ClinVar Miner

List of variants reported as uncertain significance for PMM2-congenital disorder of glycosylation

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 215
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HGVS dbSNP gnomAD frequency
NM_000303.3(PMM2):c.*368C>G rs72766379 0.00580
NM_000303.3(PMM2):c.*492C>G rs548732618 0.00352
NM_000303.3(PMM2):c.*1074T>C rs147284732 0.00129
NM_000303.3(PMM2):c.*410A>G rs77027373 0.00102
NM_000303.3(PMM2):c.*833G>A rs144056509 0.00086
NM_000303.3(PMM2):c.*896G>A rs78930414 0.00051
NM_000303.3(PMM2):c.657G>C (p.Glu219Asp) rs144040842 0.00039
NM_000303.3(PMM2):c.713G>A (p.Arg238His) rs151319324 0.00035
NM_000303.3(PMM2):c.*1434C>A rs546341789 0.00029
NM_000303.3(PMM2):c.*477G>A rs529074146 0.00029
NM_000303.3(PMM2):c.*242C>T rs866278750 0.00020
NM_000303.3(PMM2):c.*52C>T rs565165106 0.00019
NM_000303.3(PMM2):c.*733C>T rs886052466 0.00019
NM_000303.3(PMM2):c.90C>G (p.Asp30Glu) rs201556985 0.00019
NM_000303.3(PMM2):c.*1195G>T rs186712555 0.00017
NM_000303.3(PMM2):c.*10G>A rs200930493 0.00015
NM_000303.3(PMM2):c.634A>G (p.Met212Val) rs3743808 0.00014
NM_000303.3(PMM2):c.149A>T (p.Glu50Val) rs182336960 0.00012
NM_000303.3(PMM2):c.*1136T>C rs574947575 0.00010
NM_000303.3(PMM2):c.*1348A>G rs188346349 0.00010
NM_000303.3(PMM2):c.441C>T (p.Leu147=) rs146990448 0.00010
NM_000303.3(PMM2):c.66+5G>A rs375808631 0.00010
NM_000303.3(PMM2):c.*1063C>T rs539046271 0.00006
NM_000303.3(PMM2):c.*1086G>A rs567957339 0.00006
NM_000303.3(PMM2):c.*246C>T rs756637944 0.00006
NM_000303.3(PMM2):c.*476C>T rs886052463 0.00006
NM_000303.3(PMM2):c.256-13T>G rs62031145 0.00006
NM_000303.3(PMM2):c.359T>C (p.Ile120Thr) rs368582085 0.00006
NM_000303.3(PMM2):c.426T>G (p.Ile142Met) rs781610241 0.00006
NM_000303.3(PMM2):c.436G>A (p.Glu146Lys) rs142420230 0.00006
NM_000303.3(PMM2):c.487A>C (p.Lys163Gln) rs138383066 0.00006
NM_000303.3(PMM2):c.640-12G>A rs375325546 0.00006
NM_000303.3(PMM2):c.*205C>T rs556232441 0.00005
NM_000303.3(PMM2):c.*26C>T rs138528126 0.00005
NM_000303.3(PMM2):c.524-5G>A rs373584132 0.00005
NM_000303.3(PMM2):c.586G>A (p.Val196Met) rs547216044 0.00005
NM_000303.3(PMM2):c.738C>G (p.Ser246=) rs373888957 0.00005
NM_000303.3(PMM2):c.91T>C (p.Phe31Leu) rs749720760 0.00005
NM_000303.3(PMM2):c.*365G>T rs886052460 0.00004
NM_000303.3(PMM2):c.*588G>A rs886052464 0.00004
NM_000303.3(PMM2):c.-34C>T rs751782324 0.00004
NM_000303.3(PMM2):c.447+4C>T rs537238935 0.00004
NM_000303.3(PMM2):c.581G>A (p.Arg194Gln) rs371629121 0.00004
NM_000303.3(PMM2):c.639+10G>A rs200593954 0.00004
NM_000303.3(PMM2):c.*1297C>T rs183853029 0.00003
