ClinVar Miner

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

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Total variants: 27
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HGVS dbSNP
NM_000303.3(PMM2):c.135C>T (p.Gly45=)
NM_000303.3(PMM2):c.15C>A (p.Gly5=)
NM_000303.3(PMM2):c.162G>A (p.Glu54=)
NM_000303.3(PMM2):c.179-4G>T
NM_000303.3(PMM2):c.24C>G (p.Leu8=)
NM_000303.3(PMM2):c.256-10C>T
NM_000303.3(PMM2):c.256-7C>T
NM_000303.3(PMM2):c.300C>T (p.Ile100=)
NM_000303.3(PMM2):c.339G>A (p.Pro113=) rs149849259
NM_000303.3(PMM2):c.348-5C>A
NM_000303.3(PMM2):c.348-9C>A
NM_000303.3(PMM2):c.384C>T (p.Asn128=) rs147068457
NM_000303.3(PMM2):c.390C>T (p.Ser130=)
NM_000303.3(PMM2):c.414A>G (p.Gln138=)
NM_000303.3(PMM2):c.441C>G (p.Leu147=) rs146990448
NM_000303.3(PMM2):c.447+7C>G
NM_000303.3(PMM2):c.524-4del
NM_000303.3(PMM2):c.524-6C>T
NM_000303.3(PMM2):c.573C>T (p.Tyr191=)
NM_000303.3(PMM2):c.597C>T (p.Asp199=) rs376412367
NM_000303.3(PMM2):c.634A>G (p.Met212Val) rs3743808
NM_000303.3(PMM2):c.639+10G>A
NM_000303.3(PMM2):c.66+13_66+20del
NM_000303.3(PMM2):c.66+5G>A
NM_000303.3(PMM2):c.699G>A (p.Ala233=)
NM_000303.3(PMM2):c.712C>T (p.Arg238Cys)
NM_000303.3(PMM2):c.713G>A (p.Arg238His) rs151319324

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