ClinVar Miner

List of variants reported as benign for amyotrophic lateral sclerosis by Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center

Included ClinVar conditions (70):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 7
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_021076.4(NEFH):c.2232T>C (p.Ala744=) rs165923 0.82375
NM_021076.4(NEFH):c.2784A>G (p.Val928=) rs165625 0.80626
NM_021076.4(NEFH):c.1844C>T (p.Pro615Leu) rs5763269 0.19153
NM_021076.4(NEFH):c.2414A>C (p.Glu805Ala) rs165602 0.14527
NM_021076.4(NEFH):c.1200C>T (p.Ala400=) rs165734 0.12411
NM_021076.4(NEFH):c.1387G>A (p.Glu463Lys) rs59371099 0.06827
NM_021076.4(NEFH):c.1947_1964dup (p.646_651AKSPEK[3]) rs147489453

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.