ClinVar Miner

List of variants in gene PMM2

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Gene type:
ClinVar version:
Total variants: 215
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HGVS dbSNP
GRCh37/hg19 16p13.2(chr16:8903059-8933005)x1
NC_000016.9:g.(?_8891730)_(8906973_?)del
NC_000016.9:g.(?_8898599)_(8906983_?)del
NC_000016.9:g.(?_8904926)_(8926102_?)del
NC_000016.9:g.(?_8941558)_(8941692_?)del
NM_000303.2(PMM2):c.*1516C>G rs74008088
NM_000303.2(PMM2):c.-70G>A rs563744399
NM_000303.2(PMM2):c.451_454delGAAA (p.Glu151Ilefs) rs1274794195
NM_000303.3(PMM2):c.*1032C>A rs79686490
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.*1259C>G rs78698557
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.*136A>C rs2075827
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.*175G>A rs2072688
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.*252C>A rs2075828
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.*2G>A rs773232556
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.*534G>A rs2447929
NM_000303.3(PMM2):c.*53G>C rs762640350
NM_000303.3(PMM2):c.*560A>G rs2447928
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.*791G>C rs2437722
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.*96G>C rs11554040
NM_000303.3(PMM2):c.*972C>T rs746081212
NM_000303.3(PMM2):c.*994A>T rs113234190
NM_000303.3(PMM2):c.*997A>G rs1056898
NM_000303.3(PMM2):c.-15C>G rs202199014
NM_000303.3(PMM2):c.-167G>T
NM_000303.3(PMM2):c.-34C>T rs751782324
NM_000303.3(PMM2):c.-35A>T rs766596446
NM_000303.3(PMM2):c.104T>A (p.Leu35Ter) rs1555448899
NM_000303.3(PMM2):c.109C>T (p.Gln37Ter) rs764353860
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.127G>A (p.Val43Met) rs376754460
NM_000303.3(PMM2):c.131T>C (p.Val44Ala) rs104894534
NM_000303.3(PMM2):c.157C>T (p.Gln53Ter) rs1057520708
NM_000303.3(PMM2):c.178+2T>G rs1555448922
NM_000303.3(PMM2):c.178G>T (p.Val60Leu) rs759513930
NM_000303.3(PMM2):c.179-15del rs145496357
NM_000303.3(PMM2):c.179-15dup rs145496357
NM_000303.3(PMM2):c.179-1G>T rs1166138838
NM_000303.3(PMM2):c.189del (p.Lys63fs) rs1057516815
NM_000303.3(PMM2):c.190del (p.Tyr64fs) rs1339004837
NM_000303.3(PMM2):c.193G>T (p.Asp65Tyr) rs104894527
NM_000303.3(PMM2):c.1A>G (p.Met1Val) rs786204591
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.24del (p.Cys9fs) rs768021123
NM_000303.3(PMM2):c.255+1G>A rs1060499598
NM_000303.3(PMM2):c.255+2T>C rs139716296
NM_000303.3(PMM2):c.256-1G>C
NM_000303.3(PMM2):c.256-2A>G rs1057516372
NM_000303.3(PMM2):c.26G>A (p.Cys9Tyr) rs104894532
NM_000303.3(PMM2):c.27C>A (p.Cys9Ter) rs1057516943
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.310C>G (p.Leu104Val) rs770458492
NM_000303.3(PMM2):c.317A>T (p.Tyr106Phe) rs387906824
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.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.341_343AGA[1] (p.Lys115del) rs1555449316
NM_000303.3(PMM2):c.345dup (p.Arg116fs) rs1057516757
NM_000303.3(PMM2):c.347+1G>A rs1057517117
NM_000303.3(PMM2):c.347+40G>A rs142123453
NM_000303.3(PMM2):c.348-19G>A rs1057523353
NM_000303.3(PMM2):c.348-1G>C rs1555449604
NM_000303.3(PMM2):c.348-2A>C rs1555449603
NM_000303.3(PMM2):c.348-58_348-56dup rs1799772
NM_000303.3(PMM2):c.348-8A>G rs186061775
NM_000303.3(PMM2):c.349G>C (p.Gly117Arg) rs104894530
