ClinVar Miner

List of variants reported as pathogenic for cerebellar hypoplasia-tapetoretinal degeneration syndrome by Mitochondrial Disorders Lab i+12, Hospital Universitario 12 de Octubre

Included ClinVar conditions (31):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 1
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HGVS dbSNP
NM_001170535.3(ATAD3A):c.1217T>G (p.Leu406Arg) rs1570345942

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