List of variants studied for infantile spasms by Génétique des Maladies du Développement, Hospices Civils de Lyon

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

Total variants: 17

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000834.5(GRIN2B):c.2065G>A (p.Gly689Ser)
NM_000834.5(GRIN2B):c.2392A>C (p.Thr798Pro)	rs1948653017
NM_000834.5(GRIN2B):c.2560del (p.Cys854fs)
NM_000834.5(GRIN2B):c.2749T>G (p.Ser917Ala)	rs2136406174
NM_000834.5(GRIN2B):c.3028C>T (p.Pro1010Ser)
NM_001037343.1:c.100-?_744+?dup
NM_001040142.2(SCN2A):c.685T>A (p.Ser229Thr)	rs1553567561
NM_001130438.3(SPTAN1):c.6406G>C (p.Glu2136Gln)	rs755273355
NM_001130438.3(SPTAN1):c.980T>C (p.Leu327Pro)	rs1851427709
NM_001323289.2(CDKL5):c.119C>T (p.Ala40Val)	rs122460159
NM_001323289.2(CDKL5):c.135G>C (p.Lys45Asn)	rs1602263431
NM_001323289.2(CDKL5):c.1675C>T (p.Arg559Ter)	rs267608395
NM_001323289.2(CDKL5):c.1976_1977del (p.Val659fs)	rs2147164191
NM_001323289.2(CDKL5):c.2276+1G>A	rs1602292181
NM_001323289.2(CDKL5):c.354_361del (p.Leu119fs)	rs1925421198
NM_001323289.2(CDKL5):c.394G>T (p.Val132Phe)	rs1569213917
NM_001323289.2(CDKL5):c.898_899del (p.Gln300fs)	rs1602282699

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.