List of variants in gene SPTB reported as uncertain significance for Elliptocytosis 3

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: 9

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_001355436.2(SPTB):c.5651C>T (p.Ala1884Val)	rs148337824	0.00150
NM_001355436.2(SPTB):c.5915G>A (p.Arg1972Gln)	rs140141633	0.00132
NM_001355436.2(SPTB):c.1606G>A (p.Asp536Asn)	rs145675502	0.00068
NM_001355436.2(SPTB):c.26A>C (p.Asn9Thr)	rs138437526	0.00034
NM_001355436.2(SPTB):c.871G>A (p.Gly291Ser)	rs143599352	0.00026
NM_001355436.2(SPTB):c.4105A>G (p.Lys1369Glu)	rs760803657	0.00011
NM_001355436.2(SPTB):c.6041T>G (p.Phe2014Cys)	rs2082214097
NM_001355436.2(SPTB):c.6181T>G (p.Trp2061Gly)	rs1690651311
NM_001355436.2(SPTB):c.6223G>C (p.Glu2075Gln)	rs2139479145

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.