ClinVar Miner

List of variants reported as likely benign for Progressive myoclonic epilepsy by Illumina Laboratory Services, Illumina

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 20
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_004287.5(GOSR2):c.*2292C>T rs79673308 0.10999
NM_004287.5(GOSR2):c.*1067G>A rs11874 0.08663
NM_004287.5(GOSR2):c.*1062A>T rs16941324 0.03601
NM_004287.5(GOSR2):c.*1655A>G rs116123534 0.03006
NM_004287.5(GOSR2):c.*2342A>G rs61745471 0.01873
NM_198859.4(PRICKLE2):c.-252G>C rs142388795 0.01230
NM_004287.5(GOSR2):c.*2293G>A rs77706742 0.01200
NM_198859.4(PRICKLE2):c.*3489G>A rs143062140 0.00811
NM_198859.4(PRICKLE2):c.*3852C>A rs153731 0.00717
NM_198859.4(PRICKLE2):c.1527G>A (p.Glu509=) rs144455095 0.00228
NM_198859.4(PRICKLE2):c.*4057G>A rs140931283 0.00204
NM_198859.4(PRICKLE2):c.444C>T (p.Arg148=) rs146538069 0.00190
NM_198859.4(PRICKLE2):c.788-6T>C rs180903875 0.00143
NM_198859.4(PRICKLE2):c.*133G>A rs370569305 0.00021
NM_198859.4(PRICKLE2):c.*4354C>G rs186186236 0.00017
NM_198859.4(PRICKLE2):c.*2633G>A rs140420417 0.00003
NM_198859.4(PRICKLE2):c.*2269T>C rs550841859 0.00002
NM_198859.4(PRICKLE2):c.*3178G>C rs528929996 0.00002
NM_004287.5(GOSR2):c.*288_*296dup rs376212419
NM_004287.5(GOSR2):c.7C>A (p.Pro3Thr) rs12944167

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.