ClinVar Miner

List of variants studied for albinism by Genome Diagnostics Laboratory,University Medical Center Utrecht

Included ClinVar conditions (43):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 11
Download table as spreadsheet
HGVS dbSNP
NM_000081.3(LYST):c.10800+4G>T rs41308172
NM_000081.3(LYST):c.10941-7C>A rs72761794
NM_000081.3(LYST):c.3507C>T (p.Leu1169=)
NM_000081.3(LYST):c.5518T>G (p.Ser1840Ala) rs115330112
NM_000081.3(LYST):c.7506A>G (p.Gln2502=) rs140434436
NM_000081.3(LYST):c.8980G>A (p.Glu2994Lys)
NM_001301365.1(LYST):c.11268-5del rs36014994
NM_001301365.1(LYST):c.2363+10dup
NM_012388.3(BLOC1S6):c.82+10A>G rs370370639
NM_022081.5(HPS4):c.710C>T (p.Ala237Val) rs77597168
NM_181507.1(HPS5):c.3045G>A (p.Met1015Ile) rs61755718

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.