ClinVar Miner

List of variants reported as likely pathogenic for PMM2-congenital disorder of glycosylation

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ClinVar version:
Total variants: 179
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HGVS dbSNP gnomAD frequency
NM_000303.3(PMM2):c.422G>A (p.Arg141His) rs28936415 0.00338
NM_000303.3(PMM2):c.470T>C (p.Phe157Ser) rs190521996 0.00042
NM_000303.3(PMM2):c.713G>A (p.Arg238His) rs151319324 0.00035
NM_001383.6(DPH1):c.359T>C (p.Leu120Pro) rs200530055 0.00029
NM_000303.3(PMM2):c.368G>A (p.Arg123Gln) rs141498002 0.00017
NM_000303.3(PMM2):c.109C>T (p.Gln37Ter) rs764353860 0.00014
NM_000303.3(PMM2):c.442G>A (p.Asp148Asn) rs148032587 0.00014
NM_000303.3(PMM2):c.359T>C (p.Ile120Thr) rs368582085 0.00006
NM_000303.3(PMM2):c.430T>C (p.Phe144Leu) rs150719105 0.00006
NM_000303.3(PMM2):c.91T>C (p.Phe31Leu) rs749720760 0.00005
NM_000303.3(PMM2):c.24del (p.Cys9fs) rs768021123 0.00004
NM_000303.3(PMM2):c.421C>T (p.Arg141Cys) rs746610168 0.00004
NM_000303.3(PMM2):c.640-15479C>T rs1258107584 0.00004
NM_000303.3(PMM2):c.640-9T>G rs370160676 0.00003
NM_000303.3(PMM2):c.104T>A (p.Leu35Ter) rs1555448899 0.00002
NM_000303.3(PMM2):c.178+1G>A rs935962174 0.00002
NM_000303.3(PMM2):c.255+1G>A rs1060499598 0.00002
NM_000303.3(PMM2):c.484C>T (p.Arg162Trp) rs104894526 0.00002
NM_000303.3(PMM2):c.580C>T (p.Arg194Ter) rs199562225 0.00002
NM_000303.3(PMM2):c.124G>A (p.Gly42Arg) rs755402538 0.00001
NM_000303.3(PMM2):c.178G>T (p.Val60Leu) rs759513930 0.00001
NM_000303.3(PMM2):c.255G>A (p.Gln85=) rs115344041 0.00001
NM_000303.3(PMM2):c.28C>T (p.Leu10Phe) rs1215262242 0.00001
NM_000303.3(PMM2):c.323C>T (p.Ala108Val) rs200503569 0.00001
NM_000303.3(PMM2):c.43G>A (p.Gly15Arg) rs767831048 0.00001
NM_000303.3(PMM2):c.458T>C (p.Ile153Thr) rs150577656 0.00001
NM_000303.3(PMM2):c.52A>C (p.Thr18Pro) rs757040733 0.00001
NM_000303.3(PMM2):c.53C>G (p.Thr18Ser) rs760265100 0.00001
NM_000303.3(PMM2):c.560G>A (p.Trp187Ter) rs1057516886 0.00001
NM_000303.3(PMM2):c.563A>G (p.Asp188Gly) rs80338704 0.00001
NM_000303.3(PMM2):c.58C>T (p.Pro20Ser) rs949271895 0.00001
NM_000303.3(PMM2):c.620T>C (p.Phe207Ser) rs532870929 0.00001
NM_000303.3(PMM2):c.623G>C (p.Gly208Ala) rs398123309 0.00001
NM_000303.3(PMM2):c.647A>G (p.Asn216Ser) rs78290141 0.00001
NM_000303.3(PMM2):c.66+1G>T rs937726878 0.00001
NM_000303.3(PMM2):c.97C>T (p.Gln33Ter) rs149530060 0.00001
NC_000016.10:g.(?_8847701)_(8847845_?)del
NC_000016.9:g.(8900265_8904935)_(8943195_?)del
NC_000016.9:g.(8906964_8941580)_(8943195_?)del
NC_000016.9:g.(?_8895646)_(8895777_?)dup
NC_000016.9:g.(?_8898599)_(8898710_?)dup
NC_000016.9:g.(?_8904916)_(8906983_?)dup
NM_000303.3(PMM2):c.127G>A (p.Val43Met) rs376754460
NM_000303.3(PMM2):c.130G>A (p.Val44Ile) rs2060618497
NM_000303.3(PMM2):c.130G>C (p.Val44Leu)
NM_000303.3(PMM2):c.131T>C (p.Val44Ala) rs104894534
NM_000303.3(PMM2):c.140C>T (p.Ser47Leu)
