ClinVar Miner

List of variants reported as uncertain significance for autosomal recessive syndromic cerebellar ataxia by Institute of Human Genetics, University of Goettingen

Included ClinVar conditions (7):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_015378.4(VPS13D):c.4022C>T (p.Ser1341Leu) rs12407578 0.00280
NM_015378.4(VPS13D):c.2065C>T (p.Arg689Trp) rs775767366 0.00001

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