ClinVar Miner

List of variants in gene KCNT1 studied for Early infantile epileptic encephalopathy 14

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 32
Download table as spreadsheet
HGVS dbSNP
NM_020822.3(KCNT1):c.1016T>G (p.Leu339Arg)
NM_020822.3(KCNT1):c.1193G>A (p.Arg398Gln) rs397515407
NM_020822.3(KCNT1):c.1225C>T (p.Pro409Ser) rs1588344733
NM_020822.3(KCNT1):c.1283G>A (p.Arg428Gln)
NM_020822.3(KCNT1):c.136C>T (p.Leu46Phe) rs869312682
NM_020822.3(KCNT1):c.1406A>T (p.His469Leu) rs1554774322
NM_020822.3(KCNT1):c.1421G>A (p.Arg474His)
NM_020822.3(KCNT1):c.1546A>G (p.Met516Val) rs886041691
NM_020822.3(KCNT1):c.1885A>C (p.Lys629Gln)
NM_020822.3(KCNT1):c.2044C>T (p.Arg682Trp) rs750994724
NM_020822.3(KCNT1):c.2280C>G (p.Ile760Met) rs370521183
NM_020822.3(KCNT1):c.2341C>G (p.Leu781Val)
NM_020822.3(KCNT1):c.2543A>G (p.Glu848Gly) rs149804567
NM_020822.3(KCNT1):c.2678A>T (p.Glu893Val)
NM_020822.3(KCNT1):c.2686A>G (p.Met896Val)
NM_020822.3(KCNT1):c.2729G>A (p.Arg910Gln) rs151272083
NM_020822.3(KCNT1):c.2794T>A (p.Phe932Ile) rs886044717
NM_020822.3(KCNT1):c.2795T>C (p.Phe932Ser) rs1564383774
NM_020822.3(KCNT1):c.2800G>A (p.Ala934Thr) rs397515403
NM_020822.3(KCNT1):c.2849G>A (p.Arg950Gln)
NM_020822.3(KCNT1):c.3059G>A (p.Arg1020His) rs373365707
NM_020822.3(KCNT1):c.3072C>T (p.Arg1024=) rs141695705
NM_020822.3(KCNT1):c.3152C>T (p.Ser1051Leu) rs375749415
NM_020822.3(KCNT1):c.3338C>A (p.Ala1113Asp) rs1193627908
NM_020822.3(KCNT1):c.3407A>G (p.Gln1136Arg)
NM_020822.3(KCNT1):c.3451G>A (p.Glu1151Lys) rs767450181
NM_020822.3(KCNT1):c.3502+1584G>A rs759235951
NM_020822.3(KCNT1):c.600+59A>C rs59909130
NM_020822.3(KCNT1):c.600+60G>A rs56375931
NM_020822.3(KCNT1):c.600+71dup rs879903723
NM_020822.3(KCNT1):c.800T>C (p.Met267Thr) rs1564354299
NM_020822.3(KCNT1):c.862G>A (p.Gly288Ser) rs587777264

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.