NM_000303.3(PMM2):c.*383C>T rs886052461 0.00003
NM_000303.3(PMM2):c.*674G>A rs886052465 0.00003
NM_000303.3(PMM2):c.*695C>T rs767981809 0.00003
NM_000303.3(PMM2):c.*81C>T rs886052458 0.00003
NM_000303.3(PMM2):c.*888A>G rs886052467 0.00003
NM_000303.3(PMM2):c.*959C>G rs886052469 0.00003
NM_000303.3(PMM2):c.200T>G (p.Val67Gly) rs751986971 0.00003
NM_000303.3(PMM2):c.597C>T (p.Asp199=) rs376412367 0.00003
NM_000303.3(PMM2):c.712C>T (p.Arg238Cys) rs142459706 0.00003
NM_000303.3(PMM2):c.*1103C>T rs886052470 0.00002
NM_000303.3(PMM2):c.*1138T>G rs999681403 0.00002
NM_000303.3(PMM2):c.*972C>T rs746081212 0.00002
NM_000303.3(PMM2):c.154G>C (p.Val52Leu) rs148608841 0.00002
NM_000303.3(PMM2):c.447+5G>A rs367852554 0.00002
NM_000303.3(PMM2):c.680T>C (p.Met227Thr) rs772410793 0.00002
NM_000303.3(PMM2):c.69A>G (p.Lys23=) rs1189907173 0.00002
NM_000303.3(PMM2):c.*1260C>T rs886052471 0.00001
NM_000303.3(PMM2):c.*1345T>C rs144652247 0.00001
NM_000303.3(PMM2):c.*658C>T rs549756162 0.00001
NM_000303.3(PMM2):c.*891C>T rs886052468 0.00001
NM_000303.3(PMM2):c.124G>A (p.Gly42Arg) rs755402538 0.00001
NM_000303.3(PMM2):c.126A>G (p.Gly42=) rs766984518 0.00001
NM_000303.3(PMM2):c.127G>C (p.Val43Leu) rs376754460 0.00001
NM_000303.3(PMM2):c.14G>A (p.Gly5Asp) rs773813007 0.00001
NM_000303.3(PMM2):c.178+12G>A rs2060618999 0.00001
NM_000303.3(PMM2):c.178G>T (p.Val60Leu) rs759513930 0.00001
NM_000303.3(PMM2):c.252A>T (p.Arg84Ser) rs375826588 0.00001
NM_000303.3(PMM2):c.255+5G>T rs370480677 0.00001
NM_000303.3(PMM2):c.255G>A (p.Gln85=) rs115344041 0.00001
NM_000303.3(PMM2):c.284del (p.Leu95fs) rs757865122 0.00001
NM_000303.3(PMM2):c.28C>T (p.Leu10Phe) rs1215262242 0.00001
NM_000303.3(PMM2):c.305A>G (p.Tyr102Cys) rs1187245939 0.00001
NM_000303.3(PMM2):c.334C>G (p.Leu112Val) rs757323701 0.00001
NM_000303.3(PMM2):c.401G>A (p.Arg134Lys) rs1159211374 0.00001
NM_000303.3(PMM2):c.43G>A (p.Gly15Arg) rs767831048 0.00001
NM_000303.3(PMM2):c.523+3A>G rs774107741 0.00001
NM_000303.3(PMM2):c.52A>C (p.Thr18Pro) rs757040733 0.00001
NM_000303.3(PMM2):c.531G>C (p.Gln177His) rs771162235 0.00001
NM_000303.3(PMM2):c.545T>A (p.Val182Asp) rs774532663 0.00001
NM_000303.3(PMM2):c.559T>C (p.Trp187Arg) rs781346472 0.00001
NM_000303.3(PMM2):c.58C>T (p.Pro20Ser) rs949271895 0.00001
NM_000303.3(PMM2):c.593A>C (p.Asn198Thr) rs773420873 0.00001
NM_000303.3(PMM2):c.595G>C (p.Asp199His) rs1281138749 0.00001
NM_000303.3(PMM2):c.645C>T (p.Gly215=) rs765599626 0.00001
NM_000303.3(PMM2):c.647A>G (p.Asn216Ser) rs78290141 0.00001
NM_000303.3(PMM2):c.652C>A (p.His218Asn) rs398123310 0.00001
NC_000016.10:g.(?_8750402)_(8801930_?)dup
