ClinVar Miner

List of variants reported as uncertain significance for immunodeficiency 23

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 154
Download table as spreadsheet
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.1612C>A (p.Pro538Thr) rs143654268 0.00019
NM_015599.3(PGM3):c.1510G>A (p.Val504Ile) rs529906310 0.00016
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.1466A>G (p.Lys489Arg) rs369328277 0.00007
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.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.1554C>A (p.His518Gln) rs375523747 0.00004
NM_015599.3(PGM3):c.-2-208A>G rs1162624008 0.00003
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.1514G>A (p.Arg505Gln) rs772233718 0.00002
NM_015599.3(PGM3):c.1601T>C (p.Ile534Thr) rs746702734 0.00002
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.1459A>G (p.Lys487Glu) rs199998117 0.00001
NM_015599.3(PGM3):c.1487G>A (p.Arg496Gln) rs1447955006 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.1370C>T (p.Ala457Val) rs2128479369
NM_015599.3(PGM3):c.137C>G (p.Ala46Gly) rs1261795420
NM_015599.3(PGM3):c.1381G>C (p.Val461Leu)
NM_015599.3(PGM3):c.1435G>C (p.Glu479Gln)
NM_015599.3(PGM3):c.1438_1439delinsAA (p.Ala480Lys) rs2128479091
NM_015599.3(PGM3):c.1439C>T (p.Ala480Val) rs775608964
NM_015599.3(PGM3):c.143T>C (p.Leu48Pro) rs2128508906
NM_015599.3(PGM3):c.1448A>G (p.Asp483Gly) rs2128479046
NM_015599.3(PGM3):c.1461G>C (p.Lys487Asn) rs2128479028
NM_015599.3(PGM3):c.1513C>T (p.Arg505Ter) rs1786845541
NM_015599.3(PGM3):c.1514G>T (p.Arg505Leu) rs772233718
NM_015599.3(PGM3):c.1539+4A>G
NM_015599.3(PGM3):c.1539+6C>G rs1002434518
NM_015599.3(PGM3):c.1585C>T (p.Gln529Ter)
NM_015599.3(PGM3):c.1586A>C (p.Gln529Pro) rs1786554799
NM_015599.3(PGM3):c.1592C>T (p.Ala531Val) rs541410808
NM_015599.3(PGM3):c.1594G>A (p.Gly532Arg)
NM_015599.3(PGM3):c.1610G>T (p.Arg537Met) rs1583239543
NM_015599.3(PGM3):c.161A>C (p.Lys54Thr) rs745501523
NM_015599.3(PGM3):c.1626C>A (p.Phe542Leu)
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)

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.