ClinVar Miner

List of variants reported as pathogenic for cerebellar ataxia by Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen

Included ClinVar conditions (255):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 11
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HGVS dbSNP gnomAD frequency
NM_015046.7(SETX):c.5825T>C (p.Ile1942Thr) rs773379832 0.00001
NM_001127222.2(CACNA1A):c.1984C>T (p.Gln662Ter) rs1064795856
NM_001458.5(FLNC):c.5385dup (p.Gly1796fs) rs2128938102
NM_002739.5(PRKCG):c.355T>C (p.Ser119Pro) rs121918512
NM_014363.6(SACS):c.2387del (p.Leu796fs)
NM_015215.4(CAMTA1):c.1798dup (p.Ser600fs)
NM_130837.3(OPA1):c.460A>T (p.Lys154Ter)
NM_152296.5(ATP1A3):c.2452G>A (p.Glu818Lys) rs587777771
NM_182961.4(SYNE1):c.16111C>T (p.Arg5371Ter) rs772587027
NM_182961.4(SYNE1):c.1903dup (p.Met635fs)
NM_182961.4(SYNE1):c.99del (p.Phe33fs)

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