NM_000303.3(PMM2):c.157C>T (p.Gln53Ter) rs1057520708
NM_000303.3(PMM2):c.16_22del (p.Pro6fs) rs2141014102
NM_000303.3(PMM2):c.173del (p.Asn58fs)
NM_000303.3(PMM2):c.178+2T>G rs1555448922
NM_000303.3(PMM2):c.179-1G>C
NM_000303.3(PMM2):c.179-1G>T rs1166138838
NM_000303.3(PMM2):c.179-25A>G
NM_000303.3(PMM2):c.179-2A>G rs2141019036
NM_000303.3(PMM2):c.189del (p.Lys63fs) rs1057516815
NM_000303.3(PMM2):c.190del (p.Tyr64fs) rs1339004837
NM_000303.3(PMM2):c.192C>G (p.Tyr64Ter)
NM_000303.3(PMM2):c.193G>A (p.Asp65Asn)
NM_000303.3(PMM2):c.194A>G (p.Asp65Gly)
NM_000303.3(PMM2):c.1A>G (p.Met1Val) rs786204591
NM_000303.3(PMM2):c.201_202del (p.Phe68fs) rs1343161886
NM_000303.3(PMM2):c.205C>A (p.Pro69Thr)
NM_000303.3(PMM2):c.205C>T (p.Pro69Ser) rs769648248
NM_000303.3(PMM2):c.206C>T (p.Pro69Leu)
NM_000303.3(PMM2):c.228C>A (p.Tyr76Ter)
NM_000303.3(PMM2):c.250A>T (p.Arg84Ter)
NM_000303.3(PMM2):c.253C>T (p.Gln85Ter)
NM_000303.3(PMM2):c.256-1G>A
NM_000303.3(PMM2):c.256-2A>G rs1057516372
NM_000303.3(PMM2):c.26G>A (p.Cys9Tyr) rs104894532
NM_000303.3(PMM2):c.26G>T (p.Cys9Phe)
NM_000303.3(PMM2):c.27C>A (p.Cys9Ter) rs1057516943
NM_000303.3(PMM2):c.28del (p.Leu10fs)
NM_000303.3(PMM2):c.295_296del (p.Leu99fs)
NM_000303.3(PMM2):c.296T>A (p.Leu99Ter)
NM_000303.3(PMM2):c.309T>A (p.Cys103Ter)
NM_000303.3(PMM2):c.317A>G (p.Tyr106Cys)
NM_000303.3(PMM2):c.317A>T (p.Tyr106Phe) rs387906824
NM_000303.3(PMM2):c.324del (p.Ile110fs) rs1555449314
NM_000303.3(PMM2):c.325A>T (p.Lys109Ter)
NM_000303.3(PMM2):c.328_329insGGGAA (p.Ile110fs)
NM_000303.3(PMM2):c.337C>A (p.Pro113Thr) rs765433263
NM_000303.3(PMM2):c.340A>T (p.Lys114Ter)
NM_000303.3(PMM2):c.345dup (p.Arg116fs) rs1057516757
NM_000303.3(PMM2):c.347+1G>A rs1057517117
NM_000303.3(PMM2):c.347+2T>C
NM_000303.3(PMM2):c.348-1G>C rs1555449604
NM_000303.3(PMM2):c.348-2A>C rs1555449603
NM_000303.3(PMM2):c.348-2A>G
NM_000303.3(PMM2):c.348-2del rs2141022949
NM_000303.3(PMM2):c.349G>C (p.Gly117Arg) rs104894530
NM_000303.3(PMM2):c.349G>T (p.Gly117Cys) rs104894530
NM_000303.3(PMM2):c.353C>G (p.Thr118Ser)
NM_000303.3(PMM2):c.356T>C (p.Phe119Ser)
NM_000303.3(PMM2):c.360T>G (p.Ile120Met)
NM_000303.3(PMM2):c.365del (p.Phe122fs)
NM_000303.3(PMM2):c.385G>A (p.Val129Met) rs104894525
NM_000303.3(PMM2):c.386T>C (p.Val129Ala)
NM_000303.3(PMM2):c.391C>G (p.Pro131Ala)
NM_000303.3(PMM2):c.392del (p.Pro131fs) rs1555449607
NM_000303.3(PMM2):c.395T>A (p.Ile132Asn)
NM_000303.3(PMM2):c.414del (p.Glu139fs) rs755008774
NM_000303.3(PMM2):c.415G>A (p.Glu139Lys) rs80338703
NM_000303.3(PMM2):c.430T>G (p.Phe144Val)
NM_000303.3(PMM2):c.431T>G (p.Phe144Cys) rs2141023054
NM_000303.3(PMM2):c.432C>A (p.Phe144Leu) rs1555449617
NM_000303.3(PMM2):c.442G>T (p.Asp148Tyr)
NM_000303.3(PMM2):c.447+2T>A rs1567160054
NM_000303.3(PMM2):c.448-1G>A rs762937296
NM_000303.3(PMM2):c.448-1_448del rs1414007551
NM_000303.3(PMM2):c.448-2A>G rs2141023331
NM_000303.3(PMM2):c.448-2A>T rs2141023331
