List of variants in gene SPTAN1 reported as pathogenic by GeneDx

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_001130438.3(SPTAN1):c.133C>T (p.Arg45Ter)	rs1484319243
NM_001130438.3(SPTAN1):c.4828C>T (p.Arg1610Trp)	rs1131691643
NM_001130438.3(SPTAN1):c.55C>T (p.Arg19Trp)	rs748232676
NM_001130438.3(SPTAN1):c.6241AAG[2] (p.Lys2083del)	rs1858669268
NM_001130438.3(SPTAN1):c.6605_6607del (p.Gln2202del)	rs398122865
NM_001130438.3(SPTAN1):c.6616GAG[1] (p.Glu2207del)	rs587784438
NM_001130438.3(SPTAN1):c.6899ACCAGCTGG[1] (p.2300DQL[1])	rs587784440
NM_001130438.3(SPTAN1):c.6899ACCAGCTGG[3] (p.2300DQL[3])	rs587784440
NM_001130438.3(SPTAN1):c.6917GCATGC[3] (p.Arg2308_Met2309dup)	rs796053335

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.