ClinVar Miner

List of variants reported as likely benign for amyotrophic lateral sclerosis type 9 by Illumina Laboratory Services, Illumina

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 8
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001097577.3(ANG):c.*139A>G rs542458460 0.00108
NM_001097577.3(ANG):c.122A>T (p.Lys41Ile) rs121909536 0.00091
NM_001097577.3(ANG):c.208A>G (p.Ile70Val) rs121909541 0.00073
NM_002937.5(RNASE4):c.-18+11A>C rs184963428 0.00033
NM_001097577.3(ANG):c.441G>A (p.Pro147=) rs759928848 0.00002
NM_001097577.3(ANG):c.365C>T (p.Ala122Val) rs374766597 0.00001
NM_001097577.3(ANG):c.*10C>T rs778543068
NM_001097577.3(ANG):c.99C>T (p.Phe33=) rs563139057

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.