ClinVar Miner

List of variants reported as likely pathogenic for Autosomal recessive spinocerebellar ataxia 10

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 13
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_018075.5(ANO10):c.1843G>A (p.Asp615Asn) rs138000380 0.00035
NM_018075.5(ANO10):c.139+1G>T rs777450156 0.00003
NM_018075.5(ANO10):c.1163-9A>G rs1368543726 0.00001
NC_000003.11:g.(43474220_43591211)_(43602895_43607144)del
NC_000003.11:g.(43640159_43641875)_(43647356_43663400)del
NM_018075.5(ANO10):c.1009T>G (p.Phe337Val) rs1227163239
NM_018075.5(ANO10):c.101G>A (p.Trp34Ter)
NM_018075.5(ANO10):c.1056dup (p.Glu353Ter)
NM_018075.5(ANO10):c.1162+1G>A
NM_018075.5(ANO10):c.132dup (p.Asp45fs) rs540331226
NM_018075.5(ANO10):c.1537T>C (p.Cys513Arg) rs1575415900
NM_018075.5(ANO10):c.1735C>T (p.Gln579Ter)
NM_018075.5(ANO10):c.1A>G (p.Met1Val)

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.