NC_000016.10:g.(?_8764049)_(8811733_?)dup
NC_000016.10:g.(?_8768173)_(8832245_?)dup
NC_000016.10:g.(?_8772760)_(8847845_?)dup
NC_000016.10:g.(?_8781289)_(8847845_?)dup
NC_000016.9:g.(?_8839838)_(8900284_?)dup
NC_000016.9:g.(?_8839838)_(8905055_?)dup
NC_000016.9:g.(?_8839838)_(8941682_?)dup
NC_000016.9:g.(?_8891573)_(8941682_?)dup
NC_000016.9:g.(?_8891720)_(8900284_?)dup
NC_000016.9:g.(?_8926102)_(8941682_?)dup
NM_000303.3(PMM2):c.*1032C>G rs79686490
NM_000303.3(PMM2):c.*1072A>G rs2060947173
NM_000303.3(PMM2):c.*1142A>T rs760967158
NM_000303.3(PMM2):c.*1218A>G rs557668852
NM_000303.3(PMM2):c.*1297C>A rs183853029
NM_000303.3(PMM2):c.*1312T>C rs905795044
NM_000303.3(PMM2):c.*1352G>C rs750545597
NM_000303.3(PMM2):c.*1375G>T rs886052472
NM_000303.3(PMM2):c.*137G>A rs886052459
NM_000303.3(PMM2):c.*1380A>G rs2060949906
NM_000303.3(PMM2):c.*1424C>T rs552732593
NM_000303.3(PMM2):c.*1440C>G rs147950728
NM_000303.3(PMM2):c.*255A>G rs2060940260
NM_000303.3(PMM2):c.*275A>T rs553522916
NM_000303.3(PMM2):c.*276C>G rs573179742
NM_000303.3(PMM2):c.*421G>T rs1178910267
NM_000303.3(PMM2):c.*458C>T rs1380890616
NM_000303.3(PMM2):c.*53G>C rs762640350
NM_000303.3(PMM2):c.*91C>T
NM_000303.3(PMM2):c.117C>G (p.Ile39Met)
NM_000303.3(PMM2):c.127G>T (p.Val43Leu) rs376754460
NM_000303.3(PMM2):c.129G>A (p.Val43=) rs777608895
NM_000303.3(PMM2):c.137G>A (p.Gly46Glu) rs2141017011
NM_000303.3(PMM2):c.140C>T (p.Ser47Leu)
NM_000303.3(PMM2):c.169G>C (p.Gly57Arg)
NM_000303.3(PMM2):c.178+3A>G
NM_000303.3(PMM2):c.179-15del rs145496357
NM_000303.3(PMM2):c.188A>T (p.Lys63Ile)
NM_000303.3(PMM2):c.191A>C (p.Tyr64Ser)
NM_000303.3(PMM2):c.203T>G (p.Phe68Cys) rs373788015
NM_000303.3(PMM2):c.205C>T (p.Pro69Ser) rs769648248
NM_000303.3(PMM2):c.223G>C (p.Ala75Pro)
NM_000303.3(PMM2):c.235G>C (p.Gly79Arg)
NM_000303.3(PMM2):c.248G>A (p.Cys83Tyr)
NM_000303.3(PMM2):c.261T>G (p.Ile87Met)
NM_000303.3(PMM2):c.264A>C (p.Gln88His)
NM_000303.3(PMM2):c.279G>T (p.Glu93Asp)
NM_000303.3(PMM2):c.28C>G (p.Leu10Val)
NM_000303.3(PMM2):c.317A>T (p.Tyr106Phe) rs387906824
NM_000303.3(PMM2):c.328A>G (p.Ile110Val)
NM_000303.3(PMM2):c.329T>G (p.Ile110Ser) rs2141020030
NM_000303.3(PMM2):c.337C>A (p.Pro113Thr) rs765433263
NM_000303.3(PMM2):c.341AGA[1] (p.Lys115del) rs1555449316
NM_000303.3(PMM2):c.347+15A>C rs751222355
NM_000303.3(PMM2):c.347+3G>A
NM_000303.3(PMM2):c.348-2_348-1insAA
NM_000303.3(PMM2):c.349G>T (p.Gly117Cys) rs104894530
NM_000303.3(PMM2):c.352A>G (p.Thr118Ala) rs886043289
NM_000303.3(PMM2):c.353C>G (p.Thr118Ser)
NM_000303.3(PMM2):c.359T>A (p.Ile120Asn)
NM_000303.3(PMM2):c.363A>T (p.Glu121Asp) rs2141022972
