ClinVar Miner

List of variants in gene PMM2 reported by GeneDx

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Gene type:
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Total variants: 38
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HGVS dbSNP
NM_000303.3(PMM2):c.*10G>A rs200930493
NM_000303.3(PMM2):c.*17G>A rs9936097
NM_000303.3(PMM2):c.*18C>T rs200464135
NM_000303.3(PMM2):c.*19G>A rs375731567
NM_000303.3(PMM2):c.*2G>A rs773232556
NM_000303.3(PMM2):c.-15C>G rs202199014
NM_000303.3(PMM2):c.-35A>T rs766596446
NM_000303.3(PMM2):c.110A>T (p.Gln37Leu) rs2304472
NM_000303.3(PMM2):c.157C>T (p.Gln53Ter) rs1057520708
NM_000303.3(PMM2):c.310C>G (p.Leu104Val) rs770458492
NM_000303.3(PMM2):c.323C>T (p.Ala108Val) rs200503569
NM_000303.3(PMM2):c.324G>A (p.Ala108=) rs62031146
NM_000303.3(PMM2):c.324del (p.Ile110fs) rs1555449314
NM_000303.3(PMM2):c.337C>A (p.Pro113Thr) rs765433263
NM_000303.3(PMM2):c.348-19G>A rs1057523353
NM_000303.3(PMM2):c.348-8A>G rs186061775
NM_000303.3(PMM2):c.366C>T (p.Phe122=) rs145714866
NM_000303.3(PMM2):c.367C>T (p.Arg123Ter) rs191295403
NM_000303.3(PMM2):c.368G>A (p.Arg123Gln) rs141498002
NM_000303.3(PMM2):c.385G>A (p.Val129Met) rs104894525
NM_000303.3(PMM2):c.392del (p.Pro131fs) rs1555449607
NM_000303.3(PMM2):c.415G>A (p.Glu139Lys) rs80338703
NM_000303.3(PMM2):c.422G>A (p.Arg141His) rs28936415
NM_000303.3(PMM2):c.430T>C (p.Phe144Leu) rs150719105
NM_000303.3(PMM2):c.447+19T>C rs11074924
NM_000303.3(PMM2):c.447+4C>T rs537238935
NM_000303.3(PMM2):c.447+5G>A rs367852554
NM_000303.3(PMM2):c.448-20dup rs1555449656
NM_000303.3(PMM2):c.470T>C (p.Phe157Ser) rs190521996
NM_000303.3(PMM2):c.484C>T (p.Arg162Trp) rs104894526
NM_000303.3(PMM2):c.590A>C (p.Glu197Ala) rs34258285
NM_000303.3(PMM2):c.597C>T (p.Asp199=) rs376412367
NM_000303.3(PMM2):c.639+19G>C rs145473288
NM_000303.3(PMM2):c.640-13C>T rs372181885
NM_000303.3(PMM2):c.647A>G (p.Asn216Ser) rs78290141
NM_000303.3(PMM2):c.66+5G>A
NM_000303.3(PMM2):c.90C>G (p.Asp30Glu) rs201556985
NM_000303.3(PMM2):c.93C>T (p.Phe31=) rs61730638

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