List of variants reported as pathogenic for cerebellar degeneration by Institute Of Human Genetics Munich, Klinikum Rechts Der Isar, Tu München

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 7

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
GRCh37/hg19 13q33.1(chr13:102521075-102568995)
NM_001114748.2(TMEM240):c.509C>T (p.Pro170Leu)	rs606231451
NM_001378969.1(KCND3):c.1130C>T (p.Thr377Met)	rs1571636501
NM_005861.4(STUB1):c.823dup (p.Leu275fs)	rs2039704361
NM_015215.4(CAMTA1):c.2416_2419del (p.Ser806fs)
NM_015215.4(CAMTA1):c.3585_3592del (p.Trp1197fs)	rs2096780961
NM_152296.5(ATP1A3):c.2312C>T (p.Thr771Ile)	rs557939077

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.