941076
NM_000550.3(TYRP1):c.*568T>C rs142323339
NM_000550.3(TYRP1):c.*573T>G rs886063415
NM_000550.3(TYRP1):c.*591G>T rs886063416
NM_000550.3(TYRP1):c.*59A>C rs140364108
NM_000550.3(TYRP1):c.*955dup rs763340664
NM_000550.3(TYRP1):c.1029C>T (p.Asp343=) rs145061390
NM_000550.3(TYRP1):c.1082-8G>A rs79992094
NM_000550.3(TYRP1):c.1082-9T>C rs144041081
NM_000550.3(TYRP1):c.1279T>C (p.Leu427=) rs148782717
NM_000550.3(TYRP1):c.1560A>G (p.Gln520=) rs773136421
NM_000550.3(TYRP1):c.917C>G (p.Thr306Ser) rs773285733

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.