ClinVar Miner

List of variants in gene combination DOP1A, PGM3 reported as likely benign for immune system disorder

Included ClinVar conditions (908):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 32
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HGVS dbSNP gnomAD frequency
NM_015599.3(PGM3):c.1395C>T (p.Thr465=) rs540471794 0.00004
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.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.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.1614C>G (p.Pro538=)
NM_015599.3(PGM3):c.1617A>G (p.Gln539=)

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