ClinVar Miner

List of variants in gene DOP1A, PGM3 studied for Immunodeficiency 23

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Total variants: 67
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HGVS dbSNP gnomAD frequency
NM_015599.3(PGM3):c.1396G>A (p.Asp466Asn) rs473267 0.35079
NM_015599.3(PGM3):c.1464C>T (p.Tyr488=) rs34873318 0.01824
NM_015599.3(PGM3):c.1539+19A>G rs115918938 0.00694
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.1466A>G (p.Lys489Arg) rs369328277 0.00007
NM_015599.3(PGM3):c.1395C>T (p.Thr465=) rs540471794 0.00004
NM_015599.3(PGM3):c.1554C>A (p.His518Gln) rs375523747 0.00004
NM_015599.3(PGM3):c.1467G>A (p.Lys489=) rs200072483 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.1459A>G (p.Lys487Glu) rs199998117 0.00001
NM_015599.3(PGM3):c.1474C>T (p.Arg492Ter) rs144104577 0.00001
NM_015599.3(PGM3):c.1487G>A (p.Arg496Gln) rs1447955006 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.1370C>T (p.Ala457Val) rs2128479369
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.1381G>C (p.Val461Leu)
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.1415_1442dup (p.Asn482fs)
NM_015599.3(PGM3):c.1422C>T (p.Pro474=) rs2128479132
NM_015599.3(PGM3):c.1432C>T (p.Gln478Ter)
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.1448A>G (p.Asp483Gly) rs2128479046
NM_015599.3(PGM3):c.1450C>T (p.Leu484=)
NM_015599.3(PGM3):c.1461G>C (p.Lys487Asn) rs2128479028
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.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.1506T>C (p.Asp502=)
NM_015599.3(PGM3):c.1509C>T (p.Val503=)
NM_015599.3(PGM3):c.1512C>T (p.Val504=)
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.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.1539+4A>G
NM_015599.3(PGM3):c.1539+6C>G rs1002434518
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.1585C>T (p.Gln529Ter)
NM_015599.3(PGM3):c.1586A>C (p.Gln529Pro) rs1786554799
NM_015599.3(PGM3):c.1587G>A (p.Gln529=)
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.1614C>G (p.Pro538=)
NM_015599.3(PGM3):c.1617A>G (p.Gln539=)
NM_015599.3(PGM3):c.1626C>A (p.Phe542Leu)

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