ClinVar Miner

List of variants reported as pathogenic for immunodeficiency 23

Included ClinVar conditions (1):
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ClinVar version:
Total variants: 52
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HGVS dbSNP gnomAD frequency
NM_015599.3(PGM3):c.-2-194C>T rs753019951 0.00003
NM_015599.3(PGM3):c.1474C>T (p.Arg492Ter) rs144104577 0.00001
NM_015599.3(PGM3):c.520C>T (p.Arg174Ter) rs762678772 0.00001
NM_015599.3(PGM3):c.965T>C (p.Ile322Thr) rs745508510 0.00001
NC_000006.11:g.(?_83878953)_(83900987_?)del
NM_015599.3(PGM3):c.-2-185C>T rs565900346
NM_015599.3(PGM3):c.-2-195C>G
NM_015599.3(PGM3):c.-2-218G>T
NM_015599.3(PGM3):c.-2-238del rs2128509412
NM_015599.3(PGM3):c.-2-242_-2-241del
NM_015599.3(PGM3):c.1020_1022del (p.Glu340_Val341delinsAsp) rs587777416
NM_015599.3(PGM3):c.1104T>G (p.Tyr368Ter)
NM_015599.3(PGM3):c.1153_1157del (p.Met385fs)
NM_015599.3(PGM3):c.1165_1166del (p.Gln389fs)
NM_015599.3(PGM3):c.1197_1201del (p.Arg399fs)
NM_015599.3(PGM3):c.1198_1202dup (p.Ala402fs)
NM_015599.3(PGM3):c.1255_1277del (p.Asp418_Ala419insTer)
NM_015599.3(PGM3):c.1330_1333dup (p.Thr445fs) rs777118863
NM_015599.3(PGM3):c.1352A>G (p.Gln451Arg) rs587777565
NM_015599.3(PGM3):c.1354_1358del (p.Leu452fs) rs587777414
NM_015599.3(PGM3):c.1359dup (p.Val454fs)
NM_015599.3(PGM3):c.1415_1442dup (p.Asn482fs)
NM_015599.3(PGM3):c.1432C>T (p.Gln478Ter)
NM_015599.3(PGM3):c.1500AGA[1] (p.Glu501del)
NM_015599.3(PGM3):c.1501G>C (p.Glu501Gln) rs587777413
NM_015599.3(PGM3):c.1504G>T (p.Asp502Tyr) rs267608261
NM_015599.3(PGM3):c.152_153del (p.Lys51fs)
NM_015599.3(PGM3):c.162del (p.Lys54fs)
NM_015599.3(PGM3):c.162dup (p.Ser55fs)
NM_015599.3(PGM3):c.226del (p.Val76fs)
NM_015599.3(PGM3):c.248T>C (p.Leu83Ser) rs267608260
NM_015599.3(PGM3):c.310A>T (p.Arg104Ter)
NM_015599.3(PGM3):c.322_323insGATTG (p.Asp108fs)
NM_015599.3(PGM3):c.369dup (p.Val124fs) rs1788795866
NM_015599.3(PGM3):c.378dup (p.Arg127Ter) rs2128506370
NM_015599.3(PGM3):c.379del (p.Arg127fs)
NM_015599.3(PGM3):c.398_413del (p.Ser133fs) rs1404084330
NM_015599.3(PGM3):c.421dup (p.Ile141fs) rs2128504331
NM_015599.3(PGM3):c.43_46dup (p.Pro16fs)
NM_015599.3(PGM3):c.563_564del (p.Leu187_Ser188insTer)
NM_015599.3(PGM3):c.620C>G (p.Ser207Ter)
NM_015599.3(PGM3):c.64C>T (p.Gln22Ter)
NM_015599.3(PGM3):c.715G>C (p.Asp239His) rs869312886
NM_015599.3(PGM3):c.737A>G (p.Asn246Ser) rs587777562
NM_015599.3(PGM3):c.737dup (p.Asn246fs) rs587777564
NM_015599.3(PGM3):c.767_777del (p.Ser256fs) rs2128497316
NM_015599.3(PGM3):c.784C>T (p.Gln262Ter) rs1293351659
NM_015599.3(PGM3):c.816C>A (p.Cys272Ter)
NM_015599.3(PGM3):c.85C>T (p.Arg29Ter)
NM_015599.3(PGM3):c.891T>G (p.Asp297Glu) rs587777415
NM_015599.3(PGM3):c.908del (p.Thr303fs)
Single allele

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