ClinVar Miner

List of variants in gene PMM2 reported as likely benign for PMM2-congenital disorder of glycosylation

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 244
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HGVS dbSNP gnomAD frequency
NM_000303.3(PMM2):c.*1360C>T rs72766381 0.03294
NM_000303.3(PMM2):c.590A>C (p.Glu197Ala) rs34258285 0.02088
NM_000303.3(PMM2):c.*534G>A rs2447929 0.01770
NM_000303.3(PMM2):c.*17G>A rs9936097 0.00905
NM_000303.3(PMM2):c.*915T>A rs114954775 0.00441
NM_000303.3(PMM2):c.110A>T (p.Gln37Leu) rs2304472 0.00035
NM_000303.3(PMM2):c.713G>A (p.Arg238His) rs151319324 0.00035
NM_000303.3(PMM2):c.366C>T (p.Phe122=) rs145714866 0.00027
NM_000303.3(PMM2):c.90C>G (p.Asp30Glu) rs201556985 0.00019
NM_000303.3(PMM2):c.634A>G (p.Met212Val) rs3743808 0.00014
NM_000303.3(PMM2):c.513G>A (p.Thr171=) rs371399381 0.00008
NM_000303.3(PMM2):c.339G>A (p.Pro113=) rs149849259 0.00006
NM_000303.3(PMM2):c.435C>T (p.Tyr145=) rs550231531 0.00006
NM_000303.3(PMM2):c.640-12G>A rs375325546 0.00006
NM_000303.3(PMM2):c.738C>G (p.Ser246=) rs373888957 0.00005
NM_000303.3(PMM2):c.120A>G (p.Lys40=) rs975864088 0.00004
NM_000303.3(PMM2):c.135C>T (p.Gly45=) rs748980961 0.00004
NM_000303.3(PMM2):c.192C>T (p.Tyr64=) rs372537052 0.00004
NM_000303.3(PMM2):c.384C>T (p.Asn128=) rs147068457 0.00004
NM_000303.3(PMM2):c.639+10G>A rs200593954 0.00004
NM_000303.3(PMM2):c.24C>G (p.Leu8=) rs751757467 0.00003
NM_000303.3(PMM2):c.256-10C>T rs756647792 0.00003
NM_000303.3(PMM2):c.573C>T (p.Tyr191=) rs201440361 0.00003
NM_000303.3(PMM2):c.597C>T (p.Asp199=) rs376412367 0.00003
NM_000303.3(PMM2):c.699G>A (p.Ala233=) rs375881270 0.00003
NM_000303.3(PMM2):c.712C>T (p.Arg238Cys) rs142459706 0.00003
NM_000303.3(PMM2):c.15C>A (p.Gly5=) rs1277297216 0.00002
NM_000303.3(PMM2):c.524-16C>T rs748427371 0.00002
NM_000303.3(PMM2):c.711G>A (p.Thr237=) rs753794337 0.00002
NM_000303.3(PMM2):c.111G>A (p.Gln37=) rs762773046 0.00001
NM_000303.3(PMM2):c.126A>G (p.Gly42=) rs766984518 0.00001
NM_000303.3(PMM2):c.129G>C (p.Val43=) rs777608895 0.00001
NM_000303.3(PMM2):c.141G>A (p.Ser47=) rs533650526 0.00001
NM_000303.3(PMM2):c.159G>A (p.Gln53=) rs1481859853 0.00001
NM_000303.3(PMM2):c.179-4G>T rs776262869 0.00001
NM_000303.3(PMM2):c.213T>C (p.Asn71=) rs1209724849 0.00001
NM_000303.3(PMM2):c.240A>G (p.Lys80=) rs748552663 0.00001
NM_000303.3(PMM2):c.27C>T (p.Cys9=) rs1057516943 0.00001
NM_000303.3(PMM2):c.306C>T (p.Tyr102=) rs184769421 0.00001
NM_000303.3(PMM2):c.312G>A (p.Leu104=) rs773943361 0.00001
NM_000303.3(PMM2):c.390C>T (p.Ser130=) rs763944822 0.00001
NM_000303.3(PMM2):c.408C>T (p.Cys136=) rs371694616 0.00001
NM_000303.3(PMM2):c.414A>G (p.Gln138=) rs1465175487 0.00001
NM_000303.3(PMM2):c.523+8A>G rs374840518 0.00001
