ClinVar Miner

List of variants studied for cerebellar disorder by Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn

Included ClinVar conditions (274):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 8
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000059.4(BRCA2):c.5857G>T (p.Glu1953Ter) rs80358814 0.00001
NM_000059.4(BRCA2):c.658_659del (p.Val220fs) rs80359604
NM_001020658.2(PUM1):c.2420C>T (p.Pro807Leu) rs779524509
NM_001127222.2(CACNA1A):c.5248C>T (p.Arg1750Trp) rs1568446845
NM_001130698.2(TRPC3):c.2216T>C (p.Leu739Pro)
NM_001378452.1(ITPR1):c.800C>T (p.Thr267Met) rs797044955
NM_001382391.1(CSPP1):c.2381_2382del (p.Lys794fs) rs1827118960
NM_004977.3(KCNC3):c.1268G>A (p.Arg423His) rs797044872

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.