List of variants reported as benign for Progressive myoclonic epilepsy type 3 by Illumina Laboratory Services, Illumina

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 19

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_153033.5(KCTD7):c.*944C>G	rs9791712	0.67438
NM_153033.5(KCTD7):c.*2656A>G	rs1860469	0.67430
NM_153033.5(KCTD7):c.*979C>A	rs9791713	0.67429
NM_153033.5(KCTD7):c.*3033T>C	rs1860468	0.51466
NM_153033.5(KCTD7):c.-44C>T	rs35526611	0.50683
NM_153033.5(KCTD7):c.*3752C>G	rs73133851	0.10747
NM_153033.5(KCTD7):c.*2805C>T	rs1267818	0.10216
NM_153033.5(KCTD7):c.267G>A (p.Thr89=)	rs3764904	0.08655
NM_153033.5(KCTD7):c.*2080A>G	rs73702140	0.04065
NM_153033.5(KCTD7):c.*1727G>C	rs17229513	0.03687
NM_153033.5(KCTD7):c.*708C>T	rs79736939	0.02438
NM_153033.5(KCTD7):c.*880T>C	rs117143942	0.01621
NM_153033.4(KCTD7):c.*3961C>T	rs144713969	0.01481
NM_153033.5(KCTD7):c.654C>T (p.Asp218=)	rs117194263	0.01460
NM_153033.5(KCTD7):c.*9G>T	rs116630203	0.00745
NM_153033.5(KCTD7):c.*216A>G	rs77341088	0.00543
NM_153033.5(KCTD7):c.*1926G>A	rs117267079	0.00086
NM_153033.5(KCTD7):c.*690G>C	rs4718382
NM_153033.5(KCTD7):c.-116C>T	rs551906037

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.