ClinVar Miner

List of variants in gene RAB27A reported as uncertain significance for albinism

Included ClinVar conditions (43):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 41
Download table as spreadsheet
HGVS dbSNP
NM_183235.3(RAB27A):c.*1156T>G rs747438491
NM_183235.3(RAB27A):c.*1170T>G rs574506558
NM_183235.3(RAB27A):c.*121A>G rs886051316
NM_183235.3(RAB27A):c.*1296T>G rs560689599
NM_183235.3(RAB27A):c.*1473T>C rs568895039
NM_183235.3(RAB27A):c.*1485G>A rs886051308
NM_183235.3(RAB27A):c.*1612dup rs886051307
NM_183235.3(RAB27A):c.*162G>C rs886051315
NM_183235.3(RAB27A):c.*1672T>C rs886051306
NM_183235.3(RAB27A):c.*1678T>A rs540548388
NM_183235.3(RAB27A):c.*1863C>T rs566144766
NM_183235.3(RAB27A):c.*1878T>C rs552625680
NM_183235.3(RAB27A):c.*1915_*1920delinsTAAATAAAT rs886051305
NM_183235.3(RAB27A):c.*1922_*1923insTAA rs555244731
NM_183235.3(RAB27A):c.*2241_*2247del rs565165091
NM_183235.3(RAB27A):c.*2334C>A rs886051304
NM_183235.3(RAB27A):c.*388G>C rs886051314
NM_183235.3(RAB27A):c.*425G>A rs886051313
NM_183235.3(RAB27A):c.*561A>T rs886051312
NM_183235.3(RAB27A):c.*723C>T rs886051311
NM_183235.3(RAB27A):c.*730T>C rs886051310
NM_183235.3(RAB27A):c.*858G>A rs886051309
NM_183235.3(RAB27A):c.-142-46A>G rs8031271
NM_183235.3(RAB27A):c.-58A>G rs572723752
NM_183235.3(RAB27A):c.11G>T (p.Gly4Val)
NM_183235.3(RAB27A):c.167G>A (p.Ser56Asn) rs540520068
NM_183235.3(RAB27A):c.17A>G (p.Tyr6Cys) rs145253993
NM_183235.3(RAB27A):c.213G>T (p.Gln71His) rs776920896
NM_183235.3(RAB27A):c.275C>T (p.Ala92Val)
NM_183235.3(RAB27A):c.343+3_343+6del rs886051317
NM_183235.3(RAB27A):c.343+6del rs1277146219
NM_183235.3(RAB27A):c.365A>T (p.Tyr122Phe) rs1259290779
NM_183235.3(RAB27A):c.418C>G (p.Gln140Glu) rs150463407
NM_183235.3(RAB27A):c.518C>G (p.Ala173Gly)
NM_183235.3(RAB27A):c.526A>T (p.Met176Leu) rs757760608
NM_183235.3(RAB27A):c.543A>G (p.Ile181Met)
NM_183235.3(RAB27A):c.551G>A (p.Arg184Gln)
NM_183235.3(RAB27A):c.559C>T (p.Arg187Trp)
NM_183235.3(RAB27A):c.620C>T (p.Thr207Met)
NM_183235.3(RAB27A):c.621G>A (p.Thr207=)
NM_183235.3(RAB27A):c.94G>C (p.Gly32Arg)

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.