ClinVar Miner

List of variants studied for cerebellar ataxia by Centre for Inherited Metabolic Diseases, Karolinska University Hospital

Included ClinVar conditions (253):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_020247.5(COQ8A):c.811C>T (p.Arg271Cys) rs145034527 0.00004
NM_001378452.1(ITPR1):c.755C>T (p.Thr252Ile) rs2125159718
NM_001378452.1(ITPR1):c.7798A>C (p.Thr2600Pro) rs2106494596
NM_014363.6(SACS):c.8793dup (p.Arg2932fs) rs767871841
NM_014363.6(SACS):c.9866C>G (p.Ser3289Ter) rs2137580127
NM_020247.5(COQ8A):c.1579dup (p.Arg527fs)

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