NM_000303.3(PMM2):c.366C>G (p.Phe122Leu)
NM_000303.3(PMM2):c.405C>A (p.Ser135Arg)
NM_000303.3(PMM2):c.40G>A (p.Asp14Asn) rs1473030550
NM_000303.3(PMM2):c.410G>C (p.Ser137Thr) rs2060675203
NM_000303.3(PMM2):c.434A>G (p.Tyr145Cys)
NM_000303.3(PMM2):c.447A>T (p.Lys149Asn)
NM_000303.3(PMM2):c.44G>C (p.Gly15Ala) rs958073558
NM_000303.3(PMM2):c.457A>G (p.Ile153Val) rs1596489094
NM_000303.3(PMM2):c.458T>G (p.Ile153Arg) rs150577656
NM_000303.3(PMM2):c.463C>G (p.Gln155Glu)
NM_000303.3(PMM2):c.472G>A (p.Val158Ile) rs969802549
NM_000303.3(PMM2):c.47C>T (p.Thr16Ile) rs1162452555
NM_000303.3(PMM2):c.485G>A (p.Arg162Gln)
NM_000303.3(PMM2):c.488A>C (p.Lys163Thr)
NM_000303.3(PMM2):c.490G>C (p.Glu164Gln) rs2060678778
NM_000303.3(PMM2):c.4G>A (p.Ala2Thr) rs2141014078
NM_000303.3(PMM2):c.508C>T (p.Leu170Phe) rs183384745
NM_000303.3(PMM2):c.512C>T (p.Thr171Met)
NM_000303.3(PMM2):c.521T>C (p.Ile174Thr)
NM_000303.3(PMM2):c.522A>G (p.Ile174Met)
NM_000303.3(PMM2):c.523+5T>C
NM_000303.3(PMM2):c.527G>A (p.Gly176Asp) rs940938678
NM_000303.3(PMM2):c.534C>G (p.Ile178Met)
NM_000303.3(PMM2):c.539T>C (p.Phe180Ser) rs1293479073
NM_000303.3(PMM2):c.544G>C (p.Val182Leu) rs750862179
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.56C>T (p.Ala19Val) rs750307011
NM_000303.3(PMM2):c.571T>C (p.Tyr191His) rs1267170921
NM_000303.3(PMM2):c.593A>G (p.Asn198Ser) rs773420873
NM_000303.3(PMM2):c.598G>A (p.Gly200Ser)
NM_000303.3(PMM2):c.599G>T (p.Gly200Val)
NM_000303.3(PMM2):c.59C>G (p.Pro20Arg) rs2060588870
NM_000303.3(PMM2):c.59C>T (p.Pro20Leu)
NM_000303.3(PMM2):c.602A>G (p.Tyr201Cys)
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.627C>G (p.Asp209Glu)
NM_000303.3(PMM2):c.631A>G (p.Thr211Ala)
NM_000303.3(PMM2):c.640-13C>A rs372181885
NM_000303.3(PMM2):c.640-16C>G rs2141051377
NM_000303.3(PMM2):c.640G>A (p.Gly214Ser) rs1555453238
NM_000303.3(PMM2):c.651C>A (p.Asp217Glu) rs752614554
NM_000303.3(PMM2):c.653dup (p.His218fs) rs1555453241
NM_000303.3(PMM2):c.660C>G (p.Ile220Met)
NM_000303.3(PMM2):c.67-6A>G
NM_000303.3(PMM2):c.671C>G (p.Pro224Arg) rs778488908
NM_000303.3(PMM2):c.671C>T (p.Pro224Leu)
NM_000303.3(PMM2):c.697G>A (p.Ala233Thr)
NM_000303.3(PMM2):c.701C>T (p.Pro234Leu)
NM_000303.3(PMM2):c.703G>C (p.Glu235Gln)
NM_000303.3(PMM2):c.703G>T (p.Glu235Ter) rs763091085
NM_000303.3(PMM2):c.706G>A (p.Asp236Asn)
NM_000303.3(PMM2):c.708C>G (p.Asp236Glu)
NM_000303.3(PMM2):c.735C>G (p.Phe245Leu)
NM_000303.3(PMM2):c.737C>A (p.Ser246Tyr) rs769177253
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.76A>G (p.Lys26Glu)
NM_000303.3(PMM2):c.93C>T (p.Phe31=) rs61730638

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