ClinVar Miner

List of variants studied for benign adult familial myoclonic epilepsy by Fulgent Genetics, Fulgent Genetics

Included ClinVar conditions (5):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 9
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_005076.5(CNTN2):c.391+12G>A rs16855012 0.01337
NM_018023.5(YEATS2):c.1601C>A (p.Thr534Lys) rs34759333 0.01226
NM_005076.5(CNTN2):c.1975A>G (p.Asn659Asp) rs41264871 0.00788
NM_005076.5(CNTN2):c.1287C>T (p.Pro429=) rs145911280 0.00202
NM_005076.5(CNTN2):c.1405C>A (p.Pro469Thr) rs147693556 0.00148
NM_005076.5(CNTN2):c.1695G>A (p.Val565=) rs148801784 0.00066
NM_005076.5(CNTN2):c.1460C>T (p.Thr487Ile) rs116647440 0.00047
NM_005076.5(CNTN2):c.2844+11A>C rs377297728 0.00019
NM_005076.5(CNTN2):c.2741G>A (p.Arg914Gln) rs373583840 0.00005

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.