List of variants in gene RAB27A studied for Griscelli syndrome

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 8

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_183235.2(RAB27A):c.*2554C>T	rs28564077	0.27672
NM_183235.3(RAB27A):c.149del (p.Arg50fs)	rs770601673	0.00001
NM_183235.3(RAB27A):c.*1612dup	rs886051307
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.*425G>A	rs886051313
NM_183235.3(RAB27A):c.343+3_343+6del	rs886051317

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.