NM_000303.3(PMM2):c.524-15G>A rs770574770 0.00001
NM_000303.3(PMM2):c.524-6C>T rs772184641 0.00001
NM_000303.3(PMM2):c.549T>C (p.Phe183=) rs1426754260 0.00001
NM_000303.3(PMM2):c.639+7A>G rs2060687125 0.00001
NM_000303.3(PMM2):c.640-7T>C rs1255464127 0.00001
NM_000303.3(PMM2):c.648T>C (p.Asn216=) rs139236770 0.00001
NM_000303.3(PMM2):c.66+7G>A rs1272368081 0.00001
NM_000303.3(PMM2):c.690C>T (p.Ser230=) rs769332588 0.00001
NM_000303.3(PMM2):c.720C>A (p.Ile240=) rs923499720 0.00001
NM_000303.3(PMM2):c.*1224C>A rs74008087
NM_000303.3(PMM2):c.105G>A (p.Leu35=)
NM_000303.3(PMM2):c.123C>T (p.Ile41=) rs751463681
NM_000303.3(PMM2):c.129G>A (p.Val43=) rs777608895
NM_000303.3(PMM2):c.129G>T (p.Val43=) rs777608895
NM_000303.3(PMM2):c.135C>A (p.Gly45=) rs748980961
NM_000303.3(PMM2):c.156G>A (p.Val52=)
NM_000303.3(PMM2):c.156G>T (p.Val52=) rs2141017027
NM_000303.3(PMM2):c.15C>G (p.Gly5=)
NM_000303.3(PMM2):c.15C>T (p.Gly5=)
NM_000303.3(PMM2):c.162G>A (p.Glu54=) rs1596484153
NM_000303.3(PMM2):c.165A>G (p.Gln55=)
NM_000303.3(PMM2):c.168G>T (p.Leu56=) rs1013771553
NM_000303.3(PMM2):c.178+11G>C
NM_000303.3(PMM2):c.178+20T>G
NM_000303.3(PMM2):c.178+7G>A rs376829859
NM_000303.3(PMM2):c.179-12T>C
NM_000303.3(PMM2):c.179-13G>A
NM_000303.3(PMM2):c.179-20T>G
NM_000303.3(PMM2):c.179-4G>A
NM_000303.3(PMM2):c.179-6T>C rs2060637002
NM_000303.3(PMM2):c.179-7A>T rs2060636990
NM_000303.3(PMM2):c.179-8G>C
NM_000303.3(PMM2):c.18A>G (p.Pro6=)
NM_000303.3(PMM2):c.195T>C (p.Asp65=)
NM_000303.3(PMM2):c.207A>G (p.Pro69=) rs1053902842
NM_000303.3(PMM2):c.217T>C (p.Leu73=) rs1446327044
NM_000303.3(PMM2):c.21G>C (p.Ala7=) rs1333237246
NM_000303.3(PMM2):c.225A>G (p.Ala75=)
NM_000303.3(PMM2):c.234T>C (p.Asp78=) rs1186149338
NM_000303.3(PMM2):c.243C>T (p.Leu81=) rs1169352353
NM_000303.3(PMM2):c.244T>C (p.Leu82=) rs1399590258
NM_000303.3(PMM2):c.255+17C>G
NM_000303.3(PMM2):c.255+8C>T
NM_000303.3(PMM2):c.256-15A>T
NM_000303.3(PMM2):c.256-17G>T
NM_000303.3(PMM2):c.256-18_256-15del
NM_000303.3(PMM2):c.256-5T>C rs1430962288
NM_000303.3(PMM2):c.256-6A>C
NM_000303.3(PMM2):c.256-7C>T rs561075568
NM_000303.3(PMM2):c.264A>G (p.Gln88=) rs376597290
NM_000303.3(PMM2):c.270T>C (p.His90=)
NM_000303.3(PMM2):c.273G>A (p.Leu91=) rs2141019988
NM_000303.3(PMM2):c.279G>A (p.Glu93=)
NM_000303.3(PMM2):c.283C>T (p.Leu95=) rs2060647522
NM_000303.3(PMM2):c.285A>C (p.Leu95=) rs2141019992
NM_000303.3(PMM2):c.285A>T (p.Leu95=)
NM_000303.3(PMM2):c.288C>T (p.Ile96=)
NM_000303.3(PMM2):c.294T>C (p.Asp98=)
NM_000303.3(PMM2):c.295T>C (p.Leu99=)
NM_000303.3(PMM2):c.297A>G (p.Leu99=)
NM_000303.3(PMM2):c.300C>A (p.Ile100=)
NM_000303.3(PMM2):c.300C>T (p.Ile100=) rs747970886
NM_000303.3(PMM2):c.318C>T (p.Tyr106=) rs930344709
NM_000303.3(PMM2):c.324G>C (p.Ala108=)
