List of variants in gene KCTD7 reported as pathogenic for adolescent-onset epilepsy syndrome

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

Total variants: 23

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_153033.5(KCTD7):c.251G>A (p.Arg84Gln)	rs200575329	0.00002
NM_153033.5(KCTD7):c.280C>T (p.Arg94Trp)	rs387907260	0.00001
NM_153033.5(KCTD7):c.281G>A (p.Arg94Gln)	rs984651812	0.00001
NM_153033.5(KCTD7):c.533C>T (p.Ala178Val)	rs368001837	0.00001
NM_153033.5(KCTD7):c.550C>T (p.Arg184Cys)	rs387907246	0.00001
NM_153033.5(KCTD7):c.827A>G (p.Tyr276Cys)	rs141191660	0.00001
NC_000007.13:g.(?_66094052)_(66104219_?)del
NC_000007.13:g.(?_66103220)_(66104219_?)del
NC_000007.14:g.(?_66629045)_(66640414_?)del
NC_000007.14:g.(?_66638233)_(66639252_?)del
NM_153033.5(KCTD7):c.205C>G (p.Leu69Val)	rs2116763829
NM_153033.5(KCTD7):c.295C>T (p.Arg99Ter)	rs267607199
NM_153033.5(KCTD7):c.322C>A (p.Leu108Met)	rs387907263
NM_153033.5(KCTD7):c.331del (p.Leu111fs)	rs1786631768
NM_153033.5(KCTD7):c.335G>A (p.Arg112His)	rs774026720
NM_153033.5(KCTD7):c.339_340del (p.Asp115fs)	rs2116773782
NM_153033.5(KCTD7):c.343G>T (p.Asp115Tyr)	rs387907262
NM_153033.5(KCTD7):c.367C>T (p.Arg123Ter)
NM_153033.5(KCTD7):c.388C>T (p.Gln130Ter)	rs1207922864
NM_153033.5(KCTD7):c.594del (p.Ile199fs)	rs727502785
NM_153033.5(KCTD7):c.631C>T (p.Arg211Ter)	rs750811871
NM_153033.5(KCTD7):c.696del (p.Phe232fs)	rs2116775509
NM_153033.5(KCTD7):c.818A>T (p.Asn273Ile)	rs387907261

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.