ClinVar Miner

List of variants reported as likely benign for cerebellar ataxia by Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center

Included ClinVar conditions (255):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 24
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_020247.5(COQ8A):c.1573-20C>G rs2297416 0.38143
NM_001379286.1(ZNF423):c.3361G>A (p.Ala1121Thr) rs147898137 0.01162
NM_020247.5(COQ8A):c.1053C>T (p.Gly351=) rs55958233 0.01103
NM_001379286.1(ZNF423):c.711C>T (p.Arg237=) rs16947744 0.00969
NM_004977.3(KCNC3):c.1641G>A (p.Ser547=) rs2301357 0.00867
NM_024411.5(PDYN):c.436A>C (p.Met146Leu) rs77155664 0.00698
NM_018075.5(ANO10):c.980A>G (p.Tyr327Cys) rs146569520 0.00359
NM_014363.6(SACS):c.3129A>G (p.Ser1043=) rs148878361 0.00292
NM_001128164.2(ATXN1):c.2150C>T (p.Ala717Val) rs41267702 0.00279
NM_001386140.1(MTTP):c.552A>T (p.Lys184Asn) rs144315111 0.00267
NM_001044385.3(TMEM237):c.348G>A (p.Ala116=) rs191125006 0.00163
NM_004115.4(FGF14):c.636T>C (p.His212=) rs41281644 0.00149
NM_001386140.1(MTTP):c.2433G>C (p.Leu811Phe) rs144590904 0.00141
NM_006946.4(SPTBN2):c.157+5G>A rs150159444 0.00081
NM_001379286.1(ZNF423):c.3300C>T (p.Cys1100=) rs147816446 0.00073
NM_000784.4(CYP27A1):c.1419C>T (p.Val473=) rs138596741 0.00037
NM_001386140.1(MTTP):c.2657C>T (p.Pro886Leu) rs144600401 0.00028
NM_004977.3(KCNC3):c.1884G>A (p.Ala628=) rs552133569 0.00023
NM_000784.4(CYP27A1):c.789C>T (p.Pro263=) rs143600636 0.00019
NM_006946.4(SPTBN2):c.1323C>T (p.Leu441=) rs764447133 0.00002
NM_000784.4(CYP27A1):c.432T>C (p.Tyr144=) rs1553616026 0.00001
NM_000784.4(CYP27A1):c.1471G>T (p.Ala491Ser) rs72551323
NM_001386140.1(MTTP):c.1770-10T>C rs1194740423
NM_004977.3(KCNC3):c.2170+14C>T rs189018316

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.