List of variants in gene MYO5A reported as benign 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
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 10

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_001382347.1(MYO5A):c.1543-13T>C	rs1724623	0.92882
NM_001382347.1(MYO5A):c.1086A>C (p.Glu362Asp)	rs1724577	0.91068
NM_001382347.1(MYO5A):c.2012+27A>G	rs4774621	0.87830
NM_001382347.1(MYO5A):c.2526C>T (p.Ile842=)	rs2414145	0.87556
NM_001382347.1(MYO5A):c.3736C>T (p.Arg1246Cys)	rs1058219	0.14826
NM_001382347.1(MYO5A):c.613-26A>G	rs72623980	0.14538
NM_001382347.1(MYO5A):c.456-4A>G	rs61363656	0.04815
NM_001382347.1(MYO5A):c.5020C>A (p.Arg1674=)	rs2290333	0.00045
NM_001382347.1(MYO5A):c.1543-84del	rs71425744
NM_001382347.1(MYO5A):c.3858+12dup	rs11386962

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.