ClinVar Miner

List of variants studied for Infantile cerebellar-retinal degeneration by Mayo Clinic Laboratories, Mayo Clinic

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Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_001098.3(ACO2):c.2050C>T (p.Arg684Trp) rs768950391 0.00006
NM_001098.3(ACO2):c.2153T>C (p.Ile718Thr) rs1569026431

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