ClinVar Miner

List of variants reported as likely benign for Paroxysmal nonkinesigenic dyskinesia 1

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 9
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_015488.4(PNKD):c.-105A>T rs183319984 0.00706
NM_015488.5(PNKD):c.236+1180G>A rs148049021 0.00196
NC_000002.12:g.218346802C>T rs142330726 0.00092
NM_015488.5(PNKD):c.24G>A (p.Thr8=) rs371342116 0.00031
NM_015488.5(PNKD):c.959G>A (p.Arg320Gln) rs200815994 0.00012
NM_015488.5(PNKD):c.785G>A (p.Arg262Gln) rs759669801 0.00006
NM_015488.5(PNKD):c.*311G>T rs535683095 0.00002
NM_015488.5(PNKD):c.1140_1145del (p.Met381_His382del) rs576363906
NM_015488.5(PNKD):c.781+12C>G rs370963150

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.