ClinVar Miner

List of variants studied for Oculocutaneous albinism type 3; MELANESIAN BLOND HAIR by Fulgent Genetics, Fulgent Genetics

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 23
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000550.3(TYRP1):c.1557T>G (p.Tyr519Ter) rs41302073 0.01144
NM_000550.3(TYRP1):c.1411C>T (p.Arg471Trp) rs138272660 0.00036
NM_000550.3(TYRP1):c.208G>A (p.Ala70Thr) rs61752864 0.00027
NM_000550.3(TYRP1):c.1261+1G>A rs140365820 0.00021
NM_000550.3(TYRP1):c.497C>G (p.Ser166Ter) rs104894130 0.00021
NM_000550.3(TYRP1):c.1120C>T (p.Arg374Ter) rs121912778 0.00006
NM_000550.3(TYRP1):c.415G>A (p.Glu139Lys) rs201789348 0.00006
NM_000550.3(TYRP1):c.520G>T (p.Gly174Cys) rs78071458 0.00006
NM_000550.3(TYRP1):c.1067G>A (p.Arg356Gln) rs281865424 0.00004
NM_000550.3(TYRP1):c.351G>A (p.Trp117Ter) rs780433845 0.00004
NM_000550.3(TYRP1):c.-70C>T rs766836831 0.00003
NM_000550.3(TYRP1):c.1082G>C (p.Gly361Ala) rs372225049 0.00001
NM_000550.3(TYRP1):c.1057_1060del (p.Asn353fs) rs387906562
NM_000550.3(TYRP1):c.1082-1G>C
NM_000550.3(TYRP1):c.1103del (p.Lys368fs) rs387906560
NM_000550.3(TYRP1):c.1167del (p.Gln390fs)
NM_000550.3(TYRP1):c.1372_1375dup (p.Asn459fs)
NM_000550.3(TYRP1):c.1377_1380dup (p.Gly461fs)
NM_000550.3(TYRP1):c.1415_1418dup (p.Phe473fs)
NM_000550.3(TYRP1):c.176C>G (p.Ser59Ter)
NM_000550.3(TYRP1):c.570G>A (p.Trp190Ter)
NM_000550.3(TYRP1):c.782_793del (p.Cys261_Asp264del)
NM_000550.3(TYRP1):c.88T>C (p.Cys30Arg)

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.