ClinVar Miner

List of variants reported as likely benign for Immunodeficiency 23

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 266
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HGVS dbSNP gnomAD frequency
NM_015599.3(PGM3):c.33A>G (p.Ala11=) rs150763574 0.00411
NM_015599.3(PGM3):c.1174G>C (p.Glu392Gln) rs149679266 0.00141
NM_015599.3(PGM3):c.1030-11A>G rs370851424 0.00041
NM_015599.3(PGM3):c.-2-225C>T rs773094385 0.00030
NM_015599.3(PGM3):c.787+8G>A rs778342353 0.00022
NM_015599.3(PGM3):c.439C>T (p.Leu147=) rs142142489 0.00019
NM_015599.3(PGM3):c.285A>G (p.Ala95=) rs147051437 0.00015
NM_015599.3(PGM3):c.592-19G>A rs373321504 0.00005
NM_015599.3(PGM3):c.1395C>T (p.Thr465=) rs540471794 0.00004
NM_015599.3(PGM3):c.-2-166C>T rs755174589 0.00003
NM_015599.3(PGM3):c.69C>T (p.Tyr23=) rs202123065 0.00003
NM_015599.3(PGM3):c.787+7C>T rs376979392 0.00003
NM_015599.3(PGM3):c.984A>G (p.Ala328=) rs746481255 0.00003
NM_015599.3(PGM3):c.1029+10C>G rs780749497 0.00002
NM_015599.3(PGM3):c.458-7A>G rs771921647 0.00002
NM_015599.3(PGM3):c.1047T>G (p.Thr349=) rs929818392 0.00001
NM_015599.3(PGM3):c.1128+18T>C rs754127394 0.00001
NM_015599.3(PGM3):c.1566A>G (p.Glu522=) rs780767075 0.00001
NM_015599.3(PGM3):c.1590G>A (p.Leu530=) rs1440528392 0.00001
NM_015599.3(PGM3):c.219A>G (p.Val73=) rs752657453 0.00001
NM_015599.3(PGM3):c.252A>G (p.Ala84=) rs752597258 0.00001
NM_015599.3(PGM3):c.357A>G (p.Gln119=) rs754954770 0.00001
NM_015599.3(PGM3):c.39C>T (p.His13=) rs763886701 0.00001
NM_015599.3(PGM3):c.405A>G (p.Lys135=) rs777989465 0.00001
NM_015599.3(PGM3):c.458-14T>C rs1339684418 0.00001
NM_015599.3(PGM3):c.585C>T (p.Thr195=) rs756553587 0.00001
NM_015599.3(PGM3):c.873C>T (p.Gly291=) rs778451478 0.00001
NM_015599.3(PGM3):c.897C>T (p.Asp299=) rs777605557 0.00001
NM_015599.3(PGM3):c.958T>C (p.Leu320=) rs775825306 0.00001
NM_015599.3(PGM3):c.-2-10A>G
NM_015599.3(PGM3):c.-2-12T>C
NM_015599.3(PGM3):c.-2-155G>A
NM_015599.3(PGM3):c.-2-156G>A rs549230069
NM_015599.3(PGM3):c.-2-156G>C rs549230069
NM_015599.3(PGM3):c.-2-160C>A
NM_015599.3(PGM3):c.-2-162C>G
NM_015599.3(PGM3):c.-2-164A>G
NM_015599.3(PGM3):c.-2-166C>G rs755174589
NM_015599.3(PGM3):c.-2-16T>C
NM_015599.3(PGM3):c.-2-17A>G
NM_015599.3(PGM3):c.-2-180T>C rs2128509286
NM_015599.3(PGM3):c.-2-186A>G rs2128509300
NM_015599.3(PGM3):c.-2-198A>C
NM_015599.3(PGM3):c.-2-19A>G
NM_015599.3(PGM3):c.-2-204G>A
NM_015599.3(PGM3):c.-2-210C>G
NM_015599.3(PGM3):c.-2-213T>G
NM_015599.3(PGM3):c.-2-228T>C
NM_015599.3(PGM3):c.-2-234A>G
NM_015599.3(PGM3):c.-2-243G>A rs1328940108
NM_015599.3(PGM3):c.1005A>G (p.Thr335=)
NM_015599.3(PGM3):c.1008G>A (p.Arg336=) rs918519577
NM_015599.3(PGM3):c.1029+12T>C