NM_000303.3(PMM2):c.336C>G (p.Leu112=)
NM_000303.3(PMM2):c.339G>C (p.Pro113=)
NM_000303.3(PMM2):c.339G>T (p.Pro113=) rs149849259
NM_000303.3(PMM2):c.345G>A (p.Lys115=) rs2141020046
NM_000303.3(PMM2):c.347+15A>C rs751222355
NM_000303.3(PMM2):c.347+17C>T
NM_000303.3(PMM2):c.347+20A>G
NM_000303.3(PMM2):c.347+8T>C
NM_000303.3(PMM2):c.348-14C>T
NM_000303.3(PMM2):c.348-17C>T
NM_000303.3(PMM2):c.348-19G>A rs1057523353
NM_000303.3(PMM2):c.348-19_348-18del
NM_000303.3(PMM2):c.348-3del rs2141022947
NM_000303.3(PMM2):c.348-4C>T
NM_000303.3(PMM2):c.348-5C>A rs746660218
NM_000303.3(PMM2):c.348-5C>T rs746660218
NM_000303.3(PMM2):c.348-8A>C
NM_000303.3(PMM2):c.348-8A>T rs186061775
NM_000303.3(PMM2):c.348-9C>A rs1247908378
NM_000303.3(PMM2):c.354T>C (p.Thr118=) rs2141022957
NM_000303.3(PMM2):c.357C>T (p.Phe119=) rs80338701
NM_000303.3(PMM2):c.375G>A (p.Gly125=)
NM_000303.3(PMM2):c.375G>T (p.Gly125=)
NM_000303.3(PMM2):c.387G>A (p.Val129=) rs1310455453
NM_000303.3(PMM2):c.387G>C (p.Val129=)
NM_000303.3(PMM2):c.390C>G (p.Ser130=) rs763944822
NM_000303.3(PMM2):c.396T>A (p.Ile132=)
NM_000303.3(PMM2):c.396T>C (p.Ile132=) rs750388534
NM_000303.3(PMM2):c.399A>G (p.Gly133=) rs886043741
NM_000303.3(PMM2):c.405C>T (p.Ser135=)
NM_000303.3(PMM2):c.441C>G (p.Leu147=) rs146990448
NM_000303.3(PMM2):c.444T>C (p.Asp148=) rs2141023076
NM_000303.3(PMM2):c.447+11C>A
NM_000303.3(PMM2):c.447+19T>A
NM_000303.3(PMM2):c.447+7C>A rs1365835297
NM_000303.3(PMM2):c.447+7C>G rs1365835297
NM_000303.3(PMM2):c.447+7C>T
NM_000303.3(PMM2):c.447+8T>C
NM_000303.3(PMM2):c.448-11G>A
NM_000303.3(PMM2):c.448-13_448-12del rs1000876069
NM_000303.3(PMM2):c.448-15T>C
NM_000303.3(PMM2):c.448-16T>C
NM_000303.3(PMM2):c.448-18T>A
NM_000303.3(PMM2):c.448-18T>C
NM_000303.3(PMM2):c.448-23_448-18del rs747968957
NM_000303.3(PMM2):c.45G>C (p.Gly15=) rs2141014144
NM_000303.3(PMM2):c.477A>G (p.Ala159=)
NM_000303.3(PMM2):c.483A>G (p.Leu161=)
NM_000303.3(PMM2):c.483A>T (p.Leu161=) rs1433032795
NM_000303.3(PMM2):c.486G>T (p.Arg162=)
NM_000303.3(PMM2):c.48C>A (p.Thr16=)
NM_000303.3(PMM2):c.507C>T (p.Gly169=) rs2141023382
NM_000303.3(PMM2):c.513G>C (p.Thr171=)
NM_000303.3(PMM2):c.51C>A (p.Leu17=) rs753546439
NM_000303.3(PMM2):c.51C>G (p.Leu17=)
NM_000303.3(PMM2):c.523+10A>G rs2141023411
NM_000303.3(PMM2):c.523+11T>C
NM_000303.3(PMM2):c.523+13T>C
NM_000303.3(PMM2):c.523+14T>C
NM_000303.3(PMM2):c.523+15G>A
NM_000303.3(PMM2):c.523+16C>G
NM_000303.3(PMM2):c.523+18T>A
NM_000303.3(PMM2):c.523+19G>C
NM_000303.3(PMM2):c.524-10C>T
NM_000303.3(PMM2):c.524-13C>G
NM_000303.3(PMM2):c.524-15G>C
NM_000303.3(PMM2):c.524-17C>A
NM_000303.3(PMM2):c.524-17C>T
NM_000303.3(PMM2):c.524-4G>T
NM_000303.3(PMM2):c.524-4del rs1315129289
NM_000303.3(PMM2):c.524-6del rs746143153
