ClinVar Miner

List of variants reported as benign for amyotrophic lateral sclerosis type 1 by DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 7
Download table as spreadsheet
NM_021076.4(NEFH):c.1200C>T (p.Ala400=) rs165734
NM_021076.4(NEFH):c.1387G>A (p.Glu463Lys) rs59371099
NM_021076.4(NEFH):c.1844C>T (p.Pro615Leu) rs5763269
NM_021076.4(NEFH):c.1947_1964dup (p.646_651AKSPEK[3]) rs147489453
NM_021076.4(NEFH):c.2232T>C (p.Ala744=) rs165923
NM_021076.4(NEFH):c.2414A>C (p.Glu805Ala) rs165602
NM_021076.4(NEFH):c.2784A>G (p.Val928=) rs165625

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.