ClinVar Miner

List of variants in gene PGM3 reported as uncertain significance for immune system disorder

Included ClinVar conditions (908):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 129
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HGVS dbSNP gnomAD frequency
NM_015599.3(PGM3):c.1354C>A (p.Leu452Ile) rs201593125 0.00061
NM_015599.3(PGM3):c.389+3G>A rs201392846 0.00060
NM_015599.3(PGM3):c.-2-226T>C rs373825865 0.00034
NM_015599.3(PGM3):c.325A>T (p.Ile109Phe) rs140499200 0.00033
NM_015599.3(PGM3):c.178A>G (p.Met60Val) rs114464760 0.00016
NM_015599.3(PGM3):c.1204G>A (p.Ala402Thr) rs139511953 0.00013
NM_015599.3(PGM3):c.38A>G (p.His13Arg) rs142328170 0.00008
NM_015599.3(PGM3):c.506G>A (p.Arg169Gln) rs752438675 0.00008
NM_015599.3(PGM3):c.450A>G (p.Gln150=) rs755097152 0.00006
NM_015599.3(PGM3):c.1243-14_1243-3del rs746204699 0.00005
NM_015599.3(PGM3):c.301G>C (p.Asp101His) rs775939917 0.00005
NM_015599.3(PGM3):c.-2-208A>G rs1162624008 0.00004
NM_015599.3(PGM3):c.1020A>C (p.Glu340Asp) rs200381959 0.00004
NM_015599.3(PGM3):c.1040A>G (p.Tyr347Cys) rs139056409 0.00004
NM_015599.3(PGM3):c.11G>A (p.Gly4Asp) rs762878360 0.00004
NM_015599.3(PGM3):c.1242+3C>T rs201135600 0.00003
NM_015599.3(PGM3):c.169A>G (p.Ile57Val) rs778562800 0.00003
NM_015599.3(PGM3):c.505C>G (p.Arg169Gly) rs142161221 0.00003
NM_015599.3(PGM3):c.618A>C (p.Arg206Ser) rs148817553 0.00003
NM_015599.3(PGM3):c.212A>G (p.Asn71Ser) rs755618669 0.00002
NM_015599.3(PGM3):c.847G>A (p.Val283Ile) rs1339891026 0.00002
NM_015599.3(PGM3):c.-2-209C>A rs1438440008 0.00001
NM_015599.3(PGM3):c.-2-227A>C rs762473433 0.00001
NM_015599.3(PGM3):c.1039T>C (p.Tyr347His) rs958896393 0.00001
NM_015599.3(PGM3):c.1126A>C (p.Thr376Pro) rs1562417226 0.00001
NM_015599.3(PGM3):c.1135T>C (p.Phe379Leu) rs774568856 0.00001
NM_015599.3(PGM3):c.136G>A (p.Ala46Thr) rs1181199519 0.00001
NM_015599.3(PGM3):c.219A>G (p.Val73=) rs752657453 0.00001
NM_015599.3(PGM3):c.22A>G (p.Lys8Glu) rs749320607 0.00001
NM_015599.3(PGM3):c.389+4A>G rs994978040 0.00001
NM_015599.3(PGM3):c.404A>G (p.Lys135Arg) rs988238790 0.00001
NM_015599.3(PGM3):c.436G>A (p.Val146Ile) rs1270609084 0.00001
NM_015599.3(PGM3):c.493A>G (p.Met165Val) rs757625553 0.00001
NM_015599.3(PGM3):c.512C>T (p.Thr171Met) rs368371936 0.00001
NM_015599.3(PGM3):c.574G>A (p.Val192Met) rs778255624 0.00001
NM_015599.3(PGM3):c.584C>T (p.Thr195Ile) rs1254419923 0.00001
NM_015599.3(PGM3):c.613T>C (p.Tyr205His) rs754646068 0.00001
NM_015599.3(PGM3):c.703C>G (p.Gln235Glu) rs774767366 0.00001
NM_015599.3(PGM3):c.787+5G>A rs779711753 0.00001
NM_015599.3(PGM3):c.86G>A (p.Arg29Gln) rs375717834 0.00001
NM_015599.3(PGM3):c.965T>C (p.Ile322Thr) rs745508510 0.00001
NC_000006.11:g.(?_83878953)_(83900987_?)dup
NM_015599.3(PGM3):c.-2-176G>T rs776399870
NM_015599.3(PGM3):c.-2-187G>A
NM_015599.3(PGM3):c.-2-190T>C rs73749738
NM_015599.3(PGM3):c.-2-194C>G
NM_015599.3(PGM3):c.-2-218G>A
NM_015599.3(PGM3):c.-2-233T>G
NM_015599.3(PGM3):c.-2-245_-2-237del rs1449742310
NM_015599.3(PGM3):c.-2-3T>C rs1789000800
NM_015599.3(PGM3):c.1003A>G (p.Thr335Ala) rs1787955099
NM_015599.3(PGM3):c.1006C>T (p.Arg336Trp)
NM_015599.3(PGM3):c.1029+5T>G rs2128493694
NM_015599.3(PGM3):c.1030-10T>A rs368294786
NM_015599.3(PGM3):c.1030G>C (p.Val344Leu) rs2128490985
NM_015599.3(PGM3):c.1030G>T (p.Val344Leu)
NM_015599.3(PGM3):c.1051A>T (p.Thr351Ser)
NM_015599.3(PGM3):c.1063C>G (p.His355Asp) rs2128490958
