ClinVar Miner

List of variants reported as pathogenic for adolescent-onset epilepsy syndrome by Fulgent Genetics, Fulgent Genetics

Included ClinVar conditions (69):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 10
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000100.4(CSTB):c.67-1G>C rs147484110 0.00027
NM_004287.5(GOSR2):c.430G>T (p.Gly144Trp) rs387906881 0.00009
NM_005670.4(EPM2A):c.721C>T (p.Arg241Ter) rs104893950 0.00003
NM_001242896.3(DEPDC5):c.21C>G (p.Tyr7Ter) rs768241563 0.00001
NM_005506.4(SCARB2):c.1270C>T (p.Arg424Ter) rs886041078 0.00001
NM_005506.4(SCARB2):c.862C>T (p.Gln288Ter) rs121909118 0.00001
NM_001112741.2(KCNC1):c.959G>A (p.Arg320His) rs727502818
NM_001242896.3(DEPDC5):c.856C>T (p.Arg286Ter) rs886039255
NM_005506.4(SCARB2):c.434_435dup (p.Trp146fs) rs727502773
NM_020822.3(KCNT1):c.1193G>A (p.Arg398Gln) rs397515407

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.