ClinVar Miner

List of variants reported as pathogenic for Oculocutaneous albinism type 4

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 14
Download table as spreadsheet
HGVS dbSNP
NM_016180.3(SLC45A2):c.264delC rs775387808
NM_016180.5(SLC45A2):c.1074_1075AG[1] (p.Glu359fs) rs753485165
NM_016180.5(SLC45A2):c.1082T>C (p.Leu361Pro) rs121912619
NM_016180.5(SLC45A2):c.1121del (p.Leu374fs) rs730880271
NM_016180.5(SLC45A2):c.1273del (p.Leu425fs) rs759411189
NM_016180.5(SLC45A2):c.1368+1G>T rs1294369944
NM_016180.5(SLC45A2):c.1457C>T (p.Ala486Val) rs121912620
NM_016180.5(SLC45A2):c.163dup (p.Tyr55fs) rs1057518722
NM_016180.5(SLC45A2):c.210C>A (p.Tyr70Ter) rs562624441
NM_016180.5(SLC45A2):c.469G>A (p.Asp157Asn) rs121912621
NM_016180.5(SLC45A2):c.563-1G>A rs730880270
NM_016180.5(SLC45A2):c.606G>C (p.Trp202Cys) rs146802593
NM_016180.5(SLC45A2):c.656_658TCT[2] (p.Phe221del) rs387906318
NM_016180.5(SLC45A2):c.986del (p.Thr329fs) rs387906317

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.