List of variants in gene SMO reported by ITMI

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 15

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_005631.5(SMO):c.808G>A (p.Val270Ile)	rs111694017	0.00740
NM_005631.5(SMO):c.1939C>T (p.Pro647Ser)	rs34545616	0.00579
NM_005631.5(SMO):c.2060C>T (p.Pro687Leu)	rs55722779	0.00222
NM_005631.5(SMO):c.2093C>G (p.Pro698Arg)	rs116640950	0.00168
NM_005631.5(SMO):c.503G>A (p.Arg168His)	rs61746143	0.00158
NM_005631.5(SMO):c.2177G>A (p.Arg726Gln)	rs142495470	0.00078
NM_005631.5(SMO):c.1921C>G (p.Pro641Ala)	rs146200641	0.00041
NM_005631.5(SMO):c.517C>T (p.Arg173Cys)	rs143083812	0.00041
NM_005631.5(SMO):c.518G>A (p.Arg173His)	rs147491841	0.00041
NM_005631.5(SMO):c.672G>T (p.Glu224Asp)	rs148484943	0.00041
NM_005631.5(SMO):c.2314C>T (p.Arg772Cys)	rs140172891	0.00022
NM_005631.5(SMO):c.2057C>T (p.Ala686Val)	rs587778688	0.00015
NM_005631.5(SMO):c.1417G>A (p.Asp473Asn)	rs17710891	0.00001
NM_005631.5(SMO):c.2227C>A (p.Pro743Thr)	rs112783338
NM_005631.5(SMO):c.2344G>A (p.Asp782Asn)	rs587778689

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.