ClinVar Miner

List of variants studied for autosomal recessive congenital cerebellar ataxia by Neuberg Centre For Genomic Medicine, NCGM

Included ClinVar conditions (52):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 21
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_003383.5(VLDLR):c.1667G>A (p.Arg556Gln) rs746518411 0.00011
NM_001134831.2(AHI1):c.1694G>A (p.Arg565His) rs372894716 0.00007
NM_025114.4(CEP290):c.5668G>T (p.Gly1890Ter) rs137852832 0.00006
NM_025114.4(CEP290):c.2722C>T (p.Arg908Ter) rs886042153 0.00003
NM_001134831.2(AHI1):c.2560T>C (p.Cys854Arg) rs1387769677 0.00002
NM_001134831.2(AHI1):c.1933C>T (p.Arg645Cys) rs1291908829 0.00001
NM_001382391.1(CSPP1):c.3229G>A (p.Gly1077Ser) rs1835967725 0.00001
NM_001163809.2(WDR81):c.1735G>A (p.Gly579Arg)
NM_001163809.2(WDR81):c.2410C>T (p.Arg804Ter)
NM_001329943.3(KIAA0586):c.1233G>T (p.Trp411Cys) rs548318176
NM_001378615.1(CC2D2A):c.667G>A (p.Glu223Lys)
NM_003383.5(VLDLR):c.263G>A (p.Arg88Gln)
NM_003383.5(VLDLR):c.769C>T (p.Arg257Ter) rs80338907
NM_015160.3(PMPCA):c.1099G>A (p.Val367Met)
NM_015272.5(RPGRIP1L):c.2891del (p.Pro964fs)
NM_016529.6(ATP8A2):c.2314G>C (p.Ala772Pro) rs764092726
NM_018718.3(CEP41):c.856C>T (p.Arg286Ter)
NM_025114.4(CEP290):c.2390del (p.Lys797fs) rs781670422
NM_025114.4(CEP290):c.64GAA[1] (p.Glu23del) rs780211907
NM_032856.5(WDR73):c.287G>A (p.Arg96Lys) rs797044995
NM_032856.5(WDR73):c.647G>A (p.Ser216Asn)

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.