ClinVar Miner

List of variants studied for PMM2-congenital disorder of glycosylation by Revvity Omics, Revvity

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Total variants: 12
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HGVS dbSNP gnomAD frequency
NM_000303.3(PMM2):c.422G>A (p.Arg141His) rs28936415 0.00368
NM_000303.3(PMM2):c.470T>C (p.Phe157Ser) rs190521996 0.00042
NM_000303.3(PMM2):c.634A>G (p.Met212Val) rs3743808 0.00014
NM_000303.3(PMM2):c.255+2T>C rs139716296 0.00007
NM_000303.3(PMM2):c.430T>C (p.Phe144Leu) rs150719105 0.00006
NM_000303.3(PMM2):c.338C>T (p.Pro113Leu) rs80338700 0.00001
NM_000303.3(PMM2):c.261T>G (p.Ile87Met) rs779314278
NM_000303.3(PMM2):c.348-2_348-1insAA rs2549146945
NM_000303.3(PMM2):c.359T>A (p.Ile120Asn) rs368582085
NM_000303.3(PMM2):c.703G>T (p.Glu235Ter) rs763091085
NM_000303.3(PMM2):c.710C>G (p.Thr237Arg) rs80338708
NM_000303.3(PMM2):c.710C>T (p.Thr237Met) rs80338708

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