List of variants in gene MITF studied for Waardenburg 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: 10

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_001354604.2(MITF):c.*2160del	rs565618309	0.00016
NM_001354604.2(MITF):c.*2159dup	rs550555819
NM_001354604.2(MITF):c.413_416del	rs886058810
NM_001354604.2(MITF):c.*415AAGA[2]	rs886058811
NM_001354604.2(MITF):c.574_576dup	rs59665466
NM_001354604.2(MITF):c.575_576dup	rs59665466
NM_001354604.2(MITF):c.*576dup	rs59665466
NM_001354604.2(MITF):c.1180-2A>G	rs1064797294
NM_001354604.2(MITF):c.794A>G (p.Tyr265Cys)	rs1057518765
NM_001354604.2(MITF):c.964AGA[2] (p.Arg324del)	rs1553704814

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.