List of variants studied for spinal muscular atrophy by Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
		ClinVar version:

Total variants: 5

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_207346.3(TSEN54):c.919G>T (p.Ala307Ser)	rs113994152	0.00092
NM_016042.4(EXOSC3):c.395A>C (p.Asp132Ala)	rs141138948	0.00048
NM_025265.4(TSEN2):c.1048C>T (p.Arg350Ter)	rs201467485	0.00004
NM_001376.5(DYNC1H1):c.2327C>T (p.Pro776Leu)	rs1057518083
NM_001376.5(DYNC1H1):c.9547dup (p.Tyr3183fs)	rs2152590132

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.