ClinVar Miner

List of variants in gene PMM2 studied for Cerebellar ataxia

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

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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