NM_000303.3(PMM2):c.352A>G (p.Thr118Ala) rs886043289
NM_000303.3(PMM2):c.355T>C (p.Phe119Leu) rs1057517110
NM_000303.3(PMM2):c.357C>A (p.Phe119Leu) rs80338701
NM_000303.3(PMM2):c.359T>C (p.Ile120Thr) rs368582085
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.392del (p.Pro131fs) rs1555449607
NM_000303.3(PMM2):c.395T>C (p.Ile132Thr) rs80338702
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.414del (p.Glu139fs) rs755008774
NM_000303.3(PMM2):c.415G>A (p.Glu139Lys) rs80338703
NM_000303.3(PMM2):c.421C>T (p.Arg141Cys) rs746610168
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.432C>A (p.Phe144Leu) rs1555449617
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.442G>A (p.Asp148Asn) rs148032587
NM_000303.3(PMM2):c.447+19T>C rs11074924
NM_000303.3(PMM2):c.447+22T>A rs137862339
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.44G>C (p.Gly15Ala) rs958073558
NM_000303.3(PMM2):c.454_455del (p.Asn152fs) rs771240150
NM_000303.3(PMM2):c.458T>C (p.Ile153Thr) rs150577656
NM_000303.3(PMM2):c.463C>T (p.Gln155Ter)
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.511dup (p.Thr171fs) rs1057516323
NM_000303.3(PMM2):c.523+3A>G rs774107741
NM_000303.3(PMM2):c.524-2A>G rs1555449780
NM_000303.3(PMM2):c.527G>A (p.Gly176Asp) rs940938678
NM_000303.3(PMM2):c.52A>C (p.Thr18Pro)
NM_000303.3(PMM2):c.53C>G (p.Thr18Ser) rs760265100
NM_000303.3(PMM2):c.545T>A (p.Val182Asp)
NM_000303.3(PMM2):c.548T>C (p.Phe183Ser)
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.55del (p.Ala19fs)
NM_000303.3(PMM2):c.560G>A (p.Trp187Ter) rs1057516886
NM_000303.3(PMM2):c.563A>G (p.Asp188Gly) rs80338704
NM_000303.3(PMM2):c.580C>T (p.Arg194Ter) rs199562225
NM_000303.3(PMM2):c.58C>T (p.Pro20Ser)
NM_000303.3(PMM2):c.590A>C (p.Glu197Ala) rs34258285
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.620T>C (p.Phe207Ser) rs532870929
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+19G>C rs145473288
NM_000303.3(PMM2):c.639+1G>A rs1057517183
NM_000303.3(PMM2):c.640-12G>A rs375325546
NM_000303.3(PMM2):c.640-13C>T rs372181885
NM_000303.3(PMM2):c.640-15479C>T rs1258107584
NM_000303.3(PMM2):c.640-25_640-22dup rs1555453228
NM_000303.3(PMM2):c.640-9T>G rs370160676
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.647A>T (p.Asn216Ile) rs78290141
NM_000303.3(PMM2):c.651C>A (p.Asp217Glu) rs752614554
NM_000303.3(PMM2):c.652C>G (p.His218Asp) rs398123310
NM_000303.3(PMM2):c.653A>T (p.His218Leu) rs80338705
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+1G>T rs937726878
NM_000303.3(PMM2):c.66+1del rs1555495965
NM_000303.3(PMM2):c.66+5G>A
NM_000303.3(PMM2):c.669C>G (p.Asp223Glu) rs104894531
NM_000303.3(PMM2):c.67-2A>T rs1555448897
NM_000303.3(PMM2):c.677C>G (p.Thr226Ser) rs80338706
NM_000303.3(PMM2):c.682G>T (p.Gly228Cys)
NM_000303.3(PMM2):c.686A>C (p.Tyr229Ser) rs398123311
NM_000303.3(PMM2):c.687C>G (p.Tyr229Ter)
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.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
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.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
NM_000303.3(PMM2):c.95T>G (p.Leu32Arg) rs104894533
NM_000303.3(PMM2):c.95_96delinsGC (p.Leu32Arg) rs398123312
PMM2, 28-KB DEL

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