ClinVar Miner

List of variants studied for albinism by NIHR Bioresource Rare Diseases, University of Cambridge

Included ClinVar conditions (44):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 39
Download table as spreadsheet
HGVS dbSNP
NM_000195.5(HPS1):c.1096C>A (p.Pro366Thr)
NM_000195.5(HPS1):c.1189del (p.Gln397fs) rs281865084
NM_000195.5(HPS1):c.1632C>A (p.Phe544Leu)
NM_000195.5(HPS1):c.1744-2A>C rs281865088
NM_000195.5(HPS1):c.1857+2T>C
NM_000195.5(HPS1):c.1996G>T (p.Glu666Ter) rs121908385
NM_000195.5(HPS1):c.515A>G (p.Glu172Gly)
NM_000195.5(HPS1):c.972dup (p.Met325fs) rs281865082
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.1660T>C (p.Trp554Arg) rs1384042381
NM_000275.3(OCA2):c.2339G>A (p.Gly780Asp) rs141949212
NM_000275.3(OCA2):c.646+1825_807+679del
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.1103del (p.Lys368fs) rs387906560
NM_000550.3(TYRP1):c.1261+1G>A rs140365820
NM_007216.4(HPS5):c.1081del (p.Leu361fs) rs766602179
NM_007216.4(HPS5):c.201del (p.Gln67fs)
NM_007216.4(HPS5):c.2637_2640del (p.Cys879fs) rs886041723
NM_024747.5(HPS6):c.1498G>A (p.Gly500Arg)
NM_024747.5(HPS6):c.155del (p.Val52fs)
NM_024747.5(HPS6):c.1624del (p.Asp542fs)
NM_024747.5(HPS6):c.1649del (p.Gly550fs)
NM_024747.5(HPS6):c.238dup (p.Asp80fs) rs281865108
NM_024747.5(HPS6):c.283del (p.Val95fs) rs1564899012
NM_024747.5(HPS6):c.706_707delTC
NM_024747.5(HPS6):c.779G>A (p.Gly260Glu)
NM_024747.6(HPS6):c.1A>G (p.Met1Val)
NM_032122.4(DTNBP1):c.1015_1016AG[1] (p.Glu340fs) rs752074481
NM_032383.5(HPS3):c.124G>T (p.Glu42Ter)
NM_032383.5(HPS3):c.1509G>A (p.Met503Ile)
NM_032383.5(HPS3):c.15C>G (p.Tyr5Ter)
NM_032383.5(HPS3):c.1870G>T (p.Glu624Ter)
NM_032383.5(HPS3):c.2463dup (p.Arg822fs)
NM_032383.5(HPS3):c.2814dup (p.Leu939fs)
NM_181507.1(HPS5):c.2036C>G (p.Ser679Ter)
NM_181507.1(HPS5):c.2718-12A>G
NM_212550.4(BLOC1S3):c.433_456dup (p.Arg145_Ala152dup)

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.