NM_000303.3(PMM2):c.44G>C (p.Gly15Ala) rs958073558
NM_000303.3(PMM2):c.451_454del rs1274794195
NM_000303.3(PMM2):c.454_455del (p.Asn152fs) rs771240150
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.459A>G (p.Ile153Met)
NM_000303.3(PMM2):c.470T>G (p.Phe157Cys)
NM_000303.3(PMM2):c.485G>C (p.Arg162Pro)
NM_000303.3(PMM2):c.488_491del (p.Lys163fs) rs2060678732
NM_000303.3(PMM2):c.511dup (p.Thr171fs) rs1057516323
NM_000303.3(PMM2):c.523G>C (p.Gly175Arg)
NM_000303.3(PMM2):c.523G>T (p.Gly175Ter)
NM_000303.3(PMM2):c.524-2A>G rs1555449780
NM_000303.3(PMM2):c.527G>T (p.Gly176Val) rs940938678
NM_000303.3(PMM2):c.52A>G (p.Thr18Ala)
NM_000303.3(PMM2):c.550C>A (p.Pro184Thr) rs1555449795
NM_000303.3(PMM2):c.55del (p.Ala19fs) rs1596481889
NM_000303.3(PMM2):c.561G>A (p.Trp187Ter) rs201855351
NM_000303.3(PMM2):c.562G>T (p.Asp188Tyr) rs2141024241
NM_000303.3(PMM2):c.564C>A (p.Asp188Glu)
NM_000303.3(PMM2):c.566_571delinsGTGGATTTCC (p.Lys189fs) rs2060686245
NM_000303.3(PMM2):c.573C>A (p.Tyr191Ter) rs201440361
NM_000303.3(PMM2):c.574T>A (p.Cys192Ser)
NM_000303.3(PMM2):c.574T>C (p.Cys192Arg)
NM_000303.3(PMM2):c.577C>G (p.Leu193Val)
NM_000303.3(PMM2):c.584_585del (p.His195fs)
NM_000303.3(PMM2):c.599_603del (p.Gly200fs)
NM_000303.3(PMM2):c.603T>G (p.Tyr201Ter) rs1202400777
NM_000303.3(PMM2):c.617del (p.Phe206fs) rs1555449810
NM_000303.3(PMM2):c.61C>G (p.Arg21Gly) rs758340382
NM_000303.3(PMM2):c.61C>T (p.Arg21Trp) rs758340382
NM_000303.3(PMM2):c.61dup (p.Arg21fs)
NM_000303.3(PMM2):c.639+1G>A rs1057517183
NM_000303.3(PMM2):c.640-23A>G rs981372486
NM_000303.3(PMM2):c.640G>C (p.Gly214Arg)
NM_000303.3(PMM2):c.646A>G (p.Asn216Asp)
NM_000303.3(PMM2):c.647A>T (p.Asn216Ile) rs78290141
NM_000303.3(PMM2):c.66+1del rs1555495965
NM_000303.3(PMM2):c.669C>A (p.Asp223Glu)
NM_000303.3(PMM2):c.66_66+1delinsTA
NM_000303.3(PMM2):c.67-1G>C
NM_000303.3(PMM2):c.67-2A>T rs1555448897
NM_000303.3(PMM2):c.677C>G (p.Thr226Ser) rs80338706
NM_000303.3(PMM2):c.677C>T (p.Thr226Ile)
NM_000303.3(PMM2):c.682G>A (p.Gly228Ser)
NM_000303.3(PMM2):c.682G>C (p.Gly228Arg)
NM_000303.3(PMM2):c.682G>T (p.Gly228Cys) rs558826439
NM_000303.3(PMM2):c.686A>C (p.Tyr229Ser) rs398123311
NM_000303.3(PMM2):c.687C>A (p.Tyr229Ter)
NM_000303.3(PMM2):c.687C>G (p.Tyr229Ter) rs148759949
NM_000303.3(PMM2):c.691G>C (p.Val231Leu)
NM_000303.3(PMM2):c.691G>T (p.Val231Leu)
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>C (p.Arg238Pro) rs151319324
NM_000303.3(PMM2):c.716G>C (p.Arg239Thr)
NM_000303.3(PMM2):c.717G>C (p.Arg239Ser)
NM_000303.3(PMM2):c.717G>T (p.Arg239Ser)
NM_000303.3(PMM2):c.721T>C (p.Cys241Arg)
NM_000303.3(PMM2):c.723T>G (p.Cys241Trp)
NM_000303.3(PMM2):c.728T>C (p.Leu243Pro) rs2060937980
NM_000303.3(PMM2):c.72del (p.Thr25fs) rs2060617981
NM_000303.3(PMM2):c.76A>T (p.Lys26Ter)
NM_000303.3(PMM2):c.79G>T (p.Glu27Ter)
NM_000303.3(PMM2):c.94C>G (p.Leu32Val)

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