ClinVar Miner

List of variants in gene PMM2 reported by Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics

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Total variants: 6
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HGVS dbSNP
NM_000303.3(PMM2):c.422G>A (p.Arg141His) rs28936415
NM_000303.3(PMM2):c.442G>A (p.Asp148Asn) rs148032587
NM_000303.3(PMM2):c.527G>A (p.Gly176Asp) rs940938678
NM_000303.3(PMM2):c.710C>T (p.Thr237Met) rs80338708
NM_000303.3(PMM2):c.713G>A (p.Arg238His) rs151319324
NM_000303.3(PMM2):c.722G>C (p.Cys241Ser) rs80338709

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