ClinVar Miner

List of variants reported as uncertain significance for cerebellar ataxia by O&I group, Department of Genetics, University Medical Center of Groningen

Included ClinVar conditions (256):
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ClinVar version:
Total variants: 34
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HGVS dbSNP gnomAD frequency
NM_001080414.4(CCDC88C):c.6026C>T (p.Pro2009Leu) rs201940261 0.00078
NM_005245.4(FAT1):c.7130C>T (p.Thr2377Met) rs201363601 0.00071
NM_005245.4(FAT1):c.8991G>A (p.Thr2997=) rs138496810 0.00071
NM_001447.3(FAT2):c.12464C>G (p.Ser4155Cys) rs145466001 0.00031
NM_198994.3(TGM6):c.1171G>A (p.Val391Met) rs116904482 0.00026
NM_013236.4(ATXN10):c.404G>T (p.Gly135Val) rs199766375 0.00016
NM_006946.4(SPTBN2):c.7109G>A (p.Arg2370His) rs145522851 0.00011
NM_005245.4(FAT1):c.1940C>T (p.Ala647Val) rs200988247 0.00008
NM_024411.5(PDYN):c.635G>A (p.Arg212Gln) rs138498390 0.00008
NM_005245.4(FAT1):c.8041C>T (p.Pro2681Ser) rs369221848 0.00007
NM_001127222.2(CACNA1A):c.6400C>T (p.Arg2134Cys) rs121908235 0.00006
NM_018012.4(KIF26B):c.2605G>A (p.Gly869Arg) rs199690740 0.00006
NM_006946.4(SPTBN2):c.1522A>C (p.Asn508His) rs767775507 0.00005
NM_005245.4(FAT1):c.6808G>A (p.Asp2270Asn) rs200538725 0.00004
NM_005245.4(FAT1):c.544G>A (p.Gly182Arg) rs1425607166 0.00003
NM_001377405.1(ATXN7):c.2528C>T (p.Ser843Leu) rs376606208 0.00002
NM_001447.3(FAT2):c.12899T>C (p.Met4300Thr) rs1443089616 0.00002
NM_001127222.2(CACNA1A):c.3149T>C (p.Ile1050Thr) rs2057414053 0.00001
NM_001278064.2(GRM1):c.3236C>T (p.Pro1079Leu) rs145216301 0.00001
NM_001365792.1(DAB1):c.209G>A (p.Gly70Asp) rs776275848 0.00001
NM_001429.4(EP300):c.214C>A (p.Gln72Lys) rs539635560 0.00001
NM_006946.4(SPTBN2):c.6169G>T (p.Ala2057Ser) rs1940323398 0.00001
NM_001127222.2(CACNA1A):c.1583T>C (p.Leu528Pro) rs2145030753
NM_001127222.2(CACNA1A):c.5139T>A (p.Phe1713Leu) rs2144646945
NM_001127222.2(CACNA1A):c.5651T>A (p.Val1884Asp) rs2144595194
NM_001130698.2(TRPC3):c.949G>A (p.Glu317Lys) rs2149142103
NM_001372574.1(ATXN2):c.494T>C (p.Met165Thr) rs762930876
NM_004977.3(KCNC3):c.1130T>C (p.Leu377Pro) rs2123535291
NM_004977.3(KCNC3):c.1876G>T (p.Gly626Trp) rs368232448
NM_005245.4(FAT1):c.5762G>T (p.Gly1921Val) rs2126519477
NM_006796.3(AFG3L2):c.2143C>T (p.Leu715Phe) rs1907781566
NM_018012.4(KIF26B):c.1340G>A (p.Gly447Glu) rs2103102844
NM_018012.4(KIF26B):c.2023G>C (p.Asp675His) rs752143373
NM_021814.5(ELOVL5):c.490G>A (p.Gly164Ser) rs1766062667

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