ClinVar Miner

List of variants studied for albinism by Centre for Mendelian Genomics,University Medical Centre Ljubljana

Included ClinVar conditions (43):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 12
Download table as spreadsheet
HGVS dbSNP
NM_000273.2(GPR143):c.12_36delGCGCCTAGGGACCTTCTGCTGCCCC (p.Leu6Glyfs) rs1057518787
NM_000275.2(OCA2):c.1025A>G (p.Tyr342Cys) rs142931246
NM_000372.4(TYR):c.1037-7T>A rs61754381
NM_000372.4(TYR):c.1205G>A (p.Arg402Gln) rs1126809
NM_000372.4(TYR):c.1352A>G (p.Tyr451Cys) rs376823382
NM_000372.4(TYR):c.1A>G (p.Met1Val) rs28940881
NM_000372.4(TYR):c.265T>C (p.Cys89Arg) rs28940877
NM_000372.4(TYR):c.325G>A (p.Gly109Arg) rs61753253
NM_000372.4(TYR):c.74dupT (p.Ser26Leufs) rs1057518763
NM_000550.2(TYRP1):c.1133A>G (p.Asn378Ser) rs771055145
NM_000550.2(TYRP1):c.670C>T (p.His224Tyr) rs1057518841
NM_006177.4(NRL):c.448_466dup (p.Glu156Alafs) rs1555339028

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.