ClinVar Miner

List of variants reported as uncertain significance for autosomal recessive congenital cerebellar ataxia by Medical Genetics Laboratory, Tarbiat Modares University

Included ClinVar conditions (52):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_016529.6(ATP8A2):c.1312A>G (p.Met438Val) rs2039065206
NM_016529.6(ATP8A2):c.2473G>C (p.Asp825His) rs796952533

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