ClinVar Miner

List of variants in gene PMM2 reported as uncertain significance

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Gene type:
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Total variants: 100
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HGVS dbSNP
GRCh37/hg19 16p13.2(chr16:8903059-8933005)x1
NM_000303.2(PMM2):c.-70G>A rs563744399
NM_000303.3(PMM2):c.*1032C>G rs79686490
NM_000303.3(PMM2):c.*1063C>T rs539046271
NM_000303.3(PMM2):c.*1074T>C rs147284732
NM_000303.3(PMM2):c.*1086G>A rs567957339
NM_000303.3(PMM2):c.*10G>A rs200930493
NM_000303.3(PMM2):c.*1103C>T rs886052470
NM_000303.3(PMM2):c.*1136T>C rs574947575
NM_000303.3(PMM2):c.*1195G>T rs186712555
NM_000303.3(PMM2):c.*1219C>T rs546209036
NM_000303.3(PMM2):c.*1224C>A rs74008087
NM_000303.3(PMM2):c.*1260C>T rs886052471
NM_000303.3(PMM2):c.*1297C>A rs183853029
NM_000303.3(PMM2):c.*1297C>T rs183853029
NM_000303.3(PMM2):c.*1301del rs142140685
NM_000303.3(PMM2):c.*1348A>G rs188346349
NM_000303.3(PMM2):c.*1360C>T rs72766381
NM_000303.3(PMM2):c.*1375G>T rs886052472
NM_000303.3(PMM2):c.*137G>A rs886052459
NM_000303.3(PMM2):c.*1434C>A rs546341789
NM_000303.3(PMM2):c.*17G>A rs9936097
NM_000303.3(PMM2):c.*26C>T rs138528126
NM_000303.3(PMM2):c.*275A>T rs553522916
NM_000303.3(PMM2):c.*276C>G rs573179742
NM_000303.3(PMM2):c.*365G>T rs886052460
NM_000303.3(PMM2):c.*368C>G rs72766379
NM_000303.3(PMM2):c.*383C>T rs886052461
NM_000303.3(PMM2):c.*410A>G rs77027373
NM_000303.3(PMM2):c.*423G>C rs886052462
NM_000303.3(PMM2):c.*476C>T rs886052463
NM_000303.3(PMM2):c.*492C>G rs548732618
NM_000303.3(PMM2):c.*52C>T rs565165106
NM_000303.3(PMM2):c.*53G>C rs762640350
NM_000303.3(PMM2):c.*588G>A rs886052464
NM_000303.3(PMM2):c.*658C>T rs549756162
NM_000303.3(PMM2):c.*674G>A rs886052465
NM_000303.3(PMM2):c.*733C>T rs886052466
NM_000303.3(PMM2):c.*81C>T rs886052458
NM_000303.3(PMM2):c.*833G>A rs144056509
NM_000303.3(PMM2):c.*888A>G rs886052467
NM_000303.3(PMM2):c.*891C>T rs886052468
NM_000303.3(PMM2):c.*959C>G rs886052469
NM_000303.3(PMM2):c.*972C>T rs746081212
NM_000303.3(PMM2):c.*994A>T rs113234190
NM_000303.3(PMM2):c.-34C>T rs751782324
NM_000303.3(PMM2):c.110A>T (p.Gln37Leu) rs2304472
NM_000303.3(PMM2):c.124G>A (p.Gly42Arg) rs755402538
NM_000303.3(PMM2):c.178G>T (p.Val60Leu) rs759513930
NM_000303.3(PMM2):c.179-15del rs145496357
NM_000303.3(PMM2):c.200T>G (p.Val67Gly) rs751986971
NM_000303.3(PMM2):c.205C>T (p.Pro69Ser) rs769648248
NM_000303.3(PMM2):c.284del (p.Leu95fs) rs757865122
NM_000303.3(PMM2):c.305A>G (p.Tyr102Cys) rs1187245939
NM_000303.3(PMM2):c.306C>T (p.Tyr102=)
NM_000303.3(PMM2):c.317A>T (p.Tyr106Phe) rs387906824
NM_000303.3(PMM2):c.324G>A (p.Ala108=) rs62031146
NM_000303.3(PMM2):c.337C>T (p.Pro113Ser) rs765433263
NM_000303.3(PMM2):c.339G>A (p.Pro113=) rs149849259
NM_000303.3(PMM2):c.341_343AGA[1] (p.Lys115del) rs1555449316
NM_000303.3(PMM2):c.352A>G (p.Thr118Ala) rs886043289
NM_000303.3(PMM2):c.359T>C (p.Ile120Thr) rs368582085
NM_000303.3(PMM2):c.368G>A (p.Arg123Gln) rs141498002
NM_000303.3(PMM2):c.389C>G (p.Ser130Cys) rs886044305
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.426T>G (p.Ile142Met) rs781610241
NM_000303.3(PMM2):c.43G>A (p.Gly15Arg) rs767831048
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.447+4C>T rs537238935
NM_000303.3(PMM2):c.44G>C (p.Gly15Ala) rs958073558
NM_000303.3(PMM2):c.523+3A>G rs774107741
NM_000303.3(PMM2):c.52A>C (p.Thr18Pro)
NM_000303.3(PMM2):c.545T>A (p.Val182Asp)
NM_000303.3(PMM2):c.550C>A (p.Pro184Thr) rs1555449795
NM_000303.3(PMM2):c.552T>C (p.Pro184=) rs560182098
NM_000303.3(PMM2):c.554A>G (p.Asp185Gly) rs1386173214
NM_000303.3(PMM2):c.593A>C (p.Asn198Thr) rs773420873
NM_000303.3(PMM2):c.597C>T (p.Asp199=) rs376412367
NM_000303.3(PMM2):c.617del (p.Phe206fs) rs1555449810
NM_000303.3(PMM2):c.618C>A (p.Phe206Leu) rs1460691341
NM_000303.3(PMM2):c.61C>T (p.Arg21Trp) rs758340382
NM_000303.3(PMM2):c.634A>G (p.Met212Val) rs3743808
NM_000303.3(PMM2):c.640-12G>A rs375325546
NM_000303.3(PMM2):c.640G>A (p.Gly214Ser) rs1555453238
NM_000303.3(PMM2):c.647A>G (p.Asn216Ser) rs78290141
NM_000303.3(PMM2):c.651C>A (p.Asp217Glu) rs752614554
NM_000303.3(PMM2):c.653dup (p.His218fs) rs1555453241
NM_000303.3(PMM2):c.657G>C (p.Glu219Asp) rs144040842
NM_000303.3(PMM2):c.66+5G>A
NM_000303.3(PMM2):c.686A>C (p.Tyr229Ser) rs398123311
NM_000303.3(PMM2):c.693G>A (p.Val231=) rs761946981
NM_000303.3(PMM2):c.703G>T (p.Glu235Ter) rs763091085
NM_000303.3(PMM2):c.713G>A (p.Arg238His) rs151319324
NM_000303.3(PMM2):c.737_739del (p.Ser246del) rs764817746
NM_000303.3(PMM2):c.739T>C (p.Ter247Gln) rs1555453271
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

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