NM_015599.3(PGM3):c.106G>C (p.Asp36His)
NM_015599.3(PGM3):c.1121A>G (p.His374Arg)
NM_015599.3(PGM3):c.1128+2dup rs2128490930
NM_015599.3(PGM3):c.1145C>G (p.Ala382Gly) rs2128489483
NM_015599.3(PGM3):c.1166A>G (p.Gln389Arg) rs1787600940
NM_015599.3(PGM3):c.1175AAC[1] (p.Gln393del) rs1296012320
NM_015599.3(PGM3):c.1188T>A (p.Asp396Glu)
NM_015599.3(PGM3):c.1224T>G (p.Ile408Met)
NM_015599.3(PGM3):c.122G>A (p.Arg41His)
NM_015599.3(PGM3):c.1268T>C (p.Met423Thr) rs1554257039
NM_015599.3(PGM3):c.1268T>G (p.Met423Arg) rs1554257039
NM_015599.3(PGM3):c.1277T>C (p.Ile426Thr)
NM_015599.3(PGM3):c.1285A>G (p.Ile429Val)
NM_015599.3(PGM3):c.1289T>G (p.Leu430Trp)
NM_015599.3(PGM3):c.1327C>G (p.Leu443Val) rs141509908
NM_015599.3(PGM3):c.1327C>T (p.Leu443Phe) rs141509908
NM_015599.3(PGM3):c.1365+5G>C
NM_015599.3(PGM3):c.137C>G (p.Ala46Gly) rs1261795420
NM_015599.3(PGM3):c.143T>C (p.Leu48Pro) rs2128508906
NM_015599.3(PGM3):c.161A>C (p.Lys54Thr) rs745501523
NM_015599.3(PGM3):c.172G>C (p.Gly58Arg)
NM_015599.3(PGM3):c.179T>C (p.Met60Thr)
NM_015599.3(PGM3):c.181G>T (p.Val61Leu) rs1583298383
NM_015599.3(PGM3):c.197A>C (p.Asn66Thr)
NM_015599.3(PGM3):c.204+9T>G
NM_015599.3(PGM3):c.215G>A (p.Gly72Asp) rs1788807472
NM_015599.3(PGM3):c.230A>T (p.Asp77Val) rs1788806780
NM_015599.3(PGM3):c.239G>A (p.Gly80Asp)
NM_015599.3(PGM3):c.251C>T (p.Ala84Val) rs2128506463
NM_015599.3(PGM3):c.253C>G (p.Pro85Ala) rs1788804378
NM_015599.3(PGM3):c.286A>G (p.Asn96Asp)
NM_015599.3(PGM3):c.322G>C (p.Asp108His)
NM_015599.3(PGM3):c.331G>A (p.Glu111Lys) rs2128506406
NM_015599.3(PGM3):c.335A>G (p.Lys112Arg) rs1788799231
NM_015599.3(PGM3):c.338A>C (p.Glu113Ala) rs1207568204
NM_015599.3(PGM3):c.358G>T (p.Asp120Tyr) rs1788796668
NM_015599.3(PGM3):c.362C>G (p.Ala121Gly) rs201506489
NM_015599.3(PGM3):c.389+19_389+21delinsTTG
NM_015599.3(PGM3):c.389+6G>A
NM_015599.3(PGM3):c.392C>G (p.Pro131Arg)
NM_015599.3(PGM3):c.402G>C (p.Glu134Asp)
NM_015599.3(PGM3):c.409T>C (p.Ser137Pro)
NM_015599.3(PGM3):c.421A>G (p.Ile141Val)
NM_015599.3(PGM3):c.431T>C (p.Val144Ala)
NM_015599.3(PGM3):c.436G>T (p.Val146Phe)
NM_015599.3(PGM3):c.451T>C (p.Phe151Leu)
NM_015599.3(PGM3):c.473C>G (p.Thr158Arg) rs760200977
NM_015599.3(PGM3):c.493A>T (p.Met165Leu) rs757625553
NM_015599.3(PGM3):c.510C>A (p.Asn170Lys) rs2128498553
NM_015599.3(PGM3):c.521G>T (p.Arg174Leu) rs73749732
NM_015599.3(PGM3):c.532G>A (p.Ala178Thr) rs1041974128
NM_015599.3(PGM3):c.544G>A (p.Gly182Ser)
NM_015599.3(PGM3):c.558A>T (p.Lys186Asn)
NM_015599.3(PGM3):c.563C>G (p.Ser188Cys)
NM_015599.3(PGM3):c.566A>G (p.Lys189Arg) rs1251637218
NM_015599.3(PGM3):c.581T>C (p.Leu194Pro) rs2128498468
NM_015599.3(PGM3):c.592G>A (p.Ala198Thr)
NM_015599.3(PGM3):c.609T>G (p.Asp203Glu)
NM_015599.3(PGM3):c.60C>G (p.Ile20Met) rs750145657
NM_015599.3(PGM3):c.629T>C (p.Val210Ala) rs1395736662
NM_015599.3(PGM3):c.64C>G (p.Gln22Glu)
NM_015599.3(PGM3):c.680A>G (p.Tyr227Cys)
NM_015599.3(PGM3):c.745T>C (p.Cys249Arg) rs1788195656
NM_015599.3(PGM3):c.770A>T (p.His257Leu) rs369781935
NM_015599.3(PGM3):c.787+17C>G rs1788189509
NM_015599.3(PGM3):c.788G>C (p.Gly263Ala) rs1199492798
NM_015599.3(PGM3):c.806A>G (p.Asn269Ser)
NM_015599.3(PGM3):c.809A>G (p.Glu270Gly)
NM_015599.3(PGM3):c.94G>C (p.Ala32Pro) rs773608450
NM_015599.3(PGM3):c.970G>A (p.Val324Ile)
NM_015599.3(PGM3):c.985T>C (p.Tyr329His)

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