ClinVar Miner

List of variants in gene DNM1, LOC130002699 studied for childhood-onset epilepsy syndrome with developmental and/or epileptic encephalopathy

Included ClinVar conditions (14):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 26
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_004408.4(DNM1):c.2420C>G (p.Ser807Cys) rs935756107 0.00022
NM_004408.4(DNM1):c.2430G>A (p.Gly810=) rs1007155416 0.00016
NM_004408.4(DNM1):c.2427G>T (p.Leu809=) rs897409469 0.00003
NM_004408.4(DNM1):c.2418G>T (p.Gly806=) rs1413872976 0.00001
NM_004408.4(DNM1):c.2423C>T (p.Ala808Val) rs1474835177 0.00001
NM_004408.4(DNM1):c.2435C>A (p.Ala812Glu) rs1353174747 0.00001
NM_004408.4(DNM1):c.2455C>T (p.Pro819Ser) rs1131692001 0.00001
NM_004408.4(DNM1):c.2401G>A (p.Gly801Arg)
NM_004408.4(DNM1):c.2405C>T (p.Pro802Leu) rs1829472592
NM_004408.4(DNM1):c.2427G>C (p.Leu809=) rs897409469
NM_004408.4(DNM1):c.2429G>T (p.Gly810Val) rs888747029
NM_004408.4(DNM1):c.2430G>C (p.Gly810=)
NM_004408.4(DNM1):c.2434G>A (p.Ala812Thr)
NM_004408.4(DNM1):c.2434dup (p.Ala812fs) rs747024881
NM_004408.4(DNM1):c.2436G>T (p.Ala812=)
NM_004408.4(DNM1):c.2442C>G (p.Pro814=)
NM_004408.4(DNM1):c.2445G>T (p.Val815=)
NM_004408.4(DNM1):c.2455C>A (p.Pro819Thr)
NM_004408.4(DNM1):c.2466C>A (p.Ser822=)
NM_004408.4(DNM1):c.2467C>G (p.Pro823Ala) rs2131299716
NM_004408.4(DNM1):c.2467C>T (p.Pro823Ser) rs2131299716
NM_004408.4(DNM1):c.2469T>G (p.Pro823=)
NM_004408.4(DNM1):c.2474C>T (p.Pro825Leu) rs1295591580
NM_004408.4(DNM1):c.2483C>T (p.Pro828Leu) rs901408697
NM_004408.4(DNM1):c.2484T>A (p.Pro828=) rs888550421
NM_004408.4(DNM1):c.2486C>T (p.Pro829Leu)

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.