ClinVar Miner

List of variants studied for adolescent-onset epilepsy syndrome by Baylor Miraca Genetics Laboratories,

Included ClinVar conditions (80):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 11
Download table as spreadsheet
HGVS dbSNP
NM_000391.4(TPP1):c.1094G>A (p.Cys365Tyr) rs119455954
NM_000391.4(TPP1):c.1098G>A (p.Trp366Ter) rs1564854729
NM_000726.4(CACNB4):c.610del (p.Gln204fs) rs1057518688
NM_000746.6(CHRNA7):c.241-1G>A rs1566846736
NM_001134407.3(GRIN2A):c.1913C>T (p.Ala638Val) rs1567329011
NM_001161352.2(KCNMA1):c.1060G>A (p.Gly354Ser) rs1564596167
NM_018100.4(EFHC1):c.1612C>T (p.Arg538Ter) rs149998588
NM_020822.3(KCNT1):c.1066C>T (p.Arg356Trp) rs752514808
NM_020822.3(KCNT1):c.1193G>A (p.Arg398Gln) rs397515407
NM_153033.4(KCTD7):c.458G>A (p.Arg153His)
NM_198859.4(PRICKLE2):c.380del (p.Gly127fs) rs797045065

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.