ClinVar Miner

List of variants in gene PMM2 studied for not provided

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Total variants: 77
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HGVS dbSNP
GRCh37/hg19 16p13.2(chr16:8903059-8933005)x1
NM_000303.3(PMM2):c.110A>T (p.Gln37Leu) rs2304472
NM_000303.3(PMM2):c.135C>T (p.Gly45=)
NM_000303.3(PMM2):c.157C>T (p.Gln53Ter) rs1057520708
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.200T>G (p.Val67Gly) rs751986971
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.306C>T (p.Tyr102=)
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.324del (p.Ile110fs) rs1555449314
NM_000303.3(PMM2):c.337C>A (p.Pro113Thr) rs765433263
NM_000303.3(PMM2):c.337C>T (p.Pro113Ser) rs765433263
NM_000303.3(PMM2):c.338C>T (p.Pro113Leu) rs80338700
NM_000303.3(PMM2):c.339G>A (p.Pro113=) rs149849259
NM_000303.3(PMM2):c.348-58_348-56dup rs1799772
NM_000303.3(PMM2):c.348-5C>A
NM_000303.3(PMM2):c.348-9C>A
NM_000303.3(PMM2):c.352A>G (p.Thr118Ala) rs886043289
NM_000303.3(PMM2):c.357C>A (p.Phe119Leu) rs80338701
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.384C>T (p.Asn128=) rs147068457
NM_000303.3(PMM2):c.385G>A (p.Val129Met) rs104894525
NM_000303.3(PMM2):c.389C>G (p.Ser130Cys) rs886044305
NM_000303.3(PMM2):c.390C>T (p.Ser130=)
NM_000303.3(PMM2):c.392del (p.Pro131fs) rs1555449607
NM_000303.3(PMM2):c.399A>G (p.Gly133=) rs886043741
NM_000303.3(PMM2):c.408C>T (p.Cys136=) rs371694616
NM_000303.3(PMM2):c.414A>G (p.Gln138=)
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.426T>G (p.Ile142Met) rs781610241
NM_000303.3(PMM2):c.430T>C (p.Phe144Leu) rs150719105
NM_000303.3(PMM2):c.441C>G (p.Leu147=) rs146990448
NM_000303.3(PMM2):c.441C>T (p.Leu147=) rs146990448
NM_000303.3(PMM2):c.442G>A (p.Asp148Asn) rs148032587
NM_000303.3(PMM2):c.447+19T>C rs11074924
NM_000303.3(PMM2):c.447+5G>A rs367852554
NM_000303.3(PMM2):c.447+7C>G
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.524-4del
NM_000303.3(PMM2):c.524-6C>T
NM_000303.3(PMM2):c.527G>A (p.Gly176Asp) rs940938678
NM_000303.3(PMM2):c.563A>G (p.Asp188Gly) rs80338704
NM_000303.3(PMM2):c.573C>T (p.Tyr191=)
NM_000303.3(PMM2):c.597C>T (p.Asp199=) rs376412367
NM_000303.3(PMM2):c.61C>T (p.Arg21Trp) rs758340382
NM_000303.3(PMM2):c.623G>C (p.Gly208Ala) rs398123309
NM_000303.3(PMM2):c.634A>G (p.Met212Val) rs3743808
NM_000303.3(PMM2):c.639+10G>A
NM_000303.3(PMM2):c.647A>G (p.Asn216Ser) rs78290141
NM_000303.3(PMM2):c.647A>T (p.Asn216Ile) rs78290141
NM_000303.3(PMM2):c.652C>G (p.His218Asp) rs398123310
NM_000303.3(PMM2):c.657G>C (p.Glu219Asp) rs144040842
NM_000303.3(PMM2):c.66+13_66+20del
NM_000303.3(PMM2):c.66+5G>A
NM_000303.3(PMM2):c.686A>C (p.Tyr229Ser) rs398123311
NM_000303.3(PMM2):c.691G>A (p.Val231Met) rs80338707
NM_000303.3(PMM2):c.693G>A (p.Val231=) rs761946981
NM_000303.3(PMM2):c.699G>A (p.Ala233=)
NM_000303.3(PMM2):c.710C>G (p.Thr237Arg) rs80338708
NM_000303.3(PMM2):c.710C>T (p.Thr237Met) rs80338708
NM_000303.3(PMM2):c.712C>T (p.Arg238Cys)
NM_000303.3(PMM2):c.713G>A (p.Arg238His) rs151319324
NM_000303.3(PMM2):c.722G>C (p.Cys241Ser) rs80338709
NM_000303.3(PMM2):c.90C>G (p.Asp30Glu) rs201556985
NM_000303.3(PMM2):c.91T>C (p.Phe31Leu) rs749720760
NM_000303.3(PMM2):c.93C>T (p.Phe31=) rs61730638
NM_000303.3(PMM2):c.95_96delinsGC (p.Leu32Arg) rs398123312

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