ClinVar Miner

List of variants studied for autosomal dominant cerebellar ataxia by Solve-RD Consortium

Included ClinVar conditions (86):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 17
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
GRCh37/hg19 3p26.1(chr3:4669445-4859925)x1
NM_001080414.4(CCDC88C):c.1702C>T (p.Arg568Ter)
NM_001114748.2(TMEM240):c.196G>A (p.Gly66Arg) rs1057518011
NM_001378452.1(ITPR1):c.4684G>A (p.Val1562Met) rs397514535
NM_001378452.1(ITPR1):c.773A>T (p.Lys258Met)
NM_001378452.1(ITPR1):c.805C>T (p.Arg269Trp) rs886039392
NM_001378969.1(KCND3):c.1130C>T (p.Thr377Met) rs1571636501
NM_002739.5(PRKCG):c.187G>C (p.Gly63Arg)
NM_002739.5(PRKCG):c.302A>G (p.His101Arg) rs2068656783
NM_002739.5(PRKCG):c.323A>G (p.Tyr108Cys) rs2122988484
NM_002739.5(PRKCG):c.457G>C (p.Asp153His)
NM_006796.3(AFG3L2):c.2012G>A (p.Gly671Glu) rs151344518
NM_006796.3(AFG3L2):c.2067_2068del (p.Tyr689_Ser690delinsTer) rs765987297
NM_018896.5(CACNA1G):c.4591A>T (p.Met1531Leu)
NM_018896.5(CACNA1G):c.6394C>T (p.Arg2132Cys)
NM_152703.5(SAMD9L):c.3353A>G (p.Tyr1118Cys) rs1562789302
NM_198994.3(TGM6):c.110C>A (p.Ser37Ter)

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.