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

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 10

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_004287.5(GOSR2):c.336+1G>A	rs141554661	0.00026
NM_018100.4(EFHC1):c.1612C>T (p.Arg538Ter)	rs149998588	0.00001
NM_020822.3(KCNT1):c.2782C>T (p.Arg928Cys)	rs397515405	0.00001
NM_001077350.3(NPRL3):c.189-1G>A	rs1900184374
NM_001134407.3(GRIN2A):c.1841A>G (p.Asn614Ser)	rs869312916
NM_001134407.3(GRIN2A):c.593G>A (p.Trp198Ter)	rs1555455727
NM_006922.4(SCN3A):c.2624T>C (p.Ile875Thr)	rs1057518801
NM_020822.3(KCNT1):c.1066C>T (p.Arg356Trp)	rs752514808
NM_020822.3(KCNT1):c.1193G>A (p.Arg398Gln)	rs397515407
NM_198586.3(NHLRC1):c.368G>A (p.Trp123Ter)	rs1783750860

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.