ClinVar Miner

List of variants in gene PMM2 studied for Cerebellar ataxia

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Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_000303.3(PMM2):c.422G>A (p.Arg141His) rs28936415 0.00338
NM_000303.3(PMM2):c.584A>G (p.His195Arg) rs1596489887

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