ClinVar Miner

List of variants reported as likely pathogenic for Albinism

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 12
Download table as spreadsheet
NM_000273.3(GPR143):c.779A>G (p.Asn260Ser) rs62635042
NM_000273.3(GPR143):c.874T>G (p.Trp292Gly) rs62635045
NM_000275.3(OCA2):c.1025A>G (p.Tyr342Cys) rs142931246
NM_000275.3(OCA2):c.1660T>C (p.Trp554Arg) rs1384042381
NM_000275.3(OCA2):c.2339G>A (p.Gly780Asp) rs141949212
NM_000372.5(TYR):c.1264C>T (p.Arg422Trp) rs749979474
NM_000372.5(TYR):c.242C>T (p.Pro81Leu) rs28940876
NM_000550.3(TYRP1):c.1261+1G>A rs140365820
NM_001922.5(DCT):c.118T>A (p.Cys40Ser) rs370729240
NM_001922.5(DCT):c.1307_1320del (p.Phe435_Phe436insTer)
NM_001922.5(DCT):c.183C>G (p.Cys61Trp)

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.