List of variants studied for childhood-onset epilepsy syndrome by GenomeConnect, ClinGen

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
		ClinVar version:

Total variants: 14

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000744.7(CHRNA4):c.296G>A (p.Arg99His)	rs143103435	0.00021
NM_018100.4(EFHC1):c.817G>T (p.Val273Leu)	rs369926953	0.00012
NM_000748.3(CHRNB2):c.277A>T (p.Thr93Ser)	rs752355994	0.00001
NM_000814.6(GABRB3):c.928C>A (p.Leu310Ile)	rs1889964767
NM_001134407.3(GRIN2A):c.1983A>G (p.Gln661=)	rs1327079068
NM_001271.4(CHD2):c.5035C>T (p.Arg1679Ter)	rs797044912
NM_001271.4(CHD2):c.5202A>C (p.Gln1734His)	rs1009699195
NM_003042.4(SLC6A1):c.863C>T (p.Ala288Val)	rs794726860
NM_003042.4(SLC6A1):c.871C>T (p.Gln291Ter)	rs1064795098
NM_004519.4(KCNQ3):c.688C>T (p.Arg230Cys)	rs796052676
NM_005045.4(RELN):c.1760A>G (p.Asn587Ser)	rs1562940963
NM_005506.4(SCARB2):c.434_435dup (p.Trp146fs)	rs727502773
NM_018896.5(CACNA1G):c.3315C>A (p.Ser1105Arg)	rs1216562585
NM_018896.5(CACNA1G):c.6508T>A (p.Trp2170Arg)

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.