ClinVar Miner

List of variants reported as likely benign for intellectual disability-hypotonia-spasticity-sleep disorder syndrome

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 9
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_020987.5(ANK3):c.13106G>A (p.Arg4369Gln) rs141939315 0.00503
NM_020987.5(ANK3):c.3984G>A (p.Leu1328=) rs149052618 0.00393
NM_020987.5(ANK3):c.4403G>A (p.Arg1468His) rs74777754 0.00024
NM_020987.5(ANK3):c.6916A>G (p.Lys2306Glu) rs144270555 0.00022
NM_020987.5(ANK3):c.1750C>A (p.Leu584Met) rs367916566 0.00010
NM_020987.5(ANK3):c.6695G>A (p.Arg2232Gln) rs770107349 0.00003
NM_001372044.2(SHANK3):c.2129G>A (p.Gly710Glu)
NM_020987.5(ANK3):c.1690-15_1690-14dup rs34796699
NM_020987.5(ANK3):c.8773T>G (p.Ser2925Ala)

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.