List of variants reported as likely pathogenic for Myoclonic-atonic epilepsy

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: 19

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_003042.4(SLC6A1):c.1000G>A (p.Ala334Thr)	rs749240316
NM_003042.4(SLC6A1):c.1078+1G>C
NM_003042.4(SLC6A1):c.1099G>A (p.Ala367Thr)	rs1697748409
NM_003042.4(SLC6A1):c.1328G>A (p.Gly443Asp)	rs1697891755
NM_003042.4(SLC6A1):c.1427-1G>A	rs1553691674
NM_003042.4(SLC6A1):c.1460T>C (p.Met487Thr)	rs1559639240
NM_003042.4(SLC6A1):c.1527+1G>A
NM_003042.4(SLC6A1):c.1695+1G>A
NM_003042.4(SLC6A1):c.223G>C (p.Gly75Arg)	rs1064795852
NM_003042.4(SLC6A1):c.224G>A (p.Gly75Glu)	rs2124905654
NM_003042.4(SLC6A1):c.370+2T>C
NM_003042.4(SLC6A1):c.370+2del	rs2124907093
NM_003042.4(SLC6A1):c.471+1G>T	rs1559623389
NM_003042.4(SLC6A1):c.472-1G>C	rs1697337518
NM_003042.4(SLC6A1):c.581+1G>C
NM_003042.4(SLC6A1):c.809T>C (p.Phe270Ser)	rs1553689580
NM_003042.4(SLC6A1):c.862G>A (p.Ala288Thr)	rs2124924976
NM_003042.4(SLC6A1):c.901_909del (p.Gly301_Leu303del)
NM_003042.4(SLC6A1):c.991A>G (p.Ser331Gly)	rs2124926212

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.