ClinVar Miner

List of variants studied for autosomal dominant cerebellar ataxia by Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen

Included ClinVar conditions (78):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 12
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001127222.2(CACNA1A):c.1984C>T (p.Gln662Ter) rs1064795856
NM_001378969.1(KCND3):c.1070C>T (p.Ser357Leu) rs867628133
NM_001378969.1(KCND3):c.1129A>G (p.Thr377Ala)
NM_002739.5(PRKCG):c.347A>G (p.His116Arg) rs2068657131
NM_002739.5(PRKCG):c.355T>C (p.Ser119Pro) rs121918512
NM_005861.4(STUB1):c.669+2T>C
NM_006133.3(DAGLA):c.2437_2446del (p.Leu813fs)
NM_006946.4(SPTBN2):c.1615G>A (p.Asp539Asn)
NM_015215.4(CAMTA1):c.1798dup (p.Ser600fs)
NM_018896.5(CACNA1G):c.2320G>A (p.Ala774Thr)
NM_130837.3(OPA1):c.460A>T (p.Lys154Ter)
NM_152296.5(ATP1A3):c.2452G>A (p.Glu818Lys) rs587777771

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.