ClinVar Miner

List of variants reported as uncertain significance for Epileptic encephalopathy by Neurogenetics Laboratory - MEYER, AOU Meyer

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 9
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001134407.3(GRIN2A):c.2966A>G (p.Asn989Ser) rs531782747 0.00005
NM_000815.5(GABRD):c.1108G>A (p.Val370Ile) rs1057519556 0.00001
NM_000330.4(RS1):c.185-3260C>T rs866859766
NM_000702.4(ATP1A2):c.1777C>T (p.Arg593Trp) rs886039530
NM_000834.5(GRIN2B):c.43G>A (p.Val15Met) rs1057519553
NM_001134407.3(GRIN2A):c.1138A>G (p.Asn380Asp) rs1057519551
NM_001242896.3(DEPDC5):c.2183_2185delinsTCT (p.Ser728_Ala729delinsPheSer) rs1057519555
NM_001330260.2(SCN8A):c.920A>G (p.Asn307Ser) rs1057519557
NM_020822.3(KCNT1):c.1799G>A (p.Arg600Gln) rs773621687

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.