List of variants in gene SPTAN1 reported as benign by Athena Diagnostics Inc

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: 15

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_001130438.3(SPTAN1):c.3486C>T (p.Leu1162=)	rs2227864	0.74835
NM_001130438.3(SPTAN1):c.5406C>T (p.Thr1802=)	rs2227862	0.72171
NM_001130438.3(SPTAN1):c.5437C>A (p.Arg1813=)	rs3750333	0.01558
NM_001130438.3(SPTAN1):c.6660C>T (p.Asn2220=)	rs112955915	0.00645
NM_001130438.3(SPTAN1):c.3720-5T>G	rs200543425	0.00180
NM_001130438.3(SPTAN1):c.3051G>A (p.Pro1017=)	rs140279996	0.00175
NM_001130438.3(SPTAN1):c.5460G>A (p.Ala1820=)	rs140191388	0.00161
NM_001130438.3(SPTAN1):c.6111C>T (p.Gly2037=)	rs139799727	0.00154
NM_001130438.3(SPTAN1):c.5775C>T (p.Thr1925=)	rs140353002	0.00130
NM_001130438.3(SPTAN1):c.1737C>T (p.Phe579=)	rs143941068	0.00113
NM_001130438.3(SPTAN1):c.1511C>T (p.Ala504Val)	rs148727077	0.00097
NM_001130438.3(SPTAN1):c.3912C>T (p.Pro1304=)	rs143844598	0.00046
NM_001130438.3(SPTAN1):c.6159C>T (p.His2053=)	rs150902677	0.00046
NM_001130438.3(SPTAN1):c.4595+4G>T	rs185925523	0.00026
NM_001130438.3(SPTAN1):c.6498C>A (p.Arg2166=)	rs72758823

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.