ClinVar Miner

List of variants reported as likely pathogenic for autosomal dominant cerebellar ataxia by Institute of Human Genetics, University of Leipzig Medical Center

Included ClinVar conditions (77):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_004977.3(KCNC3):c.1223A>G (p.Asp408Gly) rs2037067131 0.00001
NM_001127222.2(CACNA1A):c.5439dup (p.Glu1814Ter) rs2055612253
NM_001130823.3(DNMT1):c.1814G>C (p.Gly605Ala) rs397509393
NM_001378452.1(ITPR1):c.1534G>A (p.Glu512Lys) rs2125193560
NM_001378969.1(KCND3):c.869G>A (p.Arg290Gln) rs1674966041
NM_005861.4(STUB1):c.427AAG[2] (p.Lys145del) rs779647632
NM_005861.4(STUB1):c.646dup (p.Ser216fs) rs1555475283
NM_015215.4(CAMTA1):c.4759C>T (p.Gln1587Ter) rs2150160765
NM_173500.4(TTBK2):c.1675del (p.Gln559fs) rs2140757755

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