ClinVar Miner

List of variants in gene BLOC1S6 studied for albinism

Included ClinVar conditions (43):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 45
Download table as spreadsheet
HGVS dbSNP
NM_012388.3(BLOC1S6):c.*1124G>T rs111954968
NM_012388.3(BLOC1S6):c.*1139G>A rs886051208
NM_012388.3(BLOC1S6):c.*1446G>A rs552878862
NM_012388.3(BLOC1S6):c.*165T>C rs181609658
NM_012388.3(BLOC1S6):c.*1706G>A rs7181436
NM_012388.3(BLOC1S6):c.*171A>T rs60561729
NM_012388.3(BLOC1S6):c.*188T>C rs58509170
NM_012388.3(BLOC1S6):c.*2007A>T rs183928015
NM_012388.3(BLOC1S6):c.*2022G>C rs188876635
NM_012388.3(BLOC1S6):c.*2043G>A rs146657000
NM_012388.3(BLOC1S6):c.*2209T>C rs7183382
NM_012388.3(BLOC1S6):c.*2295C>T rs140243429
NM_012388.3(BLOC1S6):c.*2404C>T rs13376
NM_012388.3(BLOC1S6):c.*2509T>C rs564382292
NM_012388.3(BLOC1S6):c.*2586T>C rs886051209
NM_012388.3(BLOC1S6):c.*274_*275TG[1] rs766946085
NM_012388.3(BLOC1S6):c.*2815A>C rs188301800
NM_012388.3(BLOC1S6):c.*2818_*2821ACAA[4] rs376870196
NM_012388.3(BLOC1S6):c.*2818_*2821ACAA[6] rs376870196
NM_012388.3(BLOC1S6):c.*508G>C rs142031361
NM_012388.3(BLOC1S6):c.*589T>G rs753529567
NM_012388.3(BLOC1S6):c.*669C>T rs764795185
NM_012388.3(BLOC1S6):c.*797T>A rs11638237
NM_012388.3(BLOC1S6):c.*865G>A rs886051207
NM_012388.3(BLOC1S6):c.-118C>T rs536657988
NM_012388.3(BLOC1S6):c.-120C>T rs2304898
NM_012388.3(BLOC1S6):c.-134G>A rs141234222
NM_012388.3(BLOC1S6):c.-135C>T rs373895163
NM_012388.3(BLOC1S6):c.-153G>A rs115857479
NM_012388.3(BLOC1S6):c.-52C>T rs370519880
NM_012388.3(BLOC1S6):c.-78C>A rs758362537
NM_012388.3(BLOC1S6):c.131T>C (p.Ile44Thr)
NM_012388.3(BLOC1S6):c.182T>G (p.Leu61Trp)
NM_012388.3(BLOC1S6):c.196A>G (p.Arg66Gly)
NM_012388.3(BLOC1S6):c.205C>G (p.Gln69Glu)
NM_012388.3(BLOC1S6):c.232C>T (p.Gln78Ter) rs201348482
NM_012388.3(BLOC1S6):c.286C>T (p.His96Tyr)
NM_012388.3(BLOC1S6):c.294G>T (p.Met98Ile) rs574333116
NM_012388.3(BLOC1S6):c.34G>A (p.Ala12Thr) rs145762743
NM_012388.3(BLOC1S6):c.391A>G (p.Lys131Glu)
NM_012388.3(BLOC1S6):c.421C>T (p.Gln141Ter)
NM_012388.3(BLOC1S6):c.432A>G (p.Gln144=) rs886051205
NM_012388.3(BLOC1S6):c.501A>T (p.Arg167Ser)
NM_012388.3(BLOC1S6):c.79C>T (p.Pro27Ser)
NM_012388.3(BLOC1S6):c.82+10A>G rs370370639

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.