List of variants reported as not provided for spinal muscular atrophy by GeneReviews

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 14

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_017411.4(SMN2):c.859G>C (p.Gly287Arg)	rs121909192	0.00208
NM_016042.4(EXOSC3):c.238G>T (p.Val80Phe)	rs374550999	0.00093
NM_207346.3(TSEN54):c.919G>T (p.Ala307Ser)	rs113994152	0.00092
NM_177924.5(ASAH1):c.125C>T (p.Thr42Met)	rs145873635	0.00004
NM_001122955.4(BSCL2):c.455A>G (p.Asn152Ser)	rs137852972	0.00002
NM_016042.4(EXOSC3):c.92G>C (p.Gly31Ala)	rs387907196	0.00002
NM_001122955.4(BSCL2):c.461C>T (p.Ser154Leu)	rs137852973	0.00001
NM_025265.4(TSEN2):c.926A>G (p.Tyr309Cys)	rs113994149	0.00001
NM_001077446.4(TSEN34):c.172C>T (p.Arg58Trp)	rs113994150
NM_001122955.4(BSCL2):c.461C>G (p.Ser154Trp)	rs137852973
NM_001122955.4(BSCL2):c.479G>A (p.Arg160His)
NM_003334.4(UBA1):c.1617G>T (p.Met539Ile)	rs80356545
NM_003334.4(UBA1):c.1639A>G (p.Ser547Gly)	rs80356546
NM_003334.4(UBA1):c.1731C>T (p.Asn577=)	rs80356547

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.