ClinVar Miner

List of variants studied for Epilepsy, familial adult myoclonic, 2

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 10
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_020151.4(STARD7):c.418C>T (p.Arg140Cys) rs181733184 0.00006
NM_020151.4(STARD7):c.361C>T (p.Pro121Ser) rs200880792 0.00005
NC_000002.12:g.96197067AAAAT[(n)]/AAATG[(n)]
NM_000682.7(ADRA2B):c.274G>A (p.Asp92Asn) rs1397681630
NM_000682.7(ADRA2B):c.649G>A (p.Glu217Lys) rs371934652
NM_000682.7(ADRA2B):c.664C>T (p.Arg222Ter) rs786205528
NM_000682.7(ADRA2B):c.675_686delinsGTTTGGCAG (p.His225_Leu229delinsGlnPheGlyArg) rs879255577
NM_020151.3(STARD7):c.291-1572_291-1518ATTTT[376]ATTTC[274]
NM_020151.4(STARD7):c.175G>T (p.Gly59Cys) rs1436909374
NM_020151.4(STARD7):c.542A>G (p.Asn181Ser)

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.