NM_000303.3(PMM2):c.524-7C>T rs2141024194
NM_000303.3(PMM2):c.524-9A>C rs2141024190
NM_000303.3(PMM2):c.528C>T (p.Gly176=)
NM_000303.3(PMM2):c.531G>A (p.Gln177=)
NM_000303.3(PMM2):c.534C>T (p.Ile178=)
NM_000303.3(PMM2):c.537C>T (p.Ser179=)
NM_000303.3(PMM2):c.54C>T (p.Thr18=)
NM_000303.3(PMM2):c.552T>C (p.Pro184=) rs560182098
NM_000303.3(PMM2):c.558A>G (p.Gly186=)
NM_000303.3(PMM2):c.564C>T (p.Asp188=) rs2060686207
NM_000303.3(PMM2):c.567G>A (p.Lys189=)
NM_000303.3(PMM2):c.568A>C (p.Arg190=)
NM_000303.3(PMM2):c.585T>C (p.His195=) rs2141024274
NM_000303.3(PMM2):c.600T>A (p.Gly200=)
NM_000303.3(PMM2):c.603T>C (p.Tyr201=)
NM_000303.3(PMM2):c.609C>T (p.Thr203=)
NM_000303.3(PMM2):c.60G>A (p.Pro20=) rs2141014167
NM_000303.3(PMM2):c.615T>C (p.Tyr205=)
NM_000303.3(PMM2):c.618C>T (p.Phe206=) rs1460691341
NM_000303.3(PMM2):c.61C>A (p.Arg21=) rs758340382
NM_000303.3(PMM2):c.621T>C (p.Phe207=)
NM_000303.3(PMM2):c.633T>C (p.Thr211=) rs749542076
NM_000303.3(PMM2):c.639+19G>A
NM_000303.3(PMM2):c.639+8G>C
NM_000303.3(PMM2):c.639+9A>G
NM_000303.3(PMM2):c.63G>A (p.Arg21=)
NM_000303.3(PMM2):c.640-12G>C rs375325546
NM_000303.3(PMM2):c.640-17A>C
NM_000303.3(PMM2):c.640-23A>G rs981372486
NM_000303.3(PMM2):c.640-25_640-22dup rs1555453228
NM_000303.3(PMM2):c.640-4C>G
NM_000303.3(PMM2):c.651C>T (p.Asp217=) rs752614554
NM_000303.3(PMM2):c.66+10G>A rs747786171
NM_000303.3(PMM2):c.66+10_66+12del rs1213382634
NM_000303.3(PMM2):c.66+12C>T
NM_000303.3(PMM2):c.66+13C>T
NM_000303.3(PMM2):c.66+13_66+20del rs1596481910
NM_000303.3(PMM2):c.66+17G>A
NM_000303.3(PMM2):c.66+20C>G
NM_000303.3(PMM2):c.66+9C>A
NM_000303.3(PMM2):c.66+9C>T
NM_000303.3(PMM2):c.663C>T (p.Phe221=) rs199927358
NM_000303.3(PMM2):c.666A>G (p.Thr222=) rs770457654
NM_000303.3(PMM2):c.669C>T (p.Asp223=) rs104894531
NM_000303.3(PMM2):c.67-15T>C
NM_000303.3(PMM2):c.67-20T>C
NM_000303.3(PMM2):c.67-8A>G
NM_000303.3(PMM2):c.672C>T (p.Pro224=) rs2141051463
NM_000303.3(PMM2):c.678C>T (p.Thr226=) rs1480238805
NM_000303.3(PMM2):c.687C>T (p.Tyr229=)
NM_000303.3(PMM2):c.693G>T (p.Val231=)
NM_000303.3(PMM2):c.696A>G (p.Thr232=) rs2141051514
NM_000303.3(PMM2):c.705G>A (p.Glu235=)
NM_000303.3(PMM2):c.708C>T (p.Asp236=) rs752495420
NM_000303.3(PMM2):c.711G>C (p.Thr237=)
NM_000303.3(PMM2):c.714C>G (p.Arg238=) rs141562154
NM_000303.3(PMM2):c.720C>T (p.Ile240=)
NM_000303.3(PMM2):c.730C>T (p.Leu244=) rs1205209003
NM_000303.3(PMM2):c.732G>C (p.Leu244=) rs1164763496
NM_000303.3(PMM2):c.75C>G (p.Thr25=) rs1172729028
NM_000303.3(PMM2):c.78A>G (p.Lys26=)
NM_000303.3(PMM2):c.94C>T (p.Leu32=)
NM_000303.3(PMM2):c.96A>G (p.Leu32=)
NM_000303.3(PMM2):c.96A>T (p.Leu32=)
NM_000303.3(PMM2):c.9G>C (p.Ala3=) rs2060588329

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