ClinVar Miner

List of variants in gene PMM2 reported as likely pathogenic for not provided

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Total variants: 8
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HGVS dbSNP
NM_000303.3(PMM2):c.323C>T (p.Ala108Val) rs200503569
NM_000303.3(PMM2):c.337C>A (p.Pro113Thr) rs765433263
NM_000303.3(PMM2):c.430T>C (p.Phe144Leu) rs150719105
NM_000303.3(PMM2):c.447+5G>A rs367852554
NM_000303.3(PMM2):c.527G>A (p.Gly176Asp) rs940938678
NM_000303.3(PMM2):c.647A>G (p.Asn216Ser) rs78290141
NM_000303.3(PMM2):c.652C>G (p.His218Asp) rs398123310
NM_000303.3(PMM2):c.91T>C (p.Phe31Leu) rs749720760

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