NM_015599.3(PGM3):c.1029+12T>G rs1034568438
NM_015599.3(PGM3):c.1029+15T>C rs2128493670
NM_015599.3(PGM3):c.1030-10T>C
NM_015599.3(PGM3):c.1030-13G>A
NM_015599.3(PGM3):c.1030-13G>C
NM_015599.3(PGM3):c.1030-6T>C
NM_015599.3(PGM3):c.1030-7G>T
NM_015599.3(PGM3):c.1030-8T>C
NM_015599.3(PGM3):c.1032A>G (p.Val344=)
NM_015599.3(PGM3):c.1035T>A (p.Pro345=)
NM_015599.3(PGM3):c.1038C>T (p.Val346=) rs749028501
NM_015599.3(PGM3):c.1041T>C (p.Tyr347=)
NM_015599.3(PGM3):c.1059A>G (p.Val353=)
NM_015599.3(PGM3):c.1104T>C (p.Tyr368=)
NM_015599.3(PGM3):c.1119G>T (p.Gly373=)
NM_015599.3(PGM3):c.111T>C (p.His37=)
NM_015599.3(PGM3):c.1128+10_1128+12del
NM_015599.3(PGM3):c.1129-16T>C
NM_015599.3(PGM3):c.1129-17A>C
NM_015599.3(PGM3):c.1129-17A>G
NM_015599.3(PGM3):c.1129-18T>G
NM_015599.3(PGM3):c.1129-20T>C
NM_015599.3(PGM3):c.1129-20T>G
NM_015599.3(PGM3):c.1129-4G>C
NM_015599.3(PGM3):c.1129-8T>C
NM_015599.3(PGM3):c.1131A>G (p.Ala377=) rs1177488532
NM_015599.3(PGM3):c.1131A>T (p.Ala377=)
NM_015599.3(PGM3):c.1137T>C (p.Phe379=) rs1235287635
NM_015599.3(PGM3):c.1143A>T (p.Thr381=)
NM_015599.3(PGM3):c.1146T>C (p.Ala382=)
NM_015599.3(PGM3):c.1146T>G (p.Ala382=)
NM_015599.3(PGM3):c.1167A>G (p.Gln389=)
NM_015599.3(PGM3):c.1188T>C (p.Asp396=) rs1787597946
NM_015599.3(PGM3):c.1227T>A (p.Ile409=)
NM_015599.3(PGM3):c.1231T>C (p.Leu411=)
NM_015599.3(PGM3):c.1242+10G>C
NM_015599.3(PGM3):c.1242+10G>T
NM_015599.3(PGM3):c.1242+17C>T
NM_015599.3(PGM3):c.1242+19G>C
NM_015599.3(PGM3):c.1242+20T>C
NM_015599.3(PGM3):c.1243-14T>C
NM_015599.3(PGM3):c.1243-14T>G
NM_015599.3(PGM3):c.1243-15_1243-4del rs773922847
NM_015599.3(PGM3):c.1243-16G>A
NM_015599.3(PGM3):c.1243-4G>T
NM_015599.3(PGM3):c.1243-6T>A
NM_015599.3(PGM3):c.1243-6T>C
NM_015599.3(PGM3):c.1243-7T>C rs2128484530
NM_015599.3(PGM3):c.1243-9C>T
NM_015599.3(PGM3):c.1254T>C (p.Asp418=)
NM_015599.3(PGM3):c.1257T>G (p.Ala419=) rs1583255127
NM_015599.3(PGM3):c.1272G>C (p.Leu424=)
NM_015599.3(PGM3):c.1275G>C (p.Val425=)
NM_015599.3(PGM3):c.1294C>T (p.Leu432=) rs2128484391
NM_015599.3(PGM3):c.1296G>C (p.Leu432=)
NM_015599.3(PGM3):c.1303T>C (p.Leu435=)
NM_015599.3(PGM3):c.1305G>A (p.Leu435=)
NM_015599.3(PGM3):c.1314A>G (p.Gln438=) rs984829325
NM_015599.3(PGM3):c.1317G>A (p.Gln439=)
NM_015599.3(PGM3):c.133T>C (p.Leu45=)
NM_015599.3(PGM3):c.1353A>G (p.Gln451=) rs2128484343
NM_015599.3(PGM3):c.1365+13C>G
NM_015599.3(PGM3):c.1365+17A>G
NM_015599.3(PGM3):c.1365+17A>T
NM_015599.3(PGM3):c.1365+19_1365+23del
NM_015599.3(PGM3):c.1365+20G>A
NM_015599.3(PGM3):c.1365+8A>G
NM_015599.3(PGM3):c.1371A>G (p.Ala457=)
NM_015599.3(PGM3):c.1374C>T (p.Asp458=)
NM_015599.3(PGM3):c.1377G>A (p.Arg459=)
NM_015599.3(PGM3):c.1389C>T (p.Ser463=)
NM_015599.3(PGM3):c.1398T>C (p.Asp466=)
NM_015599.3(PGM3):c.1405A>C (p.Arg469=)
NM_015599.3(PGM3):c.1422C>T (p.Pro474=) rs2128479132
NM_015599.3(PGM3):c.1450C>T (p.Leu484=)
NM_015599.3(PGM3):c.1473T>C (p.Ser491=) rs1786852929
NM_015599.3(PGM3):c.1474C>A (p.Arg492=)
NM_015599.3(PGM3):c.1485C>T (p.Val495=)
NM_015599.3(PGM3):c.1506T>C (p.Asp502=)
NM_015599.3(PGM3):c.1509C>T (p.Val503=)
NM_015599.3(PGM3):c.150A>G (p.Ser50=)
NM_015599.3(PGM3):c.1512C>T (p.Val504=)
NM_015599.3(PGM3):c.1518A>G (p.Val506=)
NM_015599.3(PGM3):c.1527A>G (p.Glu509=)
NM_015599.3(PGM3):c.1539+16T>G
NM_015599.3(PGM3):c.1539+17C>G
NM_015599.3(PGM3):c.1540-10T>C
NM_015599.3(PGM3):c.1540-16T>C
NM_015599.3(PGM3):c.1540-4G>T
NM_015599.3(PGM3):c.1544G>A (p.Ser515Asn)
NM_015599.3(PGM3):c.1545T>C (p.Ser515=)
NM_015599.3(PGM3):c.1548A>G (p.Ala516=)
NM_015599.3(PGM3):c.1557T>C (p.Leu519=)
NM_015599.3(PGM3):c.1573T>C (p.Leu525=) rs2128473473
NM_015599.3(PGM3):c.1587G>A (p.Gln529=)
NM_015599.3(PGM3):c.15T>C (p.Ala5=) rs760537659
NM_015599.3(PGM3):c.1614C>G (p.Pro538=)
NM_015599.3(PGM3):c.1617A>G (p.Gln539=)
NM_015599.3(PGM3):c.168T>C (p.Thr56=)
NM_015599.3(PGM3):c.168T>G (p.Thr56=)
NM_015599.3(PGM3):c.183A>G (p.Val61=)
NM_015599.3(PGM3):c.189G>A (p.Ala63=)
NM_015599.3(PGM3):c.204+19T>C
NM_015599.3(PGM3):c.204+7G>C
NM_015599.3(PGM3):c.204+8del
NM_015599.3(PGM3):c.205-13T>C
NM_015599.3(PGM3):c.205-14G>A
NM_015599.3(PGM3):c.205-19_205-18insAAAC
NM_015599.3(PGM3):c.205-9T>C rs867146994
NM_015599.3(PGM3):c.223T>C (p.Leu75=)
NM_015599.3(PGM3):c.243A>G (p.Glu81=)
NM_015599.3(PGM3):c.249G>A (p.Leu83=)
NM_015599.3(PGM3):c.264G>A (p.Glu88=)
NM_015599.3(PGM3):c.273C>T (p.Ala91=)
NM_015599.3(PGM3):c.276C>T (p.Thr92=)
NM_015599.3(PGM3):c.315G>A (p.Val105=)
NM_015599.3(PGM3):c.330C>T (p.Ser110=)
NM_015599.3(PGM3):c.363C>T (p.Ala121=) rs1788796145
NM_015599.3(PGM3):c.384T>C (p.Asp128=)
NM_015599.3(PGM3):c.389+11G>C
NM_015599.3(PGM3):c.389+20G>T rs1788788341
NM_015599.3(PGM3):c.390-17T>C
NM_015599.3(PGM3):c.390-8T>C
NM_015599.3(PGM3):c.402G>A (p.Glu134=) rs745659258
NM_015599.3(PGM3):c.411A>T (p.Ser137=)
NM_015599.3(PGM3):c.417T>A (p.Ser139=)
NM_015599.3(PGM3):c.417T>C (p.Ser139=)
NM_015599.3(PGM3):c.420A>G (p.Val140=)
NM_015599.3(PGM3):c.426T>C (p.Asp142=) rs1788634870
NM_015599.3(PGM3):c.42C>T (p.Ala14=)
NM_015599.3(PGM3):c.457+13C>T
NM_015599.3(PGM3):c.457+15T>C
NM_015599.3(PGM3):c.457+16G>A rs2128504254
NM_015599.3(PGM3):c.457+18G>C
NM_015599.3(PGM3):c.457+19T>C
NM_015599.3(PGM3):c.457+7A>T
NM_015599.3(PGM3):c.458-11T>G
NM_015599.3(PGM3):c.458-16T>G
NM_015599.3(PGM3):c.458-9C>A
NM_015599.3(PGM3):c.458-9C>T
NM_015599.3(PGM3):c.45G>A (p.Lys15=)
NM_015599.3(PGM3):c.486G>A (p.Leu162=)
NM_015599.3(PGM3):c.489C>T (p.His163=)
NM_015599.3(PGM3):c.492C>T (p.Tyr164=)
NM_015599.3(PGM3):c.498G>A (p.Val166=)
NM_015599.3(PGM3):c.501T>C (p.Tyr167=)
NM_015599.3(PGM3):c.513G>A (p.Thr171=)
NM_015599.3(PGM3):c.51T>C (p.Asn17=) rs1372571372
NM_015599.3(PGM3):c.522A>G (p.Arg174=)
NM_015599.3(PGM3):c.525T>C (p.Tyr175=)
NM_015599.3(PGM3):c.567G>A (p.Lys189=)
NM_015599.3(PGM3):c.573T>C (p.Phe191=) rs2128498476
NM_015599.3(PGM3):c.591+10T>C
NM_015599.3(PGM3):c.591+11T>C
NM_015599.3(PGM3):c.591+13T>C
NM_015599.3(PGM3):c.591+19A>G rs1308664389
NM_015599.3(PGM3):c.591+8G>A
NM_015599.3(PGM3):c.592-11_592-10del
NM_015599.3(PGM3):c.592-4G>A
NM_015599.3(PGM3):c.592-5T>C
NM_015599.3(PGM3):c.594T>G (p.Ala198=)
NM_015599.3(PGM3):c.616A>C (p.Arg206=)
NM_015599.3(PGM3):c.63T>G (p.Leu21=)
NM_015599.3(PGM3):c.654C>T (p.Ala218=)
NM_015599.3(PGM3):c.660G>A (p.Lys220=)
NM_015599.3(PGM3):c.66A>G (p.Gln22=)
NM_015599.3(PGM3):c.681C>T (p.Tyr227=) rs1165598375
NM_015599.3(PGM3):c.696G>A (p.Leu232=)
NM_015599.3(PGM3):c.708G>A (p.Leu236=)
NM_015599.3(PGM3):c.720G>A (p.Gly240=)
NM_015599.3(PGM3):c.750A>C (p.Gly250=)
NM_015599.3(PGM3):c.750A>T (p.Gly250=)
NM_015599.3(PGM3):c.756C>T (p.Asp252=)
NM_015599.3(PGM3):c.780T>A (p.Pro260=)
NM_015599.3(PGM3):c.783A>G (p.Pro261=)
NM_015599.3(PGM3):c.787+12T>C
NM_015599.3(PGM3):c.787+15C>G
NM_015599.3(PGM3):c.787+17C>T
NM_015599.3(PGM3):c.787+20C>T rs955457725
NM_015599.3(PGM3):c.787+9T>C
NM_015599.3(PGM3):c.788-16T>C
NM_015599.3(PGM3):c.788-4C>T
NM_015599.3(PGM3):c.807T>C (p.Asn269=)
NM_015599.3(PGM3):c.822T>G (p.Ser274=)
NM_015599.3(PGM3):c.828T>C (p.Asp276=)
NM_015599.3(PGM3):c.831A>C (p.Gly277=)
NM_015599.3(PGM3):c.849T>C (p.Val283=)
NM_015599.3(PGM3):c.858C>T (p.Tyr286=)
NM_015599.3(PGM3):c.882T>C (p.His294=)
NM_015599.3(PGM3):c.90G>A (p.Thr30=)
NM_015599.3(PGM3):c.918C>T (p.Ser306=) rs2128494940
NM_015599.3(PGM3):c.927T>G (p.Leu309=)
NM_015599.3(PGM3):c.930A>G (p.Lys310=)
NM_015599.3(PGM3):c.936C>T (p.Leu312=)
NM_015599.3(PGM3):c.939G>T (p.Leu313=)
NM_015599.3(PGM3):c.945+10G>A rs1788040631
NM_015599.3(PGM3):c.945+12G>A
NM_015599.3(PGM3):c.945+13G>A
NM_015599.3(PGM3):c.945+13G>T
NM_015599.3(PGM3):c.945+8G>C
NM_015599.3(PGM3):c.945+9G>C rs2128494907
NM_015599.3(PGM3):c.946-14T>C
NM_015599.3(PGM3):c.946-20G>C
NM_015599.3(PGM3):c.946-23_946-19del
NM_015599.3(PGM3):c.946-4C>T rs2128493797
NM_015599.3(PGM3):c.946-6G>T
NM_015599.3(PGM3):c.946-9T>C rs2128493807
NM_015599.3(PGM3):c.975A>G (p.Val325=) rs1462718508
NM_015599.3(PGM3):c.975A>T (p.Val325=)
NM_015599.3(PGM3):c.990A>G (p.Ala330=) rs2128493751
NM_015599.3(PGM3):c.999T>C (p.Ser333=)
NM_015599.3(PGM3):c.99A>G (p.Glu33=)
NM_015599.3(PGM3):c.9A>G (p.Leu3=)

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