ClinVar Miner

List of variants reported as likely pathogenic for autosomal recessive congenital cerebellar ataxia by Centre for Translational Omics - GOSgene, University College London

Included ClinVar conditions (52):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 1
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HGVS dbSNP gnomAD frequency
NM_001378615.1(CC2D2A):c.585_586dup (p.Thr196fs) rs1392635342

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