List of variants in gene ACSM3, THUMPD1 studied for Neurodevelopmental disorder with speech delay and variable ocular anomalies

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: 8

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_017736.5(THUMPD1):c.706C>T (p.Gln236Ter)	rs778649204	0.00002
NM_017736.5(THUMPD1):c.290del (p.Ala97fs)	rs2549312956
NM_017736.5(THUMPD1):c.303_306del (p.Glu102fs)	rs2152419456
NM_017736.5(THUMPD1):c.491C>G (p.Pro164Arg)
NM_017736.5(THUMPD1):c.495dup (p.Ser166fs)	rs2152417882
NM_017736.5(THUMPD1):c.634dup (p.Glu212fs)	rs2152417708
NM_017736.5(THUMPD1):c.771GTT[1] (p.Leu258del)	rs772419789
NM_017736.5(THUMPD1):c.848A>T (p.Asn283Ile)